cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6) - coding DNA reference sequence

(used for variant description)

(last modified August 3, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_000762.5 in the CYP2A6 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008377.1, covering CYP2A6 transcript NM_000762.5.

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

 (upstream sequence)
                                         .         .                g.5021
                                        atctatcatcccactaccacc       c.-1

          .         .         .         .         .         .       g.5081
 ATGCTGGCCTCAGGGATGCTTCTGGTGGCCTTGCTGGTCTGCCTGACTGTAATGGTCTTG       c.60
 M  L  A  S  G  M  L  L  V  A  L  L  V  C  L  T  V  M  V  L         p.20

          .         .         .         .         .         .       g.5141
 ATGTCTGTTTGGCAGCAGAGGAAGAGCAAGGGGAAGCTGCCTCCGGGACCCACCCCATTG       c.120
 M  S  V  W  Q  Q  R  K  S  K  G  K  L  P  P  G  P  T  P  L         p.40

          .         .         .         .         .         .       g.5201
 CCCTTCATTGGAAACTACCTGCAGCTGAACACAGAGCAGATGTACAACTCCCTCATGAAG       c.180
 P  F  I  G  N  Y  L  Q  L  N  T  E  Q  M  Y  N  S  L  M  K         p.60

  | 02       .         .         .         .         .         .    g.5527
  | ATCAGTGAGCGCTATGGCCCCGTGTTCACCATTCACTTGGGGCCCCGGCGGGTCGTGGTG    c.240
  | I  S  E  R  Y  G  P  V  F  T  I  H  L  G  P  R  R  V  V  V      p.80

          .         .         .         .         .         .       g.5587
 CTGTGTGGACATGATGCCGTCAGGGAGGCTCTGGTGGACCAGGCTGAGGAGTTCAGCGGG       c.300
 L  C  G  H  D  A  V  R  E  A  L  V  D  Q  A  E  E  F  S  G         p.100

          .         .         .         .    | 03    .         .    g.6701
 CGAGGCGAGCAAGCCACCTTCGACTGGGTCTTCAAAGGCTATG | GCGTGGTATTCAGCAAC    c.360
 R  G  E  Q  A  T  F  D  W  V  F  K  G  Y  G |   V  V  F  S  N      p.120

          .         .         .         .         .         .       g.6761
 GGGGAGCGCGCCAAGCAGCTCCGGCGCTTCTCCATCGCCACCCTGCGGGACTTCGGGGTG       c.420
 G  E  R  A  K  Q  L  R  R  F  S  I  A  T  L  R  D  F  G  V         p.140

          .         .         .         .         .         .       g.6821
 GGCAAGCGAGGCATCGAGGAGCGCATCCAGGAGGAGGCGGGCTTCCTCATCGACGCCCTC       c.480
 G  K  R  G  I  E  E  R  I  Q  E  E  A  G  F  L  I  D  A  L         p.160

          .    | 04    .         .         .         .         .    g.7115
 CGGGGCACTGGCG | GCGCCAATATCGATCCCACCTTCTTCCTGAGCCGCACAGTCTCCAAT    c.540
 R  G  T  G  G |   A  N  I  D  P  T  F  F  L  S  R  T  V  S  N      p.180

          .         .         .         .         .         .       g.7175
 GTCATCAGCTCCATTGTCTTTGGGGACCGCTTTGACTATAAGGACAAAGAGTTCCTGTCA       c.600
 V  I  S  S  I  V  F  G  D  R  F  D  Y  K  D  K  E  F  L  S         p.200

          .         .         .         .         .     | 05   .    g.8402
 CTGTTGCGCATGATGCTAGGAATCTTCCAGTTCACGTCAACCTCCACGGGGCAG | CTCTAT    c.660
 L  L  R  M  M  L  G  I  F  Q  F  T  S  T  S  T  G  Q   | L  Y      p.220

          .         .         .         .         .         .       g.8462
 GAGATGTTCTCTTCGGTGATGAAACACCTGCCAGGACCACAGCAACAGGCCTTTCAGTTG       c.720
 E  M  F  S  S  V  M  K  H  L  P  G  P  Q  Q  Q  A  F  Q  L         p.240

          .         .         .         .         .         .       g.8522
 CTGCAAGGGCTGGAGGACTTCATAGCCAAGAAGGTGGAGCACAACCAGCGCACGCTGGAT       c.780
 L  Q  G  L  E  D  F  I  A  K  K  V  E  H  N  Q  R  T  L  D         p.260

          .         .         .         .         .  | 06      .    g.9359
 CCCAATTCCCCACGGGACTTCATTGACTCCTTTCTCATCCGCATGCAGGAG | GAGGAGAAG    c.840
 P  N  S  P  R  D  F  I  D  S  F  L  I  R  M  Q  E   | E  E  K      p.280

          .         .         .         .         .         .       g.9419
 AACCCCAACACGGAGTTCTACTTGAAAAACCTGGTGATGACCACGTTGAACCTCTTCATT       c.900
 N  P  N  T  E  F  Y  L  K  N  L  V  M  T  T  L  N  L  F  I         p.300

          .         .         .         .         .         .       g.9479
 GGGGGCACCGAGACCGTCAGCACCACCCTGCGCTATGGCTTCTTGCTGCTCATGAAGCAC       c.960
 G  G  T  E  T  V  S  T  T  L  R  Y  G  F  L  L  L  M  K  H         p.320

          .    | 07    .         .         .         .         .    g.10013
 CCAGAGGTGGAGG | CCAAGGTCCATGAGGAGATTGACAGAGTGATCGGCAAGAACCGGCAG    c.1020
 P  E  V  E  A |   K  V  H  E  E  I  D  R  V  I  G  K  N  R  Q      p.340

          .         .         .         .         .         .       g.10073
 CCCAAGTTTGAGGACCGGGCCAAGATGCCCTACATGGAGGCAGTGATCCACGAGATCCAA       c.1080
 P  K  F  E  D  R  A  K  M  P  Y  M  E  A  V  I  H  E  I  Q         p.360

          .         .         .         .         .         .       g.10133
 AGATTTGGAGACGTGATCCCCATGAGTTTGGCCCGCAGAGTCAAAAAGGACACCAAGTTT       c.1140
 R  F  G  D  V  I  P  M  S  L  A  R  R  V  K  K  D  T  K  F         p.380

          .         .  | 08      .         .         .         .    g.10714
 CGGGATTTCTTCCTCCCTAAG | GGCACCGAAGTGTACCCTATGCTGGGCTCTGTGCTGAGA    c.1200
 R  D  F  F  L  P  K   | G  T  E  V  Y  P  M  L  G  S  V  L  R      p.400

          .         .         .         .         .         .       g.10774
 GACCCCAGTTTCTTCTCCAACCCCCAGGACTTCAATCCCCAGCACTTCCTGAATGAGAAG       c.1260
 D  P  S  F  F  S  N  P  Q  D  F  N  P  Q  H  F  L  N  E  K         p.420

          .         .         .         .    | 09    .         .    g.11487
 GGGCAGTTTAAGAAGAGTGATGCTTTTGTGCCCTTTTCCATCG | GAAAGCGGAACTGTTTC    c.1320
 G  Q  F  K  K  S  D  A  F  V  P  F  S  I  G |   K  R  N  C  F      p.440

          .         .         .         .         .         .       g.11547
 GGAGAAGGCCTGGCCAGAATGGAGCTCTTTCTCTTCTTCACCACCGTCATGCAGAACTTC       c.1380
 G  E  G  L  A  R  M  E  L  F  L  F  F  T  T  V  M  Q  N  F         p.460

          .         .         .         .         .         .       g.11607
 CGCCTCAAGTCCTCCCAGTCACCTAAGGACATTGACGTGTCCCCCAAACACGTGGGCTTT       c.1440
 R  L  K  S  S  Q  S  P  K  D  I  D  V  S  P  K  H  V  G  F         p.480

          .         .         .         .                           g.11652
 GCCACGATCCCACGAAACTACACCATGAGCTTCCTGCCCCGCTGA                      c.1485
 A  T  I  P  R  N  Y  T  M  S  F  L  P  R  X                        p.494

          .         .         .         .         .         .       g.11712
 gcgagggctgtgccggtgcaggtctggtgggcggggccagggaaagggcagggccaagac       c.*60

          .         .         .         .         .         .       g.11772
 cgggcttgggagaggggcgcagctaagactgggggcaggatggcggaaaggaaggggcgt       c.*120

          .         .         .         .         .         .       g.11832
 ggtggctagagggaagagaagaaacagaagcggctcagttcaccttgataaggtgcttcc       c.*180

          .         .         .         .         .         .       g.11892
 gagctgggatgagaggaaggaaacccttacattatgctatgaagagtagtaataatagca       c.*240

          .                                                         g.11910
 gctcttatttcctgagca                                                 c.*258

 (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 Cytochrome P450, family 2, subfamily A, polypeptide 6 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.