Canonical Allele Identifier: CA992425

Gene: GNAT2 GNAI3

Linked Data

• dbSNP Id: rs770564093
• ExAC: 1:110151250 T / C
• gnomAD v2: 1-110151250-T-C
• gnomAD v3: 1-109608628-T-C
• gnomAD v4: 1-109608628-T-C
• MyVariant Identifiers: chr1:g.110151250T>C (hg19) ; chr1:g.109608628T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109608628T>C , CM000663.2:g.109608628T>C	GRCh38
NC_000001.10:g.110151250T>C , CM000663.1:g.110151250T>C	GRCh37
NC_000001.9:g.109952773T>C	NCBI36
NG_009099.1:g.9456A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000351050.8:c.461+3A>G (GNAT2)	ENSP00000251337.3:n.461+3A>G
ENST00000679935.1:c.461+3A>G (GNAT2) MANE Select	ENSP00000505083.1:n.461+3A>G
ENST00000351050.7:c.461+3A>G (GNAT2)	ENSP00000251337.3:n.461+3A>G
ENST00000369851.5:c.*16306T>C (GNAI3)	ENSP00000358867.4:n.*16306T>C
NM_005272.3:c.461+3A>G (GNAT2)	NP_005263.1:n.461+3A>G
XM_011541264.1:c.461+3A>G (GNAT2)	XP_011539566.1:n.461+3A>G
XM_011541265.1:c.461+3A>G (GNAT2)	XP_011539567.1:n.461+3A>G
XM_011541266.1:c.461+3A>G (GNAT2)	XP_011539568.1:n.461+3A>G
XM_011541264.2:c.461+3A>G (GNAT2)	XP_011539566.1:n.461+3A>G
NM_001377295.1:c.461+3A>G (GNAT2)	NP_001364224.1:n.461+3A>G
NM_005272.5:c.461+3A>G (GNAT2)	NP_005263.1:n.461+3A>G
NM_001377295.2:c.461+3A>G (GNAT2) MANE Select	NP_001364224.1:n.461+3A>G
NM_001379232.1:c.461+3A>G (GNAT2)	NP_001366161.1:n.461+3A>G