ribonuclease H2, subunit B (RNASEH2B) - coding DNA reference sequence

(used for variant description)

(last modified January 22, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_024570.3 in the RNASEH2B gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009055.1, covering RNASEH2B transcript NM_024570.3.

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

 (upstream sequence)
                               .         .         .                g.4961
                      ccgctggctagaccatggagggccgctgggtgcagccac       c.-361

 .         .         .         .         .         .                g.5021
 agagcgcggggccccggcgaccccgccccgctccgcgtcactcggcgccctgcggcgcgc       c.-301

 .         .         .         .         .         .                g.5081
 gatgagcacctaccactagcggagccgcgagggagaggccgcggccccttcccgttgcct       c.-241

 .         .         .         .         .         .                g.5141
 gcggccaccggccggcattcagagcccctcgcctggcgctaaatttaaaaacgtaacacg       c.-181

 .         .         .         .         .         .                g.5201
 agcagcaggctggtctcggaaacgaaacgaaattcggtccctgggcctcctcccgggcgc       c.-121

 .         .         .         .         .         .                g.5261
 tgccggtccctcagcgcgccgcgccacccggaacagacccttctcccgccattttcggcg       c.-61

 .         .         .         .         .         .                g.5321
 gggctgggagactgaggcccgcggcgctgagcctgcggcgccccggaagaggcgggcggc       c.-1

          .         .         .         .         .         .       g.5381
 ATGGCCGCTGGCGTGGACTGCGGGGACGGGGTTGGCGCCCGGCAGCACGTGTTCCTGGTT       c.60
 M  A  A  G  V  D  C  G  D  G  V  G  A  R  Q  H  V  F  L  V         p.20

      | 02   .         .         .         .         .         .    g.22707
 TCAG | AATATTTAAAAGATGCTTCAAAGAAGATGAAAAATGGGCTAATGTTTGTAAAACTG    c.120
 S  E |   Y  L  K  D  A  S  K  K  M  K  N  G  L  M  F  V  K  L      p.40

          .       | 03 .         .         .         .         .    g.24763
 GTTAACCCCTGTTCAG | GAGAAGGAGCCATTTACTTGTTCAATATGTGTCTACAGCAGCTG    c.180
 V  N  P  C  S  G |   E  G  A  I  Y  L  F  N  M  C  L  Q  Q  L      p.60

          .         .         .         .         .         .       g.24823
 TTTGAAGTAAAAGTTTTCAAGGAAAAACACCATTCTTGGTTTATAAATCAATCAGTTCAA       c.240
 F  E  V  K  V  F  K  E  K  H  H  S  W  F  I  N  Q  S  V  Q         p.80

      | 04   .         .         .         .         .         .    g.25983
 TCAG | GAGGTCTTCTCCATTTTGCCACACCTGTGGATCCTCTATTTCTGCTTCTCCACTAC    c.300
 S  G |   G  L  L  H  F  A  T  P  V  D  P  L  F  L  L  L  H  Y      p.100

          .         .  | 05      .         .         .         .    g.30168
 CTCATAAAGGCTGATAAGGAG | GGGAAGTTTCAGCCCCTTGATCAAGTTGTGGTGGATAAC    c.360
 L  I  K  A  D  K  E   | G  K  F  Q  P  L  D  Q  V  V  V  D  N      p.120

          .         .         .         .         .         .       g.30228
 GTGTTTCCAAATTGCATCTTGTTGCTGAAACTTCCTGGACTTGAGAAGTTACTTCATCAT       c.420
 V  F  P  N  C  I  L  L  L  K  L  P  G  L  E  K  L  L  H  H         p.140

          .       | 06 .         .         .         .         .    g.38609
 GTGACAGAGGAAAAAG | GTAATCCAGAAATAGACAACAAGAAATATTACAAGTACAGCAAA    c.480
 V  T  E  E  K  G |   N  P  E  I  D  N  K  K  Y  Y  K  Y  S  K      p.160

          .         .         . | 07       .         .         .    g.40701
 GAGAAGACATTAAAGTGGCTGGAAAAAAAG | GTTAATCAAACTGTGGCAGCATTAAAAACC    c.540
 E  K  T  L  K  W  L  E  K  K   | V  N  Q  T  V  A  A  L  K  T      p.180

          .         .         .         .         .         .       g.40761
 AATAATGTGAATGTCAGTTCCCGGGTACAGTCAACTGCATTTTTCTCTGGTGACCAAGCT       c.600
 N  N  V  N  V  S  S  R  V  Q  S  T  A  F  F  S  G  D  Q  A         p.200

          .       | 08 .         .         .         .         .    g.43275
 TCCACTGACAAGGAAG | AGGATTATATTCGTTATGCCCATGGTCTGATATCTGACTACATC    c.660
 S  T  D  K  E  E |   D  Y  I  R  Y  A  H  G  L  I  S  D  Y  I      p.220

          .         .         .         | 09         .         .    g.44729
 CCTAAAGAATTAAGTGATGACTTATCTAAATACTTAAA | GCTTCCAGAACCTTCAGCCTCA    c.720
 P  K  E  L  S  D  D  L  S  K  Y  L  K  |  L  P  E  P  S  A  S      p.240

          .         .  | 10      .         .         .         .    g.49188
 TTGCCAAATCCTCCATCAAAG | AAAATAAAGTTATCAGATGAGCCTGTAGAAGCAAAAGAA    c.780
 L  P  N  P  P  S  K   | K  I  K  L  S  D  E  P  V  E  A  K  E      p.260

          .         .         .         .   | 11     .         .    g.51620
 GATTACACTAAGTTTAATACTAAAGATTTGAAGACTGAAAAG | AAAAATAGCAAAATGACT    c.840
 D  Y  T  K  F  N  T  K  D  L  K  T  E  K   | K  N  S  K  M  T      p.280

          .         .         .         .         .         .       g.51680
 GCAGCTCAGAAGGCTTTGGCTAAAGTTGACAAGAGTGGAATGAAAAGTATTGATACCTTT       c.900
 A  A  Q  K  A  L  A  K  V  D  K  S  G  M  K  S  I  D  T  F         p.300

          .         .         .                                     g.51719
 TTTGGGGTAAAAAATAAAAAAAAAATTGGAAAGGTTTGA                            c.939
 F  G  V  K  N  K  K  K  I  G  K  V  X                              p.312

          .         .         .         .         .         .       g.51779
 aactttgaaaataaaatctagcaaaaatatttgctttttacatgtttcagtttgtccttc       c.*60

          .         .         .         .         .         .       g.51839
 ctgactgttaatgactacctttggttgggggaaggaagaggccaatttcatgttctctta       c.*120

          .         .         .         .         .         .       g.51899
 aacatttctttgcatttggtttttgtgttcctgaacaaaatatgggaaagtgtctaactt       c.*180

          .         .         .         .         .         .       g.51959
 catggctatggccttttggagtctcatctgacataatgaaaagtaatcacttgaagagaa       c.*240

          .         .         .         .         .                 g.52010
 ttaacatatagcatcatgattttctcaataaactgatgtgtgacaatgtta                c.*291

 (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 B 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.