Canonical Allele Identifier: CA10625540

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 359354
• ClinVar RCV Id: RCV000314775 ; RCV000354416 ; RCV001540580
• dbSNP Id: rs76351165
• gnomAD v2: 7-151573795-C-A
• gnomAD v3: 7-151876710-C-A
• gnomAD v4: 7-151876710-C-A
• MyVariant Identifiers: chr7:g.151573795C>A (hg19) ; chr7:g.151876710C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151876710C>A , CM000669.2:g.151876710C>A	GRCh38
NC_000007.13:g.151573795C>A , CM000669.1:g.151573795C>A	GRCh37
NC_000007.12:g.151204728C>A	NCBI36
NG_007486.1:g.5522G>T
NG_007486.2:g.5522G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000652321.2:c.-90G>T	ENSP00000498886.2:n.-90G>T
ENST00000287878.9:c.-90G>T MANE Select	ENSP00000287878.3:n.-90G>T
ENST00000652321.1:c.-90G>T	ENSP00000498886.1:n.-90G>T
ENST00000287878.8:c.-90G>T	ENSP00000287878.3:n.-90G>T
ENST00000474383.1:n.79G>T
ENST00000481434.5:n.416G>T
ENST00000488258.5:c.-90G>T	ENSP00000420783.1:n.-90G>T
NM_016203.3:c.-90G>T	NP_057287.2:n.-90G>T
XM_005250002.2:c.-90G>T	XP_005250059.1:n.-90G>T
XM_011516287.1:c.-803G>T	XP_011514589.1:n.-803G>T
XM_005250002.4:c.-90G>T	XP_005250059.1:n.-90G>T
XM_017012269.1:c.-90G>T	XP_016867758.1:n.-90G>T
XM_017012278.1:c.-803G>T	XP_016867767.1:n.-803G>T
NM_016203.4:c.-90G>T MANE Select	NP_057287.2:n.-90G>T