calcium binding protein 2 (CABP2) - coding DNA reference sequence

(used for variant description)

(last modified April 30, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_016366.2 in the CABP2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_032982.1, covering CABP2 transcript NM_016366.2.

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

 (upstream sequence)
                     .         .         .         .                g.5042
                   tcgggagcagctgggggctggcaggagtcctcaggcagcagc       c.-61

 .         .         .         .         .         .                g.5102
 atccgccgaggcccacccgggccacccccggggttccaggcctggcatggttcagggccc       c.-1

          .         .         .         .   | 02     .         .    g.5730
 ATGGGGAACTGTGCCAAGCGGCCCTGGCGCCGGGGCCCTAAG | GACCCCTTGCAGTGGCTC    c.60
 M  G  N  C  A  K  R  P  W  R  R  G  P  K   | D  P  L  Q  W  L      p.20

          .         .         .         .         .         .       g.5790
 GGCTCCCCACCAAGGGGCTCCTGCCCCAGCCCCAGCTCCAGCCCCAAGGAGCAGGGGGAC       c.120
 G  S  P  P  R  G  S  C  P  S  P  S  S  S  P  K  E  Q  G  D         p.40

          .         .         .         .         .         .       g.5850
 CCCGCGCCAGGCGTCCAGGGCTACTCGGTGCTCAACAGCCTGGTGGGGCCTGCCTGCATC       c.180
 P  A  P  G  V  Q  G  Y  S  V  L  N  S  L  V  G  P  A  C  I         p.60

          .         .         .    | 03    .         .         .    g.6473
 TTCCTGCGGCCCAGCATTGCCGCCACCCAACTC | GACCGGGAGCTGCGGCCCGAGGAGATT    c.240
 F  L  R  P  S  I  A  A  T  Q  L   | D  R  E  L  R  P  E  E  I      p.80

      | 04   .         .         .         .         .         .    g.7325
 GAAG | AGCTGCAGGTCGCCTTCCAGGAGTTTGACCGAGACCGGGACGGCTACATTGGCTGC    c.300
 E  E |   L  Q  V  A  F  Q  E  F  D  R  D  R  D  G  Y  I  G  C      p.100

          .         .         .         .         .         .       g.7385
 CGGGAGCTGGGTGCCTGCATGCGGACCCTGGGCTACATGCCCACCGAGATGGAGCTCATC       c.360
 R  E  L  G  A  C  M  R  T  L  G  Y  M  P  T  E  M  E  L  I         p.120

          .          | 05        .         .         .         .    g.8309
 GAGATCTCACAACAAATCA | GTGGCGGAAAGGTGGACTTTGAAGACTTCGTGGAGCTGATG    c.420
 E  I  S  Q  Q  I  S |   G  G  K  V  D  F  E  D  F  V  E  L  M      p.140

          .         .         .         .         .         .       g.8369
 GGCCCCAAGCTGCTGGCAGAGACGGCAGACATGATCGGTGTCCGGGAGCTACGGGACGCC       c.480
 G  P  K  L  L  A  E  T  A  D  M  I  G  V  R  E  L  R  D  A         p.160

           | 06        .         .         .         .         .    g.8539
 TTCCGGGAG | TTCGACACCAATGGGGACGGCCGCATCAGCGTGGGCGAGCTCCGGGCGGCC    c.540
 F  R  E   | F  D  T  N  G  D  G  R  I  S  V  G  E  L  R  A  A      p.180

          .         .         .         .         .         .       g.8599
 CTCAAGGCCCTGCTGGGGGAGCGCCTCAGCCAGCGGGAGGTGGACGAGATCCTCCAGGAC       c.600
 L  K  A  L  L  G  E  R  L  S  Q  R  E  V  D  E  I  L  Q  D         p.200

          .         .         .        | 07.         .         .    g.9287
 GTGGACCTCAATGGGGACGGTCTGGTCGACTTCGAAG | AGTTTGTGCGAATGATGTCTCGG    c.660
 V  D  L  N  G  D  G  L  V  D  F  E  E |   F  V  R  M  M  S  R      p.220

                                                                    g.9290
 TGA                                                                c.663
 X                                                                  p.220

          .         .         .         .         .         .       g.9350
 gcctgtacagaagctggaggcagcataaaggactcaaggaccacagcctctgcccaccag       c.*60

          .         .         .         .         .         .       g.9410
 catgttccttgaagcccatcgcctctagcggggaccctcctttcctccccatcccacctg       c.*120

          .         .         .         .         .         .       g.9470
 tgtgcagtgcccttgcctgccttcacccccaccaccacttctccaataaagccgcctggc       c.*180

          .                                                         g.9482
 cttgtctctgtc                                                       c.*192

 (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 Calcium binding protein 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.