ribonuclease H2, subunit A (RNASEH2A) - coding DNA reference sequence

(used for variant description)

(last modified February 4, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_006397.2 in the RNASEH2A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012662.1, covering RNASEH2A transcript NM_006397.2.

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

 (upstream sequence)
 .         .         .         .         .         .                g.5060
 gcgccgagacccgctcctgcagtattagttcttgcagctggtggtggcggctgaggcggc       c.-1

          .         .         .         .         .         .       g.5120
 ATGGATCTCAGCGAGCTGGAGAGAGACAATACAGGCCGCTGTCGCCTGAGTTCGCCTGTG       c.60
 M  D  L  S  E  L  E  R  D  N  T  G  R  C  R  L  S  S  P  V         p.20

          .         .         .         .         .         .       g.5180
 CCCGCGGTGTGCCGCAAGGAGCCTTGCGTCCTGGGCGTCGATGAGGCGGGCAGGGGCCCC       c.120
 P  A  V  C  R  K  E  P  C  V  L  G  V  D  E  A  G  R  G  P         p.40

         | 02.         .         .         .         .         .    g.5447
 GTGCTGG | GCCCCATGGTCTACGCCATCTGTTATTGTCCCCTGCCTCGCCTGGCAGATCTG    c.180
 V  L  G |   P  M  V  Y  A  I  C  Y  C  P  L  P  R  L  A  D  L      p.60

          .          | 03        .         .         .         .    g.5633
 GAGGCGCTGAAAGTGGCAG | ACTCAAAGACCCTATTGGAGAGCGAGCGGGAAAGGCTGTTT    c.240
 E  A  L  K  V  A  D |   S  K  T  L  L  E  S  E  R  E  R  L  F      p.80

          .         .         .         .         .         .       g.5693
 GCGAAAATGGAGGACACGGACTTTGTCGGCTGGGCGCTGGATGTGCTGTCTCCAAACCTC       c.300
 A  K  M  E  D  T  D  F  V  G  W  A  L  D  V  L  S  P  N  L         p.100

          .         .    | 04    .         .         .         .    g.5842
 ATCTCTACCAGCATGCTTGGGCG | GGTCAAATACAACCTGAACTCCCTGTCACATGATACA    c.360
 I  S  T  S  M  L  G  R  |  V  K  Y  N  L  N  S  L  S  H  D  T      p.120

          .         .         .         .         .  | 05      .    g.8466
 GCCACTGGGCTTATACAGTATGCATTGGACCAGGGCGTGAACGTCACCCAG | GTATTCGTG    c.420
 A  T  G  L  I  Q  Y  A  L  D  Q  G  V  N  V  T  Q   | V  F  V      p.140

          .         .         .         .         .         .       g.8526
 GACACCGTAGGGATGCCAGAGACATACCAGGCGCGGCTGCAGCAAAGTTTTCCCGGGATT       c.480
 D  T  V  G  M  P  E  T  Y  Q  A  R  L  Q  Q  S  F  P  G  I         p.160

          .         .         .         .         .         .       g.8586
 GAGGTGACGGTCAAGGCCAAAGCAGATGCCCTCTACCCGGTGGTTAGTGCTGCCAGCATC       c.540
 E  V  T  V  K  A  K  A  D  A  L  Y  P  V  V  S  A  A  S  I         p.180

           | 06        .         .         .         .         .    g.8754
 TGTGCCAAG | GTGGCCCGGGACCAGGCCGTGAAGAAATGGCAGTTCGTGGAGAAACTGCAG    c.600
 C  A  K   | V  A  R  D  Q  A  V  K  K  W  Q  F  V  E  K  L  Q      p.200

          .         .         .        | 07.         .         .    g.11492
 GACTTGGATACTGATTATGGCTCAGGCTACCCCAATG | ATCCCAAGACAAAAGCGTGGTTG    c.660
 D  L  D  T  D  Y  G  S  G  Y  P  N  D |   P  K  T  K  A  W  L      p.220

          .         .         .         .         .         .       g.11552
 AAGGAGCACGTGGAGCCTGTGTTCGGCTTCCCCCAGTTTGTCCGGTTCAGCTGGCGCACG       c.720
 K  E  H  V  E  P  V  F  G  F  P  Q  F  V  R  F  S  W  R  T         p.240

          .         .         .         .  | 08      .         .    g.11733
 GCCCAGACCATCCTGGAGAAAGAGGCGGAAGATGTTATATG | GGAGGACTCAGCATCCGAG    c.780
 A  Q  T  I  L  E  K  E  A  E  D  V  I  W  |  E  D  S  A  S  E      p.260

          .         .         .         .         .         .       g.11793
 AATCAGGAGGGACTCAGGAAGATCACATCCTACTTCCTCAATGAAGGGTCCCAAGCCCGT       c.840
 N  Q  E  G  L  R  K  I  T  S  Y  F  L  N  E  G  S  Q  A  R         p.280

          .         .         .         .         .         .       g.11853
 CCCCGTTCTTCCCACCGATATTTCCTGGAACGCGGCCTGGAGTCAGCAACCAGCCTCTAG       c.900
 P  R  S  S  H  R  Y  F  L  E  R  G  L  E  S  A  T  S  L  X         p.299

          .         .         .         .         .         .       g.11913
 cagctgcctctacgcgctctacctgcttccccaacccagacattaaaattgtttaaggag       c.*60

          .         .         .         .         .         .       g.11973
 aaccacacgtaggggatgtacttttgggacagaagcaaggtgggagtgtgctctgcagcc       c.*120

          .         .         .         .         .         .       g.12033
 gggtccagctacttccttttggaaccttaaatagaatgggtgttggttgattaattttat       c.*180

                                                                    g.12035
 tt                                                                 c.*182

 (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 Ribonuclease H2, subunit A 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.