X-ray repair complementing defective repair in Chinese hamster cells 2 (XRCC2) - coding DNA reference sequence

(used for variant description)

(last modified April 15, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_005431.1 in the XRCC2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_027988.1, covering XRCC2 transcript NM_005431.1.

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

 (upstream sequence)
                                         .         .                g.5026
                                   tttgactggccgtagagtctgcgcag       c.-61

 .         .         .         .         .         .                g.5086
 ttggtgaatggcgttggtggcgggaaagttgagtctctcctgcgccgagccttcggggcg       c.-1

          .         .         .          | 02        .         .    g.20404
 ATGTGTAGTGCCTTCCATAGGGCTGAGTCTGGGACCGAG | CTCCTTGCCCGACTTGAAGGT    c.60
 M  C  S  A  F  H  R  A  E  S  G  T  E   | L  L  A  R  L  E  G      p.20

          .         .         .         .         .         .       g.20464
 AGAAGTTCCTTGAAAGAAATAGAACCAAATCTGTTTGCTGATGAAGATTCACCTGTGCAT       c.120
 R  S  S  L  K  E  I  E  P  N  L  F  A  D  E  D  S  P  V  H         p.40

   | 03      .         .         .         .         .         .    g.31861
 G | GTGATATTCTTGAATTTCATGGCCCAGAAGGAACAGGAAAAACAGAAATGCTTTATCAC    c.180
 G |   D  I  L  E  F  H  G  P  E  G  T  G  K  T  E  M  L  Y  H      p.60

          .         .         .         .         .         .       g.31921
 CTAACAGCACGATGTATACTTCCCAAATCAGAAGGTGGCCTGGAAGTAGAAGTCTTATTT       c.240
 L  T  A  R  C  I  L  P  K  S  E  G  G  L  E  V  E  V  L  F         p.80

          .         .         .         .         .         .       g.31981
 ATTGATACAGATTACCACTTTGATATGCTCCGGCTAGTTACAATTCTTGAGCACAGACTA       c.300
 I  D  T  D  Y  H  F  D  M  L  R  L  V  T  I  L  E  H  R  L         p.100

          .         .         .         .         .         .       g.32041
 TCCCAAAGCTCTGAAGAAATAATCAAATACTGCCTGGGAAGATTTTTTTTGGTGTACTGC       c.360
 S  Q  S  S  E  E  I  I  K  Y  C  L  G  R  F  F  L  V  Y  C         p.120

          .         .         .         .         .         .       g.32101
 AGTAGTAGCACCCACTTACTTCTTACACTTTACTCACTAGAAAGTATGTTTTGTAGTCAC       c.420
 S  S  S  T  H  L  L  L  T  L  Y  S  L  E  S  M  F  C  S  H         p.140

          .         .         .         .         .         .       g.32161
 CCATCTCTCTGCCTTTTGATTTTGGATAGCCTGTCAGCTTTTTACTGGATAGACCGCGTC       c.480
 P  S  L  C  L  L  I  L  D  S  L  S  A  F  Y  W  I  D  R  V         p.160

          .         .         .         .         .         .       g.32221
 AATGGAGGAGAAAGTGTGAACTTACAGGAGTCTACTCTGAGGAAATGTTCTCAGTGCTTA       c.540
 N  G  G  E  S  V  N  L  Q  E  S  T  L  R  K  C  S  Q  C  L         p.180

          .         .         .         .         .         .       g.32281
 GAGAAGCTTGTAAATGACTATCGCCTGGTTCTTTTTGCAACGACACAAACTATAATGCAG       c.600
 E  K  L  V  N  D  Y  R  L  V  L  F  A  T  T  Q  T  I  M  Q         p.200

          .         .         .         .         .         .       g.32341
 AAAGCCTCGAGCTCATCAGAAGAACCTTCTCATGCCTCTCGACGACTGTGTGATGTGGAC       c.660
 K  A  S  S  S  S  E  E  P  S  H  A  S  R  R  L  C  D  V  D         p.220

          .         .         .         .         .         .       g.32401
 ATAGACTACAGACCTTATCTCTGTAAGGCATGGCAGCAACTGGTGAAGCACAGGATGTTT       c.720
 I  D  Y  R  P  Y  L  C  K  A  W  Q  Q  L  V  K  H  R  M  F         p.240

          .         .         .         .         .         .       g.32461
 TTCTCCAAACAAGATGATTCTCAAAGCAGCAACCAATTTTCATTAGTTTCACGTTGTTTA       c.780
 F  S  K  Q  D  D  S  Q  S  S  N  Q  F  S  L  V  S  R  C  L         p.260

          .         .         .         .         .         .       g.32521
 AAAAGTAACAGTTTAAAAAAACATTTTTTTATTATTGGAGAAAGTGGGGTTGAATTTTGT       c.840
 K  S  N  S  L  K  K  H  F  F  I  I  G  E  S  G  V  E  F  C         p.280

                                                                    g.32524
 TGA                                                                c.843
 X                                                                  p.280

          .         .         .         .         .         .       g.32584
 tatacatcataaaatagtcttttgcagggtactacgcaagccttaaaatttttcttaaga       c.*60

          .         .         .         .         .         .       g.32644
 cagagtcttgctctgtctcccaggctggagtgcagtggcacaatcatggctcactgcagc       c.*120

          .         .         .         .         .         .       g.32704
 cttgaactcctggcctcaagggatcctcctatgtgtgcctcctagagtgcagggattaca       c.*180

          .         .         .         .         .         .       g.32764
 ggcgtgagccactgctcgtggccaaaagttttctttttttttttttttctttttgaaaca       c.*240

          .         .         .         .         .         .       g.32824
 gtcttactctgtctcccaggctgctggagtgcagtggcacaatctcggcccgctgcagcc       c.*300

          .         .         .         .         .         .       g.32884
 tctgcctcttgggttcaagtgattcttccacctcagcctcccaggtagctgggattacag       c.*360

          .         .         .         .         .         .       g.32944
 gcacccaccaccacgcctggctaatttttgtatttttaatagagacggggtttcaccatg       c.*420

          .         .         .         .         .         .       g.33004
 ttggccaggctggtctcgaactcctgacctcaagtgatccacccacctcggcctcccaaa       c.*480

          .         .         .         .         .         .       g.33064
 gtgctaggattacaggcccgtgcccagccctaaagttttaaactctaggggaattaacag       c.*540

          .         .         .         .         .         .       g.33124
 tatttctttacagaatggatttgttaaactagcacagtaaaagtaaagactattctgttt       c.*600

          .         .         .         .         .         .       g.33184
 ctaggctgttgaatcaaagtgattttagcaattaaactttgtattaatttaccaccaata       c.*660

          .         .         .         .         .         .       g.33244
 tttcttcacaaaggaacttttaaaagattatctcagaaagtaaatctgagaggtaagaag       c.*720

          .         .         .         .         .         .       g.33304
 taataatgagtaaatggtaagtacttgagtaaatctaaagaaatattgatagtaaggcaa       c.*780

          .         .         .         .         .         .       g.33364
 tcctaagcaaaaagaacaaagctggaggcatcacgctacccagcttcaaactatactaca       c.*840

          .         .         .         .         .         .       g.33424
 aggctacagtaaccaaaacagcatagtactggcacaaaaacacacgtagactgatggaac       c.*900

          .         .         .         .         .         .       g.33484
 agaatagagaatttagaaatgagaccacacacctataatttttttgatcttcgatgaacc       c.*960

          .         .         .         .         .         .       g.33544
 tgacaaaaacaagcaatgggcaatggattctctattcaataaatcgtgctgggataactg       c.*1020

          .         .         .         .         .         .       g.33604
 gccagccatatggaaaagattgaaaatggacgccttccttatgccatatacaaaaattaa       c.*1080

          .         .         .         .         .         .       g.33664
 ctcaagatggattaaagacttaatgtaaaacccaaaacagtaaaaatcctggaagacaac       c.*1140

          .         .         .         .         .         .       g.33724
 ccaggcagtaccattcaggacataggcacaggcaaagatttcatgacgaagacgccaaaa       c.*1200

          .         .         .         .         .         .       g.33784
 acaattgcaacagaagcaaaaattcacaaatgggatctaattaaactaaagagctgcaca       c.*1260

          .         .         .         .         .         .       g.33844
 gcaaaagaaactatcaagagagtaaacagacagcttacagaatgggagaaaattgttgca       c.*1320

          .         .         .         .         .         .       g.33904
 aactatgcatctgagaaaggtctgaaatccagcatctatacgtaatttaaacaaatttag       c.*1380

          .         .         .         .         .         .       g.33964
 aagaaaaaaccaccccattaaaaagtgggcaaaggacatgaacagacacttttcaaaaga       c.*1440

          .         .         .         .         .         .       g.34024
 agacatctgtggccaacaatcctatggaaaaaagcccagcatcactgatcattagagaaa       c.*1500

          .         .         .         .         .         .       g.34084
 tgcaaatcgaaacaacaacgagataccatctcacaccagtccaaatggctattataaaaa       c.*1560

          .         .         .         .         .         .       g.34144
 tgtcagaaaataacagatgctggtgaggttgtggagaaaaagatatgcttatacactgtt       c.*1620

          .         .         .         .         .         .       g.34204
 ggtggaaatgtaaattaaattagttcagccattgtggaagacagtgtggggataaagaca       c.*1680

          .         .         .         .         .         .       g.34264
 gagataccattcaacccagcaatctcattactgggtatatacccaaaggaatagaaatca       c.*1740

          .         .         .         .         .         .       g.34324
 ttgttataaagacacatgcacgcgtatgttcgttgcagcactgcccatcagtgacagact       c.*1800

          .         .         .         .         .         .       g.34384
 ggattaaaaaaatgtggtacatacacaccagggaatactatacagccataaaaaggaaca       c.*1860

          .         .         .         .         .         .       g.34444
 agactgactgggcgtggtggctcatgcctgtgatcctagcactttgcgaggccgaggtgg       c.*1920

          .         .         .         .         .         .       g.34504
 gtggattgcccgcgctcaggaggtcaagaccagcctgggcaacacggtgaaaccccatct       c.*1980

          .         .         .         .         .         .       g.34564
 ctattaaaatacaaaaaattagctgggcatggtggtgcgtgcctgtagtgccagctactc       c.*2040

          .         .         .         .         .         .       g.34624
 aggaggccgaggcaggagaattgctggaacccaggaggtggaggttgcagtgagctgaga       c.*2100

          .         .         .         .                           g.34668
 tcgcgccattgcactcccgcctgggcgactccatctctaaaaaa                       c.*2144

 (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 X-ray repair complementing defective repair in Chinese hamster cells 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.