chromosome 21 open reading frame 2 (C21orf2) - coding DNA reference sequence

(used for variant description)

(last modified November 11, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_004928.2 in the C21orf2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000021.8, covering C21orf2 transcript NM_004928.2.

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

 (upstream sequence)
                                         .         .                g.5028
                                 atgagcaggagcagagccaacgtgtcag       c.-181

 .         .         .         .         .         .                g.5088
 cggcgcccaagcggccccagcgggctcgcgtcgccccgctctcctcaccgagccgccaat       c.-121

 .         .         .         .         .         .                g.5148
 cggctcaggatccgcccctgacgacgcgggccccgcccctggagacacgcgccgcgcagt       c.-61

 .         .         .         .         .         .                g.5208
 cgtcacccgcccgggatcaggaggccgggggcgcccgccggtcgggcctgggcggccgcc       c.-1

          .         .         .         .         .         .       g.5268
 ATGAAGCTGACGCGGAAGATGGTTCTGACCCGGGCCAAGGCCTCGGAGCTGCACAGCGTG       c.60
 M  K  L  T  R  K  M  V  L  T  R  A  K  A  S  E  L  H  S  V         p.20

          .        | 02.         .       | 03 .         .         . g.8622
 CGCAAGCTCAACTGCTG | GGGCAGCCGCCTCACAGAT | ATCTCCATTTGCCAGGAGATGCCC c.120
 R  K  L  N  C  W  |  G  S  R  L  T  D   | I  S  I  C  Q  E  M  P   p.40

          .         .    | 04    .         .         .         .    g.11177
 AGCCTGGAGGTGATCACGCTCAG | TGTCAACAGCATCTCCACCCTGGAGCCTGTGAGCCGG    c.180
 S  L  E  V  I  T  L  S  |  V  N  S  I  S  T  L  E  P  V  S  R      p.60

          .         .         .         .         .         .       g.11237
 TGCCAGCGCCTGAGTGAGCTGTACCTGCGGAGGAACCGCATCCCCAGCCTGGCTGAGCTC       c.240
 C  Q  R  L  S  E  L  Y  L  R  R  N  R  I  P  S  L  A  E  L         p.80

          .         .         .         .         .         .       g.11297
 TTCTACCTGAAGGGGCTGCCGCGTCTGCGGGTGCTGTGGCTGGCCGAGAACCCGTGCTGC       c.300
 F  Y  L  K  G  L  P  R  L  R  V  L  W  L  A  E  N  P  C  C         p.100

          .         .         .         .         .         .       g.11357
 GGCACCAGCCCCCACCGCTACCGCATGACCGTGCTGCGCACCCTGCCGCGCCTACAGAAG       c.360
 G  T  S  P  H  R  Y  R  M  T  V  L  R  T  L  P  R  L  Q  K         p.120

          .    | 05    .         .         .         .         .    g.12435
 CTGGACAACCAGG | CTGTGACGGAGGAGGAGCTGTCCCGTGCACTGAGTGAGGGAGAGGAG    c.420
 L  D  N  Q  A |   V  T  E  E  E  L  S  R  A  L  S  E  G  E  E      p.140

          .         .         .         .         .         .       g.12495
 ATCACTGCGGCCCCAGAGAGAGAGGGCACAGGCCACGGCGGCCCCAAGCTATGCTGCACA       c.480
 I  T  A  A  P  E  R  E  G  T  G  H  G  G  P  K  L  C  C  T         p.160

          .         .         .         .         .         .       g.12555
 CTGAGCTCCCTCAGCTCCGCTGCTGAGACTGGCCGGGACCCGCTGGACAGCGAGGAGGAG       c.540
 L  S  S  L  S  S  A  A  E  T  G  R  D  P  L  D  S  E  E  E         p.180

       | 06  .         .         .         .         .         .    g.13538
 GCAAC | CAGCGGCGCCCAGGATGAACGTGGCCTGAAGCCGCCTTCCCGGGGCCAGTTTCCT    c.600
 A  T  |  S  G  A  Q  D  E  R  G  L  K  P  P  S  R  G  Q  F  P      p.200

          .         .         .         .   | 07     .         .    g.14094
 TCCCTCTCAGCCAGGGATGCCTCGAGCAGCCACAGGGGCAGG | AACGTCCTGACTGCCATC    c.660
 S  L  S  A  R  D  A  S  S  S  H  R  G  R   | N  V  L  T  A  I      p.220

          .         .         .         .         .         .       g.14154
 CTGCTGCTGCTGCGGGAGCTGGATGCAGAGGGGCTGGAGGCCGTGCAGCAGACTGTGGGC       c.720
 L  L  L  L  R  E  L  D  A  E  G  L  E  A  V  Q  Q  T  V  G         p.240

          .         .         .         .         .                 g.14205
 AGCCGGCTGCAGGCCCTGCGTGGGGAAGAGGTGCAGGAGCACGCCGAGTGA                c.771
 S  R  L  Q  A  L  R  G  E  E  V  Q  E  H  A  E  X                  p.256

          .         .         .         .         .         .       g.14265
 ccgcaggacctgaacgccgctccagcctccacggggaccccagcgtcttccccagccccc       c.*60

          .         .         .         .         .         .       g.14325
 gggagctggagggtggctgccatggccgcagccccggccccacacaaaagcctccccggt       c.*120

          .         .         .         .         .         .       g.14385
 ttgccacatcggccgagggcaggagtgggtgttaggtactggctaaccggggcggtggag       c.*180

          .         .         .         .         .         .       g.14445
 atgcctgtctacaccagtcctgtccccaggactccccttctgtggtctggaggttctagg       c.*240

          .         .         .         .         .         .       g.14505
 ctggcctgggctcttaaagggaggattttgcaggctgtcctccctaataaaagattttcc       c.*300

          .         .         .         .         .         .       g.14565
 caaggttgatctggaggtgacgtttcccaaggcatggttgtgacagtcttcctgaaagca       c.*360

          .         .         .         .         .         .       g.14625
 agggccgtttctccacagaatgaggaggtcttcacggatggctttgccgattccagccct       c.*420

          .         .         .         .         .         .       g.14685
 tggtccttggatagatttctgttgggcaagggagacttcgagaatgctggcacccatagc       c.*480

          .         .         .         .         .         .       g.14745
 gacatctgccctgagctgctcagcaggcaggcagcagcctcccgcacccatgggagagag       c.*540

          .         .         .         .         .         .       g.14805
 ttttgttttcttggccgggctgggcaggtgcgccttcctttctctctcctgtgaagaact       c.*600

          .         .         .         .         .         .       g.14865
 gcaggagggccctcagctgtgaggttgtggatgaacaggcctgttcgccctggggtccgg       c.*660

          .         .         .         .         .         .       g.14925
 gcctggcacaggaagcagctagactaggggagtccttggagcatctgagaggggttttct       c.*720

          .         .         .         .         .         .       g.14985
 ttcctctgggaagagtcgcaagtcttatgaggatgccacaatctgggcagtgacccgtgg       c.*780

          .         .         .         .         .         .       g.15045
 ccctggggaccttcctagtgccccccaaaaccaaggaagcattcacgtgagatggggagt       c.*840

          .         .         .         .         .         .       g.15105
 cagccttccagctggtgtgtaggaaagccaggtccctgggcccttgtcccatgtggggtt       c.*900

          .         .         .         .         .         .       g.15165
 gagatccagatctccatgagatattcccatcctccgccgagcggtgatgcgtgaccgtgt       c.*960

          .         .         .         .         .         .       g.15225
 gtgcaggccgctgttctcccaagctcggggccatgccgtgccaccgtcaccagagccagc       c.*1020

          .         .         .         .         .         .       g.15285
 tgcagcactggggcagccactgtcgccggacttggggaagcccagggtgaagacagtcac       c.*1080

          .         .         .         .         .         .       g.15345
 tcatccgtgcaagctctccagaagggatgcaagctctccagaaggggtgtgatctctgag       c.*1140

          .         .         .         .         .         .       g.15405
 cagtggggagtggagtcaccactcgggacatagagggtggacagttcaggcctgtgtctg       c.*1200

          .         .         .         .         .                 g.15459
 cctccttgggactgtggagtgggtgccctcagtaaagcgctttgttggaatggt             c.*1254

 (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 Chromosome 21 open reading frame 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.