growth differentiation factor 2 (GDF2) - coding DNA reference sequence

(used for variant description)

(last modified November 17, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_016204.1 in the GDF2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_033916.1, covering GDF2 transcript NM_016204.1.

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

 (upstream sequence)
                     .         .         .         .                g.5040
                     tccagcccggcagcgggtgagagtgggtgctggccaggac       c.-121

 .         .         .         .         .         .                g.5100
 ggttccttcagagcaaacagcagggagatgccggcccgctccttcccagctcctccccgt       c.-61

 .         .         .         .         .         .                g.5160
 gcccgctaacacagcacggccgcctgcagtctcctctctgggtgattgcgcgggcctaag       c.-1

          .         .         .         .         .         .       g.5220
 ATGTGTCCTGGGGCACTGTGGGTGGCCCTGCCCCTGCTGTCCCTGCTGGCTGGCTCCCTA       c.60
 M  C  P  G  A  L  W  V  A  L  P  L  L  S  L  L  A  G  S  L         p.20

          .         .         .         .         .         .       g.5280
 CAGGGGAAGCCACTGCAGAGCTGGGGACGAGGGTCTGCTGGGGGAAACGCCCACAGCCCA       c.120
 Q  G  K  P  L  Q  S  W  G  R  G  S  A  G  G  N  A  H  S  P         p.40

          .         .         .         .         .         .       g.5340
 CTGGGGGTGCCTGGAGGTGGGCTGCCTGAGCACACCTTCAACCTGAAGATGTTTCTGGAG       c.180
 L  G  V  P  G  G  G  L  P  E  H  T  F  N  L  K  M  F  L  E         p.60

          .         .         .         .         .         .       g.5400
 AACGTGAAGGTGGATTTCCTGCGCAGCCTTAACCTGAGTGGGGTCCCTTCGCAGGACAAA       c.240
 N  V  K  V  D  F  L  R  S  L  N  L  S  G  V  P  S  Q  D  K         p.80

          .         .         .         .         .         .       g.5460
 ACCAGGGTGGAGCCGCCGCAGTACATGATTGACCTGTACAACAGGTACACGTCCGATAAG       c.300
 T  R  V  E  P  P  Q  Y  M  I  D  L  Y  N  R  Y  T  S  D  K         p.100

          .         .         .         .       | 02 .         .    g.7346
 TCGACTACGCCAGCGTCCAACATTGTGCGGAGCTTCAGCATGGAAG | ATGCCATCTCCATA    c.360
 S  T  T  P  A  S  N  I  V  R  S  F  S  M  E  D |   A  I  S  I      p.120

          .         .         .         .         .         .       g.7406
 ACTGCCACAGAGGACTTCCCCTTCCAGAAGCACATCTTGCTCTTCAACATCTCCATTCCT       c.420
 T  A  T  E  D  F  P  F  Q  K  H  I  L  L  F  N  I  S  I  P         p.140

          .         .         .         .         .         .       g.7466
 AGGCATGAGCAGATCACCAGAGCTGAGCTCCGACTCTATGTCTCCTGTCAAAATCACGTG       c.480
 R  H  E  Q  I  T  R  A  E  L  R  L  Y  V  S  C  Q  N  H  V         p.160

          .         .         .         .         .         .       g.7526
 GACCCCTCTCATGACCTGAAAGGAAGCGTGGTCATTTATGATGTTCTGGATGGAACAGAT       c.540
 D  P  S  H  D  L  K  G  S  V  V  I  Y  D  V  L  D  G  T  D         p.180

          .         .         .         .         .         .       g.7586
 GCCTGGGATAGTGCTACAGAGACCAAGACCTTCCTGGTGTCCCAGGACATTCAGGATGAG       c.600
 A  W  D  S  A  T  E  T  K  T  F  L  V  S  Q  D  I  Q  D  E         p.200

          .         .         .         .         .         .       g.7646
 GGCTGGGAGACCTTGGAAGTGTCCAGCGCCGTGAAGCGCTGGGTCCGGTCCGACTCCACC       c.660
 G  W  E  T  L  E  V  S  S  A  V  K  R  W  V  R  S  D  S  T         p.220

          .         .         .         .         .         .       g.7706
 AAGAGCAAAAATAAGCTGGAAGTGACTGTGGAGAGCCACAGGAAGGGCTGCGACACGCTG       c.720
 K  S  K  N  K  L  E  V  T  V  E  S  H  R  K  G  C  D  T  L         p.240

          .         .         .         .         .         .       g.7766
 GACATCAGTGTCCCCCCAGGTTCCAGAAACCTGCCCTTCTTTGTTGTCTTCTCCAATGAC       c.780
 D  I  S  V  P  P  G  S  R  N  L  P  F  F  V  V  F  S  N  D         p.260

          .         .         .         .         .         .       g.7826
 CACAGCAGTGGGACCAAGGAGACCAGGCTGGAGCTGAGGGAGATGATCAGCCATGAACAA       c.840
 H  S  S  G  T  K  E  T  R  L  E  L  R  E  M  I  S  H  E  Q         p.280

          .         .         .         .         .         .       g.7886
 GAGAGCGTGCTCAAGAAGCTGTCCAAGGACGGCTCCACAGAGGCAGGTGAGAGCAGTCAC       c.900
 E  S  V  L  K  K  L  S  K  D  G  S  T  E  A  G  E  S  S  H         p.300

          .         .         .         .         .         .       g.7946
 GAGGAGGACACGGATGGCCACGTGGCTGCGGGGTCGACTTTAGCCAGGCGGAAAAGGAGC       c.960
 E  E  D  T  D  G  H  V  A  A  G  S  T  L  A  R  R  K  R  S         p.320

          .         .         .         .         .         .       g.8006
 GCCGGGGCTGGCAGCCACTGTCAAAAGACCTCCCTGCGGGTAAACTTCGAGGACATCGGC       c.1020
 A  G  A  G  S  H  C  Q  K  T  S  L  R  V  N  F  E  D  I  G         p.340

          .         .         .         .         .         .       g.8066
 TGGGACAGCTGGATCATTGCACCCAAGGAGTATGAAGCCTACGAGTGTAAGGGCGGCTGC       c.1080
 W  D  S  W  I  I  A  P  K  E  Y  E  A  Y  E  C  K  G  G  C         p.360

          .         .         .         .         .         .       g.8126
 TTCTTCCCCTTGGCTGACGATGTGACGCCGACGAAACACGCTATCGTGCAGACCCTGGTG       c.1140
 F  F  P  L  A  D  D  V  T  P  T  K  H  A  I  V  Q  T  L  V         p.380

          .         .         .         .         .         .       g.8186
 CATCTCAAGTTCCCCACAAAGGTGGGCAAGGCCTGCTGTGTGCCCACCAAACTGAGCCCC       c.1200
 H  L  K  F  P  T  K  V  G  K  A  C  C  V  P  T  K  L  S  P         p.400

          .         .         .         .         .         .       g.8246
 ATCTCCGTCCTCTACAAGGATGACATGGGGGTGCCCACCCTCAAGTACCATTACGAGGGC       c.1260
 I  S  V  L  Y  K  D  D  M  G  V  P  T  L  K  Y  H  Y  E  G         p.420

          .         .         .                                     g.8276
 ATGAGCGTGGCAGAGTGTGGGTGCAGGTAG                                     c.1290
 M  S  V  A  E  C  G  C  R  X                                       p.429

          .         .         .         .         .         .       g.8336
 tatctgcctgcggggctggggaggcaggccaaaggggctccacatgagaggtcctgcatg       c.*60

          .         .         .         .         .         .       g.8396
 cccctgggcacaacaaggactgattcaatctgcatgccagcctggaggaggaaagggagc       c.*120

          .         .         .         .         .         .       g.8456
 ctgctctccctccccacaccccacccaaagcatacaccgctgagctcaactgccagggaa       c.*180

          .         .         .         .         .         .       g.8516
 ggctaaggaaatggggatttgagcacaacaggaaagcctgggagggttgttgggatgcaa       c.*240

          .         .         .         .         .         .       g.8576
 ggaggtgatgaaaaggagacagggggaaaaataatccatagtcagcagaaaacaacagca       c.*300

          .         .         .         .         .         .       g.8636
 gtgagccagaggagcacaggcgggcaggtcactgcagagactgatggaagttagagaggt       c.*360

          .         .         .         .         .         .       g.8696
 ggaggaggccagctcgctccaaaacccttggggagtagagggaaggagcaggccgcgtgt       c.*420

          .         .         .         .         .         .       g.8756
 cacacccatcattgtatgttatttcccacaacccagttggaggggcatggcttccaattt       c.*480

                                                                    g.8762
 agagac                                                             c.*486

 (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 Growth differentiation 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 variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.