DMRT-like family A2 (DMRTA2) - coding DNA reference sequence

(used for variant description)

(last modified October 13, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_032110.2 in the DMRTA2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering DMRTA2 transcript NM_032110.2.

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

 (upstream sequence)
                     .         .         .         .                g.5040
                     gctcattgagagtctggcagcgccgggcaactgggccccg       c.-301

 .         .         .         .         .         .                g.5100
 gctgcgcgcagcgtccggcgcgcaccgcgaggggacccggcacggcgagagtcaggtcgc       c.-241

 .         .         .         .         .         .                g.5160
 gggttccaaccacgcggcccgcagacgagcctccgacccggatttctgaagggagggttg       c.-181

 .         .         .         .         .         .                g.5220
 gactgcgctgcgttctgaggggtccggaagttcggacatggtgactgaaggagggtgacg       c.-121

 .         .         .         .         .         .                g.5280
 tggtcagataaggggccgggggcaaagggaagcggccaagagctccagcgtcgccagtgg       c.-61

 .         .         .         .         .         .  | 02          g.6911
 agccgggaggcgcgtgcagcgccagcggaggaggaggatcccggagcccaag | gtcctgtc    c.-1

          .         .         .         .         .         .       g.6971
 ATGGAGCTGCGCTCGGAGCTGCCCAGCGTGCCCGGCGCGGCGACGGCGGCGGCGGCAACA       c.60
 M  E  L  R  S  E  L  P  S  V  P  G  A  A  T  A  A  A  A  T         p.20

          .         .         .         .         .         .       g.7031
 GCGACGGGGCCGCCTGTGGCGTCGGTGGCGTCGGTGGCGGCAGCCGCGGCGGCCGCTGCA       c.120
 A  T  G  P  P  V  A  S  V  A  S  V  A  A  A  A  A  A  A  A         p.40

          .         .         .         .         .         .       g.7091
 TCGCTACCGGTGAGCGTGGCAGGCGGCTTGCTGCGGGGGCCGCCACTGTTGCTGCGGGCA       c.180
 S  L  P  V  S  V  A  G  G  L  L  R  G  P  P  L  L  L  R  A         p.60

          .         .         .         .         .         .       g.7151
 GCCGAGAAGTACCCGCGGACCCCCAAGTGCGCGCGCTGTCGCAACCATGGCGTGGTGTCG       c.240
 A  E  K  Y  P  R  T  P  K  C  A  R  C  R  N  H  G  V  V  S         p.80

          .         .         .         .         .         .       g.7211
 GCCCTCAAGGGCCACAAACGCTACTGTCGCTGGAAGGACTGCCTGTGCGCCAAGTGCACG       c.300
 A  L  K  G  H  K  R  Y  C  R  W  K  D  C  L  C  A  K  C  T         p.100

          .         .         .         .         .         .       g.7271
 CTCATCGCGGAGCGCCAGCGTGTCATGGCGGCGCAGGTGGCGCTGCGCAGGCAGCAGGCG       c.360
 L  I  A  E  R  Q  R  V  M  A  A  Q  V  A  L  R  R  Q  Q  A         p.120

          .         .         .         .         .         .       g.7331
 CAGGAGGAGAACGAGGCGCGCGAGCTGCAGCTGCTCTACGGCACTGCCGAGGGGCTGGCG       c.420
 Q  E  E  N  E  A  R  E  L  Q  L  L  Y  G  T  A  E  G  L  A         p.140

          .         .         .         .         .         .       g.7391
 CTGGCCGCCGCCAACGGCATCATCCCCCCGAGGCCCGCCTACGAGGTCTTCGGTTCAGTG       c.480
 L  A  A  A  N  G  I  I  P  P  R  P  A  Y  E  V  F  G  S  V         p.160

          .         .         .         .         .         .       g.7451
 TGCGCCGCCGACGGCGGGGGACCTGGAGCGGGAGCGCCCGCGGGGACCGGAGGCGGAGCA       c.540
 C  A  A  D  G  G  G  P  G  A  G  A  P  A  G  T  G  G  G  A         p.180

          .          | 03        .         .         .         .    g.8754
 GCTGGCGCAGGGGGCTCAG | AGGCCAAGTTGCAGAAGTTTGACCTGTTTCCTAAGACGCTG    c.600
 A  G  A  G  G  S  E |   A  K  L  Q  K  F  D  L  F  P  K  T  L      p.200

          .         .         .         .         .         .       g.8814
 CTGCAGGCAGGCCGCCCGGGCAGCCCGCTGCCGCCGCCGGTGAAGCCCTTATCACCCGAC       c.660
 L  Q  A  G  R  P  G  S  P  L  P  P  P  V  K  P  L  S  P  D         p.220

          .         .         .         .         .         .       g.8874
 GGCGCAGACTCGGGGCCCGGGACGTCGTCCCCAGAGGTGCGGCCCGGCTCAGGCTCGGAG       c.720
 G  A  D  S  G  P  G  T  S  S  P  E  V  R  P  G  S  G  S  E         p.240

          .         .         .         .         .         .       g.8934
 AACGGCGATGGCGAGTCCTTTTCTGGTTCGCCCCTAGCTCGGGCCTCCAAAGAGGCAGGT       c.780
 N  G  D  G  E  S  F  S  G  S  P  L  A  R  A  S  K  E  A  G         p.260

          .         .         .         .         .         .       g.8994
 GGCAGCTGCCCAGGCAGCGCTGGCCCTGGCGGCGGCGGCGAGGAGGACAGCCCGGGCTCC       c.840
 G  S  C  P  G  S  A  G  P  G  G  G  G  E  E  D  S  P  G  S         p.280

          .         .         .         .         .         .       g.9054
 GCTAGCCCTCTGGGCTCTGAATCCGGTTCAGAGGCTGACAAAGAAGAGGGTGAGGCCGCG       c.900
 A  S  P  L  G  S  E  S  G  S  E  A  D  K  E  E  G  E  A  A         p.300

          .         .         .         .         .         .       g.9114
 CCGGCGCCAGGGCTGGGCGGAGGCTCGGGTCCACGGCAGCGGACGCCGCTGGATATCTTG       c.960
 P  A  P  G  L  G  G  G  S  G  P  R  Q  R  T  P  L  D  I  L         p.320

          .         .         .         .         .         .       g.9174
 ACACGCGTGTTCCCAGGCCACCGGCGAGGCGTCCTGGAGCTGGTGTTGCAGGGCTGCGGC       c.1020
 T  R  V  F  P  G  H  R  R  G  V  L  E  L  V  L  Q  G  C  G         p.340

          .         .         .         .         .         .       g.9234
 GGCGACGTGGTGCAGGCCATCGAGCAGGTGCTGAACCACCACCGTGGGGGCCTGGCGGCC       c.1080
 G  D  V  V  Q  A  I  E  Q  V  L  N  H  H  R  G  G  L  A  A         p.360

          .         .         .         .         .         .       g.9294
 GGCCTGGGCCCTGCGGCGCCCCCAGATAAGGCCGCCGTGGGTGCTGCAGCAGCTGCAGAC       c.1140
 G  L  G  P  A  A  P  P  D  K  A  A  V  G  A  A  A  A  A  D         p.380

          .         .         .         .         .         .       g.9354
 GACGCGTGGCCCAGCCGCGTCGACGCCGCCGCCGCCGCCGCCGCCGCCGCCGGGGGGCCT       c.1200
 D  A  W  P  S  R  V  D  A  A  A  A  A  A  A  A  A  G  G  P         p.400

          .         .         .         .         .         .       g.9414
 GGGCTGCCTGCGCCGCTGCAGGCGGGGCCCGCCGCACCTCCGCACCACAGACCCTTGCTG       c.1260
 G  L  P  A  P  L  Q  A  G  P  A  A  P  P  H  H  R  P  L  L         p.420

          .         .         .         .         .         .       g.9474
 GCCGGCGCCATGGCGCCTGGGGCGCTGGGCTCGCTGAGCAGCCGCTCGGCCTTCTCGCCG       c.1320
 A  G  A  M  A  P  G  A  L  G  S  L  S  S  R  S  A  F  S  P         p.440

          .         .         .         .         .         .       g.9534
 CTGCAGCCCAACGCCAGTCACTTCGGTGCCGACGCGGGCGCCTACCCGCTGGGCGCGCCG       c.1380
 L  Q  P  N  A  S  H  F  G  A  D  A  G  A  Y  P  L  G  A  P         p.460

          .         .         .         .         .         .       g.9594
 CTCGGCCTCAGCCCCCTGCGCCTGGCCTACTCCGCGGCGGCGGCGCACAGCCGCGGTCTG       c.1440
 L  G  L  S  P  L  R  L  A  Y  S  A  A  A  A  H  S  R  G  L         p.480

          .         .         .         .         .         .       g.9654
 GCCTTCATGGCGCCCTACTCCACTGCCGGCTTGGTGCCCACGCTCGGCTTCCGCCCACCC       c.1500
 A  F  M  A  P  Y  S  T  A  G  L  V  P  T  L  G  F  R  P  P         p.500

          .         .         .         .         .         .       g.9714
 ATGGACTACGCCTTTAGCGATCTCATGCGTGACCGCTCGGCCGCCGCTGCTGCGGCGGTG       c.1560
 M  D  Y  A  F  S  D  L  M  R  D  R  S  A  A  A  A  A  A  V         p.520

          .         .         .         .         .         .       g.9774
 CACAAGGAGCCGACCTACGGCGGCGGCCTGTACGGGCCTATGGTCAACGGCGCTCCGGAG       c.1620
 H  K  E  P  T  Y  G  G  G  L  Y  G  P  M  V  N  G  A  P  E         p.540

                                                                    g.9783
 AAGCAGTAG                                                          c.1629
 K  Q  X                                                            p.542

          .         .         .         .         .         .       g.9843
 ggcgaggggcctggcagccggccggtccccaaacaggaaccccagccctgttcccgcggg       c.*60

          .         .         .         .         .         .       g.9903
 ccatcgacccctcttcgcccagcgctctctctgcgccctggctgggcgtcttctcactct       c.*120

          .         .         .         .         .         .       g.9963
 aaggtggtttttgggttttgtttaggagggtgggtggggaaggctgagcaaagggggagc       c.*180

          .         .         .         .         .         .       g.10023
 agctacagacaggtgcaggtgttctcggagggggtgcgcggcctgggtcctcatctccta       c.*240

          .         .         .         .         .         .       g.10083
 cctccggatccctcttccagcctcacccggccccctttccaaaaggctgggaattcatga       c.*300

          .         .         .         .         .         .       g.10143
 gaattcagaggctgcgacagcagcgcaggctcctgcggctccttagctgtgctcatccgg       c.*360

          .         .         .         .         .         .       g.10203
 ctctcagtggatggcaggataatccgagagtcttttctgtgtctccccagccctcacttt       c.*420

          .         .         .         .         .         .       g.10263
 taaaaaatttaaatattcgctctaacaaatataaatttaggatgtataaatctcttggca       c.*480

          .         .         .         .         .         .       g.10323
 ctgagtctttgggacacacatatatatcgatacaattgtaaaaaaaaaaaaaggaaacaa       c.*540

          .         .         .         .         .         .       g.10383
 gttttaaggtgcactttcctcgttgcggtatttgtcgctctctttgttgcttatgccgat       c.*600

          .         .         .         .         .         .       g.10443
 aagcatgggtttccttggtgcagtgtgtttttatatatgtataaatctatatataatcta       c.*660

          .         .         .         .         .         .       g.10503
 tacatatatatatacaagccagtgtataatgttataaaatggaattctaagttattaatt       c.*720

          .         .         .         .         .         .       g.10563
 gtaatctgtaggtgacctcggtattaacgtgaaaaacattcaaaacaagcaaaaaaaggg       c.*780

          .         .         .         .         .         .       g.10623
 acaaaatggaaaaaaattagactatgcgcgcattgtacttatcaggtttagagattaaat       c.*840

          .         .         .         .         .         .       g.10683
 atattggaaactcgggatgaatcctgcccacctgcccctcttgcctgcggctggtctgtc       c.*900

          .         .         .         .         .         .       g.10743
 cctaaggagccgtcaaggtgcgcactgaagcaggaacagagcgacgtgtgactgagccag       c.*960

          .         .         .         .         .         .       g.10803
 aaccgcccgctcgcgggcccatcctcgcctcccgggactcgccaaacgccctgactgaag       c.*1020

          .         .         .         .         .         .       g.10863
 ggcccgcagcggaaaacgctgctgcagagcagcactttgtgctttcctttgcatagatat       c.*1080

          .         .         .                                     g.10897
 gagctagaaataaatgttattttctaagaaaaca                                 c.*1114

 (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 DMRT-like family A2 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.