Canonical Allele Identifier: CA10628594

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 359359
• ClinVar RCV Id: RCV000298730 ; RCV000334961 ; RCV001576050
• dbSNP Id: rs75059373
• gnomAD v2: 7-151573992-G-C
• gnomAD v3: 7-151876907-G-C
• gnomAD v4: 7-151876907-G-C
• MyVariant Identifiers: chr7:g.151573992G>C (hg19) ; chr7:g.151876907G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151876907G>C , CM000669.2:g.151876907G>C	GRCh38
NC_000007.13:g.151573992G>C , CM000669.1:g.151573992G>C	GRCh37
NC_000007.12:g.151204925G>C	NCBI36
NG_007486.1:g.5325C>G
NG_007486.2:g.5325C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652321.2:c.-287C>G	ENSP00000498886.2:n.-287C>G
ENST00000287878.9:c.-287C>G MANE Select	ENSP00000287878.3:n.-287C>G
ENST00000652321.1:c.-287C>G	ENSP00000498886.1:n.-287C>G
ENST00000287878.8:c.-287C>G	ENSP00000287878.3:n.-287C>G
ENST00000481434.5:n.219C>G
NM_016203.3:c.-287C>G	NP_057287.2:n.-287C>G
NM_016203.4:c.-287C>G MANE Select	NP_057287.2:n.-287C>G