guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2) - coding DNA reference sequence

(used for variant description)

(last modified October 24, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_005272.3 in the GNAT2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009099.1, covering GNAT2 transcript NM_005272.3.

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

 (upstream sequence)
                               .         .         .                g.5033
                            gtaggtctccagttgaagtagggagtctcagtc       c.-181

 .         .         .         .         .         .                g.5093
 aatgtaggcagagtacaagaccctacagcctgctctctcacctgccatcgtacagaccag       c.-121

 .         .         .         .         .         .                g.5153
 cttttaggggagccaagttgggatactcaatcccaacttttttccttctcttccatctca       c.-61

 .         .         .         .         .         .                g.5213
 catacaggaaaccttacgagagaggattaggggcctgaaaaagctgacaagacggcaaat       c.-1

          .         .         .         .         .         .       g.5273
 ATGGGAAGTGGAGCCAGTGCTGAGGACAAAGAACTGGCCAAGAGGTCCAAGGAGCTAGAA       c.60
 M  G  S  G  A  S  A  E  D  K  E  L  A  K  R  S  K  E  L  E         p.20

          .         .         .         .         .         | 02    g.7578
 AAGAAGCTGCAGGAGGATGCTGATAAGGAAGCCAAGACTGTCAAGCTGCTACTGCTGG | GT    c.120
 K  K  L  Q  E  D  A  D  K  E  A  K  T  V  K  L  L  L  L  G |       p.40

          .         .         .         .  | 03      .         .    g.7921
 GCTGGGGAGTCAGGAAAGAGCACCATCGTCAAACAGATGAA | GATCATTCACCAGGATGGC    c.180
 A  G  E  S  G  K  S  T  I  V  K  Q  M  K  |  I  I  H  Q  D  G      p.60

          .         .         .         .         .         .       g.7981
 TATTCACCAGAAGAATGCCTGGAGTTCAAGGCTATCATCTATGGAAATGTGCTGCAGTCC       c.240
 Y  S  P  E  E  C  L  E  F  K  A  I  I  Y  G  N  V  L  Q  S         p.80

          .         .         .         .         .         .       g.8041
 ATCCTGGCTATCATCCGGGCCATGACCACACTGGGCATCGATTATGCTGAACCAAGCTGT       c.300
 I  L  A  I  I  R  A  M  T  T  L  G  I  D  Y  A  E  P  S  C         p.100

     | 04    .         .         .         .         .         .    g.9352
 GCG | GATGACGGGCGACAGCTCAACAACCTGGCTGACTCCATTGAGGAGGGAACCATGCCT    c.360
 A   | D  D  G  R  Q  L  N  N  L  A  D  S  I  E  E  G  T  M  P      p.120

          .         .         .         .         .         .       g.9412
 CCTGAGCTCGTGGAGGTCATTAGGAGGTTGTGGAAGGATGGTGGGGTGCAAGCCTGCTTC       c.420
 P  E  L  V  E  V  I  R  R  L  W  K  D  G  G  V  Q  A  C  F         p.140

          .         .         .         .  | 05      .         .    g.11666
 GAGAGAGCTGCAGAATACCAGCTTAATGACTCCGCATCTTA | CTACCTGAACCAATTAGAA    c.480
 E  R  A  A  E  Y  Q  L  N  D  S  A  S  Y  |  Y  L  N  Q  L  E      p.160

          .         .         .         .         .         .       g.11726
 CGAATTACAGACCCTGAGTACCTCCCTAGTGAGCAAGATGTGCTCCGATCCAGAGTCAAA       c.540
 R  I  T  D  P  E  Y  L  P  S  E  Q  D  V  L  R  S  R  V  K         p.180

          .         .         .         .         . | 06       .    g.11994
 ACCACGGGCATCATTGAAACCAAGTTTTCCGTCAAAGACTTGAATTTCAG | GATGTTTGAT    c.600
 T  T  G  I  I  E  T  K  F  S  V  K  D  L  N  F  R  |  M  F  D      p.200

          .         .         .         .         .         .       g.12054
 GTGGGAGGGCAGAGATCCGAGAGAAAGAAGTGGATCCACTGCTTCGAGGGAGTCACCTGC       c.660
 V  G  G  Q  R  S  E  R  K  K  W  I  H  C  F  E  G  V  T  C         p.220

          .         .         .         .         .         .       g.12114
 ATCATTTTCTGTGCAGCCCTCAGTGCCTATGATATGGTGCTGGTGGAAGATGACGAAGTG       c.720
 I  I  F  C  A  A  L  S  A  Y  D  M  V  L  V  E  D  D  E  V         p.240

  | 07       .         .         .         .         .         .    g.14039
  | AATCGTATGCATGAGTCTTTGCATCTGTTCAACAGCATATGTAACCACAAATTCTTTGCG    c.780
  | N  R  M  H  E  S  L  H  L  F  N  S  I  C  N  H  K  F  F  A      p.260

          .         .         .         .         .         .       g.14099
 GCTACTTCCATTGTCCTCTTTCTCAACAAGAAGGACCTCTTTGAGGAAAAAATCAAGAAA       c.840
 A  T  S  I  V  L  F  L  N  K  K  D  L  F  E  E  K  I  K  K         p.280

          .         .         .     | 08   .         .         .    g.14565
 GTCCATCTCAGCATTTGTTTTCCAGAGTATGATG | GTAACAACTCCTATGATGATGCGGGG    c.900
 V  H  L  S  I  C  F  P  E  Y  D  G |   N  N  S  Y  D  D  A  G      p.300

          .         .         .         .         .         .       g.14625
 AATTACATAAAGAGCCAGTTCCTTGACCTCAATATGCGAAAAGATGTCAAAGAAATCTAC       c.960
 N  Y  I  K  S  Q  F  L  D  L  N  M  R  K  D  V  K  E  I  Y         p.320

          .         .         .         .         .         .       g.14685
 AGTCACATGACCTGTGCTACAGATACACAGAATGTCAAATTTGTGTTTGATGCAGTTACA       c.1020
 S  H  M  T  C  A  T  D  T  Q  N  V  K  F  V  F  D  A  V  T         p.340

          .         .         .         .                           g.14730
 GATATTATCATCAAAGAAAACCTCAAGGACTGCGGCCTCTTCTAA                      c.1065
 D  I  I  I  K  E  N  L  K  D  C  G  L  F  X                        p.354

          .         .         .         .         .         .       g.14790
 tcctcaccattcctcaggtataagttctataaacaggcttggaatctgggtaattaaaaa       c.*60

          .         .                                               g.14817
 cagaaaattatagtcaatataccatga                                        c.*87

 (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 Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 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.