Canonical Allele Identifier: CA10628507

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 359362
• ClinVar RCV Id: RCV000270721 ; RCV000325840 ; RCV002504177
• dbSNP Id: rs886062106
• gnomAD v2: 7-151574102-C-G
• gnomAD v3: 7-151877017-C-G
• gnomAD v4: 7-151877017-C-G
• MyVariant Identifiers: chr7:g.151574102C>G (hg19) ; chr7:g.151877017C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151877017C>G , CM000669.2:g.151877017C>G	GRCh38
NC_000007.13:g.151574102C>G , CM000669.1:g.151574102C>G	GRCh37
NC_000007.12:g.151205035C>G	NCBI36
NG_007486.1:g.5215G>C
NG_007486.2:g.5215G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652321.2:c.-397G>C	ENSP00000498886.2:n.-397G>C
ENST00000287878.9:c.-397G>C MANE Select	ENSP00000287878.3:n.-397G>C
ENST00000652321.1:c.-397G>C	ENSP00000498886.1:n.-397G>C
ENST00000287878.8:c.-397G>C	ENSP00000287878.3:n.-397G>C
ENST00000481434.5:n.109G>C
NM_016203.3:c.-397G>C	NP_057287.2:n.-397G>C
NM_016203.4:c.-397G>C MANE Select	NP_057287.2:n.-397G>C