guanine nucleotide binding protein (G protein), beta polypeptide 2 (GNB2) - coding DNA reference sequence

(used for variant description)

(last modified July 23, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_005273.3 in the GNB2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000007.13, covering GNB2 transcript NM_005273.3.

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

 (upstream sequence)
                               .         .         .                g.5033
                            actggcgggcgggatccctccgctctggggagg       c.-241

 .         .         .         .         .         .                g.5093
 cagcgctggcggcggggctggggccactgaggaaatccatccgcgccgccgccgccgccg       c.-181

 .         .         .         .         .         .                g.5153
 ccgccgccgccgccgccgcctccgccgcggaggaagacagcgccgcccgcgcaccgccag       c.-121

 .         .         .         . | 02       .         .             g.7466
 cgacctccgccgcagagtcccaccgccacag | gcctcgggccagcggccaggagctgcctc    c.-61

 .         .         .         .         .         .                g.7526
 ccccagcccccgtcccgcggcccccagccgcccccaaccctgccccacgggcccggcgcc       c.-1

          .         .         .         .         .        | 03.    g.7798
 ATGAGTGAGCTGGAGCAACTGAGACAGGAGGCCGAGCAGCTCCGGAACCAGATCCGG | GAT    c.60
 M  S  E  L  E  Q  L  R  Q  E  A  E  Q  L  R  N  Q  I  R   | D      p.20

          .         .         .       | 04 .         .         .    g.7977
 GCCCGAAAAGCATGTGGGGACTCAACACTGACCCAG | ATCACAGCTGGGCTGGACCCAGTG    c.120
 A  R  K  A  C  G  D  S  T  L  T  Q   | I  T  A  G  L  D  P  V      p.40

          .         .         .         .         .         .       g.8037
 GGGAGAATCCAGATGAGGACCCGGAGGACCCTCCGTGGGCACCTGGCAAAGATCTATGCC       c.180
 G  R  I  Q  M  R  T  R  R  T  L  R  G  H  L  A  K  I  Y  A         p.60

          .         .    | 05    .         .         .         .    g.8649
 ATGCACTGGGGGACCGACTCAAG | GCTGCTGGTCAGCGCCTCCCAGGATGGGAAGCTCATC    c.240
 M  H  W  G  T  D  S  R  |  L  L  V  S  A  S  Q  D  G  K  L  I      p.80

          .         .        | 06.         .         .         .    g.8791
 ATCTGGGACAGCTACACCACCAACAAG | GTCCACGCCATCCCGCTGCGCTCCTCCTGGGTA    c.300
 I  W  D  S  Y  T  T  N  K   | V  H  A  I  P  L  R  S  S  W  V      p.100

          .         .         .         .         .         .       g.8851
 ATGACCTGTGCCTACGCGCCCTCAGGGAACTTTGTGGCCTGTGGGGGGTTGGACAACATC       c.360
 M  T  C  A  Y  A  P  S  G  N  F  V  A  C  G  G  L  D  N  I         p.120

          .         .         .         .         .         .       g.8911
 TGCTCCATCTACAGCCTCAAGACCCGCGAGGGCAACGTCAGGGTCAGCCGGGAGCTGCCT       c.420
 C  S  I  Y  S  L  K  T  R  E  G  N  V  R  V  S  R  E  L  P         p.140

          . | 07       .         .         .         .         .    g.9062
 GGCCACACTG | GGTACCTGTCGTGTTGCCGCTTCCTGGATGACAACCAAATCATCACCAGC    c.480
 G  H  T  G |   Y  L  S  C  C  R  F  L  D  D  N  Q  I  I  T  S      p.160

          .        | 08.         .         .         .         .    g.9401
 TCTGGGGATACCACCTG | TGCCCTGTGGGACATTGAGACAGGCCAGCAGACAGTGGGTTTT    c.540
 S  G  D  T  T  C  |  A  L  W  D  I  E  T  G  Q  Q  T  V  G  F      p.180

          .         .         .         .         .         .       g.9461
 GCTGGACACAGTGGGGATGTGATGTCCCTGTCCCTGGCCCCCGATGGCCGCACGTTTGTG       c.600
 A  G  H  S  G  D  V  M  S  L  S  L  A  P  D  G  R  T  F  V         p.200

          .         .         .         .         .         .       g.9521
 TCAGGCGCCTGTGATGCCTCTATCAAGCTGTGGGACGTGCGGGATTCCATGTGCCGACAG       c.660
 S  G  A  C  D  A  S  I  K  L  W  D  V  R  D  S  M  C  R  Q         p.220

          .         .         .          | 09        .         .    g.9679
 ACCTTCATCGGCCATGAATCCGACATCAATGCAGTGGCT | TTCTTCCCCAACGGCTACGCC    c.720
 T  F  I  G  H  E  S  D  I  N  A  V  A   | F  F  P  N  G  Y  A      p.240

          .         .         .         .         .         .       g.9739
 TTCACCACCGGCTCTGACGACGCCACGTGCCGCCTCTTCGACCTGCGGGCCGATCAGGAG       c.780
 F  T  T  G  S  D  D  A  T  C  R  L  F  D  L  R  A  D  Q  E         p.260

          .         .         .         .         .         .       g.9799
 CTCCTCATGTACTCCCATGACAACATCATCTGTGGCATCACCTCTGTTGCCTTCTCGCGC       c.840
 L  L  M  Y  S  H  D  N  I  I  C  G  I  T  S  V  A  F  S  R         p.280

          .         .         .         .         .         .       g.9859
 AGCGGACGGCTGCTGCTCGCTGGCTACGACGACTTCAACTGCAACATCTGGGATGCCATG       c.900
 S  G  R  L  L  L  A  G  Y  D  D  F  N  C  N  I  W  D  A  M         p.300

          .       | 10 .         .         .         .         .    g.9999
 AAGGGCGACCGTGCAG | GAGTCCTCGCTGGCCACGACAACCGCGTGAGCTGCCTCGGGGTC    c.960
 K  G  D  R  A  G |   V  L  A  G  H  D  N  R  V  S  C  L  G  V      p.320

          .         .         .         .         .         .       g.10059
 ACCGACGATGGCATGGCTGTGGCCACGGGCTCCTGGGACTCCTTCCTCAAGATCTGGAAC       c.1020
 T  D  D  G  M  A  V  A  T  G  S  W  D  S  F  L  K  I  W  N         p.340

                                                                    g.10062
 TAA                                                                c.1023
 X                                                                  p.340

          .         .         .         .         .         .       g.10122
 tggccccacccccactgggcccaggccaggaggggccctgcccatgcccacactacaggc       c.*60

          .         .         .         .         .         .       g.10182
 cagggctgcggggctggcgcaatcccagcccccttccccgggccacggggccttgggtcc       c.*120

          .         .         .         .         .         .       g.10242
 ctgccctcccacccaggtttggttcctcccggggcccccactgtggagataagaagggga       c.*180

          .         .         .         .         .         .       g.10302
 tggaatgggggaagaggaggagcaggaggccctcatccttctgctgccctggggttgggg       c.*240

          .         .         .         .         .         .       g.10362
 cctcacccctctggagggccggaggcaggaggtggaaaccccaggggctggcttttttaa       c.*300

          .         .         .         .         .         .       g.10422
 aactggttttattttaatttttattatattttcagtttttccataaaggagccaattcca       c.*360

                                                                    g.10430
 actctgta                                                           c.*368

 (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), beta 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.