ventral anterior homeobox 2 (VAX2) - coding DNA reference sequence

(used for variant description)

(last modified May 15, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_012476.2 in the VAX2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_030009.1, covering VAX2 transcript NM_012476.2.

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

 (upstream sequence)
                               .         .         .                g.5032
                             ccgccgtagaggggttggcagtggcggtcagc       c.-1

          .         .         .         .         .         .       g.5092
 ATGGGCGATGGGGGCGCCGAGCGCGACCGGGGCCCCGCGCGCCGGGCGGAGTCTGGTGGC       c.60
 M  G  D  G  G  A  E  R  D  R  G  P  A  R  R  A  E  S  G  G         p.20

          .         .         .         .         .         .       g.5152
 GGCGGTGGGCGCTGCGGAGACCGCAGCGGAGCGGGGGACTTGCGAGCTGATGGCGGTGGC       c.120
 G  G  G  R  C  G  D  R  S  G  A  G  D  L  R  A  D  G  G  G         p.40

          .         .         .         .         .         .       g.5212
 CACAGCCCAACGGAGGTGGCCGGGACCTCAGCCTCCAGTCCCGCAGGCTCCAGGGAGAGT       c.180
 H  S  P  T  E  V  A  G  T  S  A  S  S  P  A  G  S  R  E  S         p.60

          .         .         .         .         .         .       g.5272
 GGAGCCGACAGCGACGGGCAGCCCGGGCCCGGCGAGGCAGACCACTGCCGCCGCATACTG       c.240
 G  A  D  S  D  G  Q  P  G  P  G  E  A  D  H  C  R  R  I  L         p.80

         | 02.         .         .         .         .         .    g.25561
 GTGCGAG | ATGCCAAAGGGACAATTCGGGAAATTGTCCTGCCTAAGGGCCTGGACCTGGAC    c.300
 V  R  D |   A  K  G  T  I  R  E  I  V  L  P  K  G  L  D  L  D      p.100

          .         .         .         .         .         .       g.25621
 CGGCCCAAGCGGACACGTACATCCTTCACTGCCGAGCAGCTGTACCGCCTGGAGATGGAG       c.360
 R  P  K  R  T  R  T  S  F  T  A  E  Q  L  Y  R  L  E  M  E         p.120

          .         .         .         .         .         .       g.25681
 TTCCAGCGCTGCCAGTATGTGGTGGGCCGCGAGCGCACTGAGCTGGCCCGCCAGCTGAAC       c.420
 F  Q  R  C  Q  Y  V  V  G  R  E  R  T  E  L  A  R  Q  L  N         p.140

          .      | 03  .         .         .         .         .    g.37222
 CTCTCCGAGACCCAG | GTGAAGGTCTGGTTCCAGAACCGCCGCACCAAGCAGAAGAAAGAC    c.480
 L  S  E  T  Q   | V  K  V  W  F  Q  N  R  R  T  K  Q  K  K  D      p.160

          .         .         .         .         .         .       g.37282
 CAGAGCAGAGACCTGGAGAAGCGGGCGTCCTCCTCAGCCTCCGAGGCCTTTGCCACCTCC       c.540
 Q  S  R  D  L  E  K  R  A  S  S  S  A  S  E  A  F  A  T  S         p.180

          .         .         .         .         .         .       g.37342
 AACATTCTGCGGCTGCTGGAGCAGGGCCGGCTGCTCTCTGTGCCCAGGGCCCCTAGCCTC       c.600
 N  I  L  R  L  L  E  Q  G  R  L  L  S  V  P  R  A  P  S  L         p.200

          .         .         .         .         .         .       g.37402
 CTGGCGCTGACCCCTAGCCTGCCAGGCCTACCTGCCAGCCACAGGGGCACCTCCTTAGGT       c.660
 L  A  L  T  P  S  L  P  G  L  P  A  S  H  R  G  T  S  L  G         p.220

          .         .         .         .         .         .       g.37462
 GACCCCAGGAACTCCTCCCCACGCCTCAACCCGCTGTCCTCGGCCTCAGCGTCCCCCCCA       c.720
 D  P  R  N  S  S  P  R  L  N  P  L  S  S  A  S  A  S  P  P         p.240

          .         .         .         .         .         .       g.37522
 CTGCCGCCCCCTCTGCCAGCTGTCTGCTTTTCCTCGGCCCCGCTCCTGGATCTGCCTGCC       c.780
 L  P  P  P  L  P  A  V  C  F  S  S  A  P  L  L  D  L  P  A         p.260

          .         .         .         .         .         .       g.37582
 GGCTACGAACTGGGTTCCTCGGCCTTCGAGCCATACAGCTGGCTAGAACGGAAAGTGGGC       c.840
 G  Y  E  L  G  S  S  A  F  E  P  Y  S  W  L  E  R  K  V  G         p.280

          .         .         .                                     g.37615
 AGCGCCAGCAGCTGCAAGAAAGCTAACACTTAA                                  c.873
 S  A  S  S  C  K  K  A  N  T  X                                    p.290

          .         .         .         .         .         .       g.37675
 gactcccaccctgtgacactgagtcccgagcacagcaccttcccagtctcctgtgcccca       c.*60

          .         .         .         .         .         .       g.37735
 gcggacagcactgagcaggccccggagaggaggggctgcagccacacactcttccccacc       c.*120

          .         .         .         .         .         .       g.37795
 tgccccccagctcagagactcgtgaccaaatggccttggtcccgcagcttgtgtgcgtga       c.*180

          .         .         .         .         .         .       g.37855
 gtgcagtgtgagtgtgtgtgtctctcactgaaataaaaggaaaacaatgacaagaaggga       c.*240

                                                                    g.37857
 aa                                                                 c.*242

 (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 Ventral anterior homeobox 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.