NAD(P)H dehydrogenase, quinone 2 (NQO2) - coding DNA reference sequence

(used for variant description)

(last modified June 4, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_000904.3 in the NQO2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000006.11, covering NQO2 transcript NM_000904.3.

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

 (upstream sequence)
                               .         .         .                g.5038
                       gggcggggcctcggcgtggtaggcgcgctgcgtaaaga       c.-301

 .         .         .         .         .         .                g.5098
 ggcctgcagtcccgcggcgcggggcaggttccgggctgcttaggttggcaccggtccgtg       c.-241

 .         .         .         .         .         .                g.5158
 gtccccgggggcgcagtcgcagcgctcccgccctccaggcgtcagcgagtgcgcggtcca       c.-181

 .         .         .         .         .         .                g.5218
 gtgcggccggaacctggcgcaactcctagagcggtccttggggagacgcgggtcccagtc       c.-121

 .         .         .         .     | 02   .         .             g.11660
 ctgcggctcctactggggagtgcgctggtcggaag | attgctggactcgctgaagagagac    c.-61

 .         .         .         .         .         .                g.11720
 tacgcaggaaagccccagccacccatcaaatcagagagaaggaatccaccttcttacgct       c.-1

         | 03.         .         .         .         .         .    g.15245
 ATGGCAG | GTAAGAAAGTACTCATTGTCTATGCACACCAGGAACCCAAGTCTTTCAACGGA    c.60
 M  A  G |   K  K  V  L  I  V  Y  A  H  Q  E  P  K  S  F  N  G      p.20

          .         .         .         .         .         .       g.15305
 TCCTTGAAGAATGTGGCTGTAGATGAACTGAGCAGGCAGGGCTGCACCGTCACAGTGTCT       c.120
 S  L  K  N  V  A  V  D  E  L  S  R  Q  G  C  T  V  T  V  S         p.40

          .         .         .         .         .   | 04     .    g.17719
 GATTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGACAAAGATATCACTG | GTACTCTT    c.180
 D  L  Y  A  M  N  L  E  P  R  A  T  D  K  D  I  T  G |   T  L      p.60

          .         .         .         .         .         .       g.17779
 TCTAATCCTGAGGTTTTCAATTATGGAGTGGAAACCCACGAAGCCTACAAGCAAAGGTCT       c.240
 S  N  P  E  V  F  N  Y  G  V  E  T  H  E  A  Y  K  Q  R  S         p.80

          .         .         .         .         .         .       g.17839
 CTGGCTAGCGACATCACTGATGAGCAGAAAAAGGTTCGGGAGGCTGACCTAGTGATATTT       c.300
 L  A  S  D  I  T  D  E  Q  K  K  V  R  E  A  D  L  V  I  F         p.100

     | 05    .         .         .         .         .         .    g.20754
 CAG | TTCCCGCTGTACTGGTTCAGCGTGCCAGCCATCCTGAAGGGCTGGATGGATAGGGTG    c.360
 Q   | F  P  L  Y  W  F  S  V  P  A  I  L  K  G  W  M  D  R  V      p.120

          .         .         .         .         .        | 06.    g.22054
 CTGTGCCAGGGCTTTGCCTTTGACATCCCAGGATTCTACGATTCCGGTTTGCTCCAG | GGT    c.420
 L  C  Q  G  F  A  F  D  I  P  G  F  Y  D  S  G  L  L  Q   | G      p.140

          .         .         .         .         .         .       g.22114
 AAACTAGCGCTCCTTTCCGTAACCACGGGAGGCACGGCCGAGATGTACACGAAGACAGGA       c.480
 K  L  A  L  L  S  V  T  T  G  G  T  A  E  M  Y  T  K  T  G         p.160

          .         .         .          | 07        .         .    g.24667
 GTCAATGGAGATTCTCGATACTTCCTGTGGCCACTCCAG | CATGGCACATTACACTTCTGT    c.540
 V  N  G  D  S  R  Y  F  L  W  P  L  Q   | H  G  T  L  H  F  C      p.180

          .         .         .         .         .         .       g.24727
 GGATTTAAAGTCCTTGCCCCTCAGATCAGCTTTGCTCCTGAAATTGCATCCGAAGAAGAA       c.600
 G  F  K  V  L  A  P  Q  I  S  F  A  P  E  I  A  S  E  E  E         p.200

          .         .         .         .         .         .       g.24787
 AGAAAGGGGATGGTGGCTGCGTGGTCCCAGAGGCTGCAGACCATCTGGAAGGAAGAGCCC       c.660
 R  K  G  M  V  A  A  W  S  Q  R  L  Q  T  I  W  K  E  E  P         p.220

          .         .         .                                     g.24823
 ATCCCCTGCACAGCCCACTGGCACTTCGGGCAATAA                               c.696
 I  P  C  T  A  H  W  H  F  G  Q  X                                 p.231

          .         .         .         .         .         .       g.24883
 ctctgtggcacgtgggcatcacgtaagcagcacactaggaggcccaggcgcaggcaaaga       c.*60

          .         .         .         .                           g.24928
 gaagatggtgctgtcatgaaataaaattacaacatagctacctgg                      c.*105

 (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 NAD(P)H dehydrogenase, quinone 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.