Canonical Allele Identifier: CA257403
Gene: GNAT2 HGNC NCBI
GNAI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 15922
ClinVar RCV Id: RCV000017273 RCV001386994
dbSNP Id: rs121434585
MyVariant Identifiers: chr1:g.110152730G>A (hg19) chr1:g.109610108G>A (hg38)
PubMed: PMID:12077706
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109610108G>A , CM000663.2:g.109610108G>A GRCh38
NC_000001.10:g.110152730G>A , CM000663.1:g.110152730G>A GRCh37
NC_000001.9:g.109954253G>A NCBI36
NG_009099.1:g.7976C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000351050.8:c.235C>T (GNAT2) ENSP00000251337.3:p.Gln79Ter
ENST00000679935.1:c.235C>T (GNAT2) MANE Select ENSP00000505083.1:p.Gln79Ter
ENST00000351050.7:c.235C>T (GNAT2) ENSP00000251337.3:p.Gln79Ter
ENST00000369851.5:c.*17786G>A (GNAI3) ENSP00000358867.4:n.*17786G>A
ENST00000622865.1:c.235C>T (GNAT2) ENSP00000482596.1:p.Gln79Ter
NM_005272.3:c.235C>T (GNAT2) NP_005263.1:p.Gln79Ter
XM_011541264.1:c.235C>T (GNAT2) XP_011539566.1:p.Gln79Ter
XM_011541265.1:c.235C>T (GNAT2) XP_011539567.1:p.Gln79Ter
XM_011541266.1:c.235C>T (GNAT2) XP_011539568.1:p.Gln79Ter
XM_011541264.2:c.235C>T (GNAT2) XP_011539566.1:p.Gln79Ter
NM_001377295.1:c.235C>T (GNAT2) NP_001364224.1:p.Gln79Ter
NM_005272.5:c.235C>T (GNAT2) NP_005263.1:p.Gln79Ter
NM_001377295.2:c.235C>T (GNAT2) MANE Select NP_001364224.1:p.Gln79Ter
NM_001379232.1:c.235C>T (GNAT2) NP_001366161.1:p.Gln79Ter
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