Canonical Allele Identifier: CA992470

Gene: GNAT2 GNAI3

Linked Data

• ClinVar Variation Id: 3058780
• ClinVar RCV Id: RCV003979434
• dbSNP Id: rs183147259
• ExAC: 1:110152662 C / G
• gnomAD v2: 1-110152662-C-G
• gnomAD v3: 1-109610040-C-G
• gnomAD v4: 1-109610040-C-G
• MyVariant Identifiers: chr1:g.110152662C>G (hg19) ; chr1:g.109610040C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109610040C>G , CM000663.2:g.109610040C>G	GRCh38
NC_000001.10:g.110152662C>G , CM000663.1:g.110152662C>G	GRCh37
NC_000001.9:g.109954185C>G	NCBI36
NG_009099.1:g.8044G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000351050.8:c.303G>C (GNAT2)	ENSP00000251337.3:p.Ala101=
ENST00000679935.1:c.303G>C (GNAT2) MANE Select	ENSP00000505083.1:p.Ala101=
ENST00000351050.7:c.303G>C (GNAT2)	ENSP00000251337.3:p.Ala101=
ENST00000369851.5:c.*17718C>G (GNAI3)	ENSP00000358867.4:n.*17718C>G
ENST00000622865.1:c.303G>C (GNAT2)	ENSP00000482596.1:p.Ala101=
NM_005272.3:c.303G>C (GNAT2)	NP_005263.1:p.Ala101=
XM_011541264.1:c.303G>C (GNAT2)	XP_011539566.1:p.Ala101=
XM_011541265.1:c.303G>C (GNAT2)	XP_011539567.1:p.Ala101=
XM_011541266.1:c.303G>C (GNAT2)	XP_011539568.1:p.Ala101=
XM_011541264.2:c.303G>C (GNAT2)	XP_011539566.1:p.Ala101=
NM_001377295.1:c.303G>C (GNAT2)	NP_001364224.1:p.Ala101=
NM_005272.5:c.303G>C (GNAT2)	NP_005263.1:p.Ala101=
NM_001377295.2:c.303G>C (GNAT2) MANE Select	NP_001364224.1:p.Ala101=
NM_001379232.1:c.303G>C (GNAT2)	NP_001366161.1:p.Ala101=