Insulin-like Growth Factor 2 (IGF2) - coding DNA reference sequence

(used for mutation description)

(last modified October 31, 2009)

This file was created to facilitate the description of sequence variants in the IGF2 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008849.1. The IGF2 gene produces at least to alternative transcripts. Transcript variant 1 (NM_000612.4) starts in intron 2 while transcript variant 2 (NM_001007139.4) does not use exons 1 and 2 but 2 alternative exons, upstream of exon 1, instead. In both transcripts the translation start site has been suggested to be at p.Met57 (in exon 3). NOTE: IGF2 is an imprinted gene and expressed from the paternally inherited allele only.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                                                   .                g.13510
                                           ggccgcgcgccctcagga       c.-241

 .         .         .         .         .         .                g.13570
 cgtggacagggagggcttccccgtgtccaggaaagcgaccgggcattgcccccagtctcc       c.-181

 .         .         .         .         .         .                g.13630
 cccaaatttgggcattgtccccgggtcttccaacggactgggcgttgctcccggacactg       c.-121

 .         .         .         .         .         .                g.13690
 aggactggccccggggtctcgctcaccttcagcagcgtccaccgcctgccacagagcgtt       c.-61

 .         .         .         .         .         .       | 02     g.14307
 cgatcgctcgctgcctgagctcctggtgcgcccgcggacgcagcctccagcttcgcg | gag    c.-1

          .         .         .         .         .         .       g.14367
 ATGGTTTCCCCAGACCCCCAAATTATCGTGGTGGCCCCCGAGACCGAACTCGCGTCTATG       c.60
 M  V  S  P  D  P  Q  I  I  V  V  A  P  E  T  E  L  A  S  M         p.20

          .         .         .         .         .         .       g.14427
 CAAGTCCAACGCACTGAGGACGGGGTAACCATTATCCAGATATTTTGGGTGGGCCGCAAA       c.120
 Q  V  Q  R  T  E  D  G  V  T  I  I  Q  I  F  W  V  G  R  K         p.40

          .         .         .         .   | 03     .         .    g.19092
 GGCGAGCTACTTAGACGCACCCCGGTGAGCTCGGCCATGCAG | ACACCAATGGGAATCCCA    c.180
 G  E  L  L  R  R  T  P  V  S  S  A  M  Q   | T  P  M  G  I  P      p.60
  translation start site transcript variants 1 / 2  ^

          .         .         .         .         .         .       g.19152
 ATGGGGAAGTCGATGCTGGTGCTTCTCACCTTCTTGGCCTTCGCCTCGTGCTGCATTGCT       c.240
 M  G  K  S  M  L  V  L  L  T  F  L  A  F  A  S  C  C  I  A         p.80

          .         .         .         .         .         .       g.19212
 GCTTACCGCCCCAGTGAGACCCTGTGCGGCGGGGAGCTGGTGGACACCCTCCAGTTCGTC       c.300
 A  Y  R  P  S  E  T  L  C  G  G  E  L  V  D  T  L  Q  F  V         p.100

          .         .      | 04  .         .         .         .    g.20973
 TGTGGGGACCGCGGCTTCTACTTCA | GCAGGCCCGCAAGCCGTGTGAGCCGTCGCAGCCGT    c.360
 C  G  D  R  G  F  Y  F  S |   R  P  A  S  R  V  S  R  R  S  R      p.120

          .         .         .         .         .         .       g.21033
 GGCATCGTTGAGGAGTGCTGTTTCCGCAGCTGTGACCTGGCCCTCCTGGAGACGTACTGT       c.420
 G  I  V  E  E  C  C  F  R  S  C  D  L  A  L  L  E  T  Y  C         p.140

          .         .         .         .         .     | 05   .    g.21386
 GCTACCCCCGCCAAGTCCGAGAGGGACGTGTCGACCCCTCCGACCGTGCTTCCG | GACAAC    c.480
 A  T  P  A  K  S  E  R  D  V  S  T  P  P  T  V  L  P   | D  N      p.160

          .         .         .         .         .         .       g.21446
 TTCCCCAGATACCCCGTGGGCAAGTTCTTCCAATATGACACCTGGAAGCAGTCCACCCAG       c.540
 F  P  R  Y  P  V  G  K  F  F  Q  Y  D  T  W  K  Q  S  T  Q         p.180

          .         .         .         .         .         .       g.21506
 CGCCTGCGCAGGGGCCTGCCTGCCCTCCTGCGTGCCCGCCGGGGTCACGTGCTCGCCAAG       c.600
 R  L  R  R  G  L  P  A  L  L  R  A  R  R  G  H  V  L  A  K         p.200

          .         .         .         .         .         .       g.21566
 GAGCTCGAGGCGTTCAGGGAGGCCAAACGTCACCGTCCCCTGATTGCTCTACCCACCCAA       c.660
 E  L  E  A  F  R  E  A  K  R  H  R  P  L  I  A  L  P  T  Q         p.220

          .         .         .         .         .                 g.21617
 GACCCCGCCCACGGGGGCGCCCCCCCAGAGATGGCCAGCAATCGGAAGTGA                c.711
 D  P  A  H  G  G  A  P  P  E  M  A  S  N  R  K  X                  p.236

          .         .         .         .         .         .       g.21677
 gcaaaactgccgcaagtctgcagcccggcgccaccatcctgcagcctcctcctgaccacg       c.*60

          .         .         .         .         .         .       g.21737
 gacgtttccatcaggttccatcccgaaaatctctcggttccacgtccccctggggcttct       c.*120

          .         .         .         .         .         .       g.21797
 cctgacccagtccccgtgccccgcctccccgaaacaggctactctcctcggccccctcca       c.*180

          .         .         .         .         .         .       g.21857
 tcgggctgaggaagcacagcagcatcttcaaacatgtacaaaatcgattggctttaaaca       c.*240

          .         .         .         .         .         .       g.21917
 cccttcacataccctccccccaaattatccccaattatccccacacataaaaaatcaaaa       c.*300

          .         .         .         .         .         .       g.21977
 cattaaactaacccccttcccccccccccacaacaaccctcttaaaactaattggctttt       c.*360

          .         .         .         .         .         .       g.22037
 tagaaacaccccacaaaagctcagaaattggctttaaaaaaaacaaccaccaaaaaaaat       c.*420

          .         .         .         .         .         .       g.22097
 caattggctaaaaaaaaaaagtattaaaaacgaattggctgagaaacaattggcaaaata       c.*480

          .         .         .         .         .         .       g.22157
 aaggaatttggcactccccacccccctctttctcttctcccttggactttgagtcaaatt       c.*540

          .         .         .         .         .         .       g.22217
 ggcctggacttgagtccctgaaccagcaaagagaaaagaaggaccccagaaatcacaggt       c.*600

          .         .         .         .         .         .       g.22277
 gggcacgtcgctgctaccgccatctcccttctcacgggaattttcagggtaaactggcca       c.*660

          .         .         .         .         .         .       g.22337
 tccgaaaatagcaacaacccagactggctcctcactcccttttccatcactaaaaatcac       c.*720

          .         .         .         .         .         .       g.22397
 agagcagtcagagggacccagtaagaccaaaggaggggaggacagagcatgaaaaccaaa       c.*780

          .         .         .         .         .         .       g.22457
 atccatgcaaatgaaatgtaattggcacgaccctcacccccaaatcttacatctcaattc       c.*840

          .         .         .         .         .         .       g.22517
 ccatcctaaaaagcactcatactttatgcatccccgcagctacacacacacaacacacag       c.*900

          .         .         .         .         .         .       g.22577
 cacacgcatgaacacagcacacacacgagcacagcacacacacaaacgcacagcacacac       c.*960

          .         .         .         .         .         .       g.22637
 agcacacagatgagcacacagcacacacacaaacgcacagcacacacacgcacacacatg       c.*1020

          .         .         .         .         .         .       g.22697
 cacacacagcacacaaacgcacggcacacacacgcacacacatgcacacacagcacacac       c.*1080

          .         .         .         .         .         .       g.22757
 acaaacgcacagcacacacaaacgcacagcacacacgcacacacagcacacacacgagca       c.*1140

          .         .         .         .         .         .       g.22817
 cacagcacacaaacgcacagcacacgcacacacatgcacacacagcacacacactagcac       c.*1200

          .         .         .         .         .         .       g.22877
 acagcacacacacaaagacacagcacacacatgcacacacagcacacacacgcgaacaca       c.*1260

          .         .         .         .         .         .       g.22937
 gcacacacgaacacagcacacacagcacacacacaaacacagcacacacatgcacacagc       c.*1320

          .         .         .         .         .         .       g.22997
 acacgcacacacagcacacacatgaacacagcacacagcacacacatgcacacacagcac       c.*1380

          .         .         .         .         .         .       g.23057
 acacgcatgcacagcacacatgaacacagcacacacacaaacacacagcacacacatgca       c.*1440

          .         .         .         .         .         .       g.23117
 cacacagcacacacactcatgcgcagcacatacatgaacacagctcacagcacacaaaca       c.*1500

          .         .         .         .         .         .       g.23177
 cgcagcacacacgttgcacacgcaagcacccacctgcacacacacatgcgcacacacacg       c.*1560

          .         .         .         .         .         .       g.23237
 cacacccccacaaaattggatgaaaacaataagcatatctaagcaactacgatatctgta       c.*1620

          .         .         .         .         .         .       g.23297
 tggatcaggccaaagtcccgctaagattctccaatgttttcatggtctgagccccgctcc       c.*1680

          .         .         .         .         .         .       g.23357
 tgttcccatctccactgcccctcggccctgtctgtgccctgcctctcagaggagggggct       c.*1740

          .         .         .         .         .         .       g.23417
 cagatggtgcggcctgagtgtgcggccggcggcatttgggatacacccgtagggtgggcg       c.*1800

          .         .         .         .         .         .       g.23477
 gggtgtgtcccaggcctaattccatctttccaccatgacagagatgcccttgtgaggctg       c.*1860

          .         .         .         .         .         .       g.23537
 gcctccttggcgcctgtccccacggcccccgcagcgtgagccacgatgctccccataccc       c.*1920

          .         .         .         .         .         .       g.23597
 cacccattcccgatacaccttacttactgtgtgttggcccagccagagtgaggaaggagt       c.*1980

          .         .         .         .         .         .       g.23657
 ttggccacattggagatggcggtagctgagcagacatgcccccacgagtagcctgactcc       c.*2040

          .         .         .         .         .         .       g.23717
 ctggtgtgctcctggaaggaagatcttggggacccccccaccggagcacacctagggatc       c.*2100

          .         .         .         .         .         .       g.23777
 atctttgcccgtctcctggggaccccccaagaaatgtggagtcctcgggggccgtgcact       c.*2160

          .         .         .         .         .         .       g.23837
 gatgcggggagtgtgggaagtctggcggttggaggggtgggtggggggcagtgggggctg       c.*2220

          .         .         .         .         .         .       g.23897
 ggcggggggagttctggggtaggaagtggtcccgggagattttggatggaaaagtcagga       c.*2280

          .         .         .         .         .         .       g.23957
 ggattgacagcagacttgcagaattacatagagaaattaggaacccccaaatttcatgtc       c.*2340

          .         .         .         .         .         .       g.24017
 aattgatctattccccctctttgtttcttggggcatttttccttttttttttttttttgt       c.*2400

          .         .         .         .         .         .       g.24077
 tttttttttacccctccttagctttatgcgctcagaaaccaaattaaaccccccccccat       c.*2460

          .         .         .         .         .         .       g.24137
 gtaacaggggggcagtgacaaaagcaagaacgcacgaagccagcctggagaccaccacgt       c.*2520

          .         .         .         .         .         .       g.24197
 cctgccccccgccatttatcgccctgattggattttgtttttcatctgtccctgttgctt       c.*2580

          .         .         .         .         .         .       g.24257
 gggttgagttgagggtggagcctcctggggggcactggccactgagcccccttggagaag       c.*2640

          .         .         .         .         .         .       g.24317
 tcagaggggagtggagaaggccactgtccggcctggcttctggggacagtggctggtccc       c.*2700

          .         .         .         .         .         .       g.24377
 cagaagtcctgagggcggaggggggggttgggcagggtctcctcaggtgtcaggagggtg       c.*2760

          .         .         .         .         .         .       g.24437
 ctcggaggccacaggagggggctcctggctggcctgaggctggccggaggggaaggggct       c.*2820

          .         .         .         .         .         .       g.24497
 agcaggtgtgtaaacagagggttccatcaggctggggcagggtggccgccttccgcacac       c.*2880

          .         .         .         .         .         .       g.24557
 ttgaggaaccctcccctctccctcggtgacatcttgcccgcccctcagcaccctgccttg       c.*2940

          .         .         .         .         .         .       g.24617
 tctccaggaggtccgaagctctgtgggacctcttgggggcaaggtggggtgaggccgggg       c.*3000

          .         .         .         .         .         .       g.24677
 agtagggaggtcaggcgggtctgagcccacagagcaggagagctgccaggtctgcccatc       c.*3060

          .         .         .         .         .         .       g.24737
 gaccaggttgcttgggccccggagcccacgggtctggtgatgccatagcagccaccaccg       c.*3120

          .         .         .         .         .         .       g.24797
 cggcgcctagggctgcggcagggactcggcctctgggaggtttacctcgcccccacttgt       c.*3180

          .         .         .         .         .         .       g.24857
 gcccccagctcagcccccctgcacgcagcccgactagcagtctagaggcctgaggcttct       c.*3240

          .         .         .         .         .         .       g.24917
 gggtcctggtgacggggctggcatgaccccgggggtcgtccatgccagtccgcctcagtc       c.*3300

          .         .         .         .         .         .       g.24977
 gcagagggtccctcggcaagcgccctgtgagtgggccattcggaacattggacagaagcc       c.*3360

          .         .         .         .         .         .       g.25037
 caaagagccaaattgtcacaattgtggaacccacattggcctgagatccaaaacgcttcg       c.*3420

          .         .         .         .         .         .       g.25097
 aggcaccccaaattacctgcccattcgtcaggacacccacccacccagtgttatattctg       c.*3480

          .         .         .         .         .         .       g.25157
 cctcgccggagtgggtgttcccgggggcacttgccgaccagccccttgcgtccccaggtt       c.*3540

          .         .         .         .         .         .       g.25217
 tgcagctctcccctgggccactaaccatcctggcccgggctgcctgtctgacctccgtgc       c.*3600

          .         .         .         .         .         .       g.25277
 ctagtcgtggctctccatcttgtctcctccccgtgtccccaatgtcttcagtggggggcc       c.*3660

          .         .         .         .         .         .       g.25337
 ccctcttgggtcccctcctctgccatcacctgaagacccccacgccaaacactgaatgtc       c.*3720

          .         .         .         .         .         .       g.25397
 acctgtgcctgccgcctcggtccaccttgcggcccgtgtttgactcaactcaactccttt       c.*3780

          .         .         .         .         .         .       g.25457
 aacgctaatatttccggcaaaatcccatgcttgggttttgtctttaaccttgtaacgctt       c.*3840

          .         .         .                                     g.25487
 gcaatcccaataaagcattaaaagtcatga                                     c.*3870

 (downstream sequence)

Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10^th nucleotide is indicated by a "." above the sequence. The Insulin-like Growth Factor 2 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.