Canonical Allele Identifier: CA10625543

Gene: PRKAG2 PRKAG2-AS1

Linked Data

• ClinVar Variation Id: 359365
• ClinVar RCV Id: RCV000352884 ; RCV001795991 ; RCV001653720
• dbSNP Id: rs117728810
• gnomAD v2: 7-151574265-G-A
• gnomAD v3: 7-151877180-G-A
• gnomAD v4: 7-151877180-G-A
• MyVariant Identifiers: chr7:g.151574265G>A (hg19) ; chr7:g.151877180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151877180G>A , CM000669.2:g.151877180G>A	GRCh38
NC_000007.13:g.151574265G>A , CM000669.1:g.151574265G>A	GRCh37
NC_000007.12:g.151205198G>A	NCBI36
NG_007486.1:g.5052C>T
NG_007486.2:g.5052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652321.2:c.-560C>T (PRKAG2)	ENSP00000498886.2:n.-560C>T
NM_016203.3:c.-560C>T (PRKAG2)	NP_057287.2:n.-560C>T
NR_038926.1:n.99+40G>A (PRKAG2-AS1)