insulin-like growth factor 2 (somatomedin A) (IGF2) - coding DNA reference sequence

(used for variant description)

(last modified August 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000612.4 in the IGF2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008849.1, covering IGF2 transcript NM_000612.4.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.15661
                             cgcctgtccccctcccgaggcccgggctcgcg       c.-721

 .         .         .         .         .         .                g.15721
 acggcagagggctccgtcggcccaaaccgagctgggcgcccgcggtccgggtgcagcctc       c.-661

 .         .         .         .         .         .                g.15781
 cactccgccccccagtcaccgcctcccccggcccctcgacgtggcgcccttccctccgct       c.-601

 .         .         .         .         .         .                g.15841
 tctctgtgctccccgcgcccctcttggcgtctggccccggcccccgctctttctcccgca       c.-541

 .         .         .         .         .         .                g.15901
 accttcccttcgctccctcccgtcccccccagctcctagcctccgactccctccccccct       c.-481

 .         .         .         .         .         .                g.15961
 cacgcccgccctctcgccttcgccgaaccaaagtggattaattacacgctttctgtttct       c.-421

 .         .         .         .         .         .                g.16021
 ctccgtgctgttctctcccgctgtgcgcctgcccgcctctcgctgtcctctctccccctc       c.-361

 .         .         .         .         .         .                g.16081
 gccctctcttcggcccccccctttcacgttcactctgtctctcccactatctctgccccc       c.-301

 .         .         .         .         .         .                g.16141
 ctctatccttgatacaacagctgacctcatttcccgataccttttcccccccgaaaagta       c.-241

 .         .         .         .         .         .                g.16201
 caacatctggcccgccccagcccgaagacagcccgtcctccctggacaatcagacgaatt       c.-181

 .         .         .         .         .         .                g.16261
 ctccccccccccccaaaaaaaagccatccccccgctctgccccgtcgcacattcggcccc       c.-121

 .         .         .         .         .         .                g.16321
 cgcgactcggccagagcggcgctggcagaggagtgtccggcaggagggccaacgcccgct       c.-61

 .         .         .         .         .         .    | 02        g.19080
 gttcggtttgcgacacgcagcagggaggtgggcggcagcgtcgccggcttccag | acacca    c.-1

          .         .         .         .         .         .       g.19140
 ATGGGAATCCCAATGGGGAAGTCGATGCTGGTGCTTCTCACCTTCTTGGCCTTCGCCTCG       c.60
 M  G  I  P  M  G  K  S  M  L  V  L  L  T  F  L  A  F  A  S         p.20

          .         .         .         .         .         .       g.19200
 TGCTGCATTGCTGCTTACCGCCCCAGTGAGACCCTGTGCGGCGGGGAGCTGGTGGACACC       c.120
 C  C  I  A  A  Y  R  P  S  E  T  L  C  G  G  E  L  V  D  T         p.40

          .         .         .        | 03.         .         .    g.20961
 CTCCAGTTCGTCTGTGGGGACCGCGGCTTCTACTTCA | GCAGGCCCGCAAGCCGTGTGAGC    c.180
 L  Q  F  V  C  G  D  R  G  F  Y  F  S |   R  P  A  S  R  V  S      p.60

          .         .         .         .         .         .       g.21021
 CGTCGCAGCCGTGGCATCGTTGAGGAGTGCTGTTTCCGCAGCTGTGACCTGGCCCTCCTG       c.240
 R  R  S  R  G  I  V  E  E  C  C  F  R  S  C  D  L  A  L  L         p.80

          .         .         .         .         .         .       g.21081
 GAGACGTACTGTGCTACCCCCGCCAAGTCCGAGAGGGACGTGTCGACCCCTCCGACCGTG       c.300
 E  T  Y  C  A  T  P  A  K  S  E  R  D  V  S  T  P  P  T  V         p.100

        | 04 .         .         .         .         .         .    g.21434
 CTTCCG | GACAACTTCCCCAGATACCCCGTGGGCAAGTTCTTCCAATATGACACCTGGAAG    c.360
 L  P   | D  N  F  P  R  Y  P  V  G  K  F  F  Q  Y  D  T  W  K      p.120

          .         .         .         .         .         .       g.21494
 CAGTCCACCCAGCGCCTGCGCAGGGGCCTGCCTGCCCTCCTGCGTGCCCGCCGGGGTCAC       c.420
 Q  S  T  Q  R  L  R  R  G  L  P  A  L  L  R  A  R  R  G  H         p.140

          .         .         .         .         .         .       g.21554
 GTGCTCGCCAAGGAGCTCGAGGCGTTCAGGGAGGCCAAACGTCACCGTCCCCTGATTGCT       c.480
 V  L  A  K  E  L  E  A  F  R  E  A  K  R  H  R  P  L  I  A         p.160

          .         .         .         .         .         .       g.21614
 CTACCCACCCAAGACCCCGCCCACGGGGGCGCCCCCCCAGAGATGGCCAGCAATCGGAAG       c.540
 L  P  T  Q  D  P  A  H  G  G  A  P  P  E  M  A  S  N  R  K         p.180

                                                                    g.21617
 TGA                                                                c.543
 X                                                                  p.180

          .         .         .         .         .         .       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 (somatomedin A) 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 variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.