EF-hand calcium binding domain 2 (EFCAB2) - coding DNA reference sequence

(used for variant description)

(last modified August 4, 2023)

This file was created to facilitate the description of sequence variants on transcript NM_032328.3 in the EFCAB2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering EFCAB2 transcript NM_032328.3.

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

 (upstream sequence)
                                         .         .                g.5025
                                    gggaggcgggctgcgaatgggaagc       c.-241

 .         .         .         .         .         .                g.5085
 gggaggaggaggccgggccgcgggctggttctatcacccccttgggagcccagctcttca       c.-181

 .         .         .         .         .         .                g.5145
 cctagctctccggcgcttttcaaaatctgcagttaacaacaaaaatcgagcaacgccacg       c.-121

 .         .         .          | 02        .         .             g.5490
 tcgcacaaacaggacaggagggggcgaggg | gccaggctcgccgcggggcgctgagcaggc    c.-61

 .         .         .         .         .         .                g.5550
 cgggacaccgcggccgaggttatcgttaggcatctcccaggcgaccggctccgcagcaag       c.-1

          .         .      | 03  .         .         .         .    g.52408
 ATGGCGGACGAGAAGGACAGGGAAG | AGATAATAGTAGCAGAATTTCACAAAAAAATCAAA    c.60
 M  A  D  E  K  D  R  E  E |   I  I  V  A  E  F  H  K  K  I  K      p.20

          .         .         .         .         . | 04       .    g.94527
 GAGGCATTTGAAGTCTTTGACCATGAGTCGAATAATACAGTGGATGTGAG | AGAGATTGGA    c.120
 E  A  F  E  V  F  D  H  E  S  N  N  T  V  D  V  R  |  E  I  G      p.40

          .         .         .         .         .         .       g.94587
 ACAATTATCAGGTCATTAGGATGCTGTCCTACGGAAGGAGAGCTGCATGATCTGATTGCA       c.180
 T  I  I  R  S  L  G  C  C  P  T  E  G  E  L  H  D  L  I  A         p.60

     | 05    .         .         .         .         .         .    g.117271
 GAG | GTAGAGGAAGAAGAACCCACTGGATACATTCGATTCGAAAAATTTCTTCCGGTGATG    c.240
 E   | V  E  E  E  E  P  T  G  Y  I  R  F  E  K  F  L  P  V  M      p.80

          .         .    | 06    .         .         .         .    g.118610
 ACAGAAATACTACTAGAAAGAAA | ATACAGACCAATTCCAGAAGATGTCCTTCTTCGAGCT    c.300
 T  E  I  L  L  E  R  K  |  Y  R  P  I  P  E  D  V  L  L  R  A      p.100

        | 07 .         .         .         .         .         .    g.118807
 TTTGAG | GTTTTAGATTCAGCTAAACGTGGGTTTCTTACTAAGGACGAGCTGATCAAGTAT    c.360
 F  E   | V  L  D  S  A  K  R  G  F  L  T  K  D  E  L  I  K  Y      p.120

          .    | 08    .         .         .         .         .    g.122423
 ATGACTGAAGAAG | GTGAGCCTTTTTCTCAAGAGGAAATGGAAGAAATGTTGTCTGCTGCA    c.420
 M  T  E  E  G |   E  P  F  S  Q  E  E  M  E  E  M  L  S  A  A      p.140

          .         .         .         .         .         .       g.122483
 ATTGATCCAGAATCAAATTCAATTAATTACAAGGACTATATAACAATGATGGTGATAGAT       c.480
 I  D  P  E  S  N  S  I  N  Y  K  D  Y  I  T  M  M  V  I  D         p.160

                                                                    g.122492
 GAAAATTAA                                                          c.489
 E  N  X                                                            p.162

          .         .         .         .         .         .       g.122552
 atgttctaaagataatttctgattgaaagaacaattttagaaattgcttgttcttgttaa       c.*60

          .         .         .         .         .         .       g.122612
 tttcacatcttatcttaggattcctatatgtgatatttaataccttgtgacataactatt       c.*120

          .         .         .         .         .         .       g.122672
 ttaagacactttgtttttaaagatgatcgtaacactttaaaccaaatttagtatgtctag       c.*180

          .         .         .         .         .         .       g.122732
 ccttacagaatgataaattactatttatttaaaaactattcttaaaacattttaacatta       c.*240

          .         .         .         .         .         .       g.122792
 gaatggattgttgtttattttctacaataaaactcaggtcaccttcgaattaattaagct       c.*300

          .         .         .         .         .         .       g.122852
 gacaaaatgaaaatgacttaattacccaaggtttggcatgtaaagatcttaagagggggc       c.*360

          .         .         .         .         .         .       g.122912
 agaacgaaccactcgaaaacgagtagcagtgtaatgaaggcttcttttttaaacaataac       c.*420

          .         .         .         .         .         .       g.122972
 aaatgcttcatcaatctgagtgtggaaggtgatttatcaaaataaatattactaatttat       c.*480

                                                                    g.122978
 tttttt                                                             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 EF-hand calcium binding domain 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.