Canonical Allele Identifier: CA370072202

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 1198481
• ClinVar RCV Id: RCV001562655 ; RCV001859398
• dbSNP Id: rs727504707
• gnomAD v4: 7-151572709-C-A
• MyVariant Identifiers: chr7:g.151269795C>A (hg19) ; chr7:g.151572709C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151572709C>A , CM000669.2:g.151572709C>A	GRCh38
NC_000007.13:g.151269795C>A , CM000669.1:g.151269795C>A	GRCh37
NC_000007.12:g.150900728C>A	NCBI36
NG_007486.1:g.309522G>T
NG_007486.2:g.309523G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.280G>T	ENSP00000420645.3:p.Val94Leu
ENST00000652321.2:c.1003G>T	ENSP00000498886.2:p.Val335Leu
ENST00000287878.9:c.1006G>T MANE Select	ENSP00000287878.3:p.Val336Leu
ENST00000476632.2:c.283G>T	ENSP00000419493.2:p.Val95Leu
ENST00000478989.6:c.66G>T
ENST00000491938.6:n.349G>T
ENST00000492843.6:c.631G>T	ENSP00000419577.2:p.Val211Leu
ENST00000650851.1:n.500G>T
ENST00000650858.1:c.223G>T	ENSP00000498384.1:p.Val75Leu
ENST00000650948.1:n.1121G>T
ENST00000651188.1:c.*246G>T	ENSP00000498557.1:n.*246G>T
ENST00000651290.1:n.149G>T
ENST00000651303.1:c.*325G>T	ENSP00000498428.1:n.*325G>T
ENST00000651378.1:c.283G>T	ENSP00000499103.1:p.Val95Leu
ENST00000651764.1:c.874G>T	ENSP00000498796.1:p.Val292Leu
ENST00000651836.1:c.774G>T	ENSP00000499156.1:n.774G>T
ENST00000652047.1:c.871G>T	ENSP00000499111.1:p.Val291Leu
ENST00000652136.1:n.739G>T
ENST00000652159.1:c.874G>T	ENSP00000499025.1:p.Val292Leu
ENST00000652397.1:c.283G>T	ENSP00000498351.1:p.Val95Leu
ENST00000287878.8:c.1006G>T	ENSP00000287878.3:p.Val336Leu
ENST00000392801.6:c.874G>T	ENSP00000376549.2:p.Val292Leu
ENST00000418337.6:c.283G>T	ENSP00000387386.2:p.Val95Leu
ENST00000476632.1:c.283G>T	ENSP00000419493.1:p.Val95Leu
ENST00000478989.5:c.58G>T	ENSP00000420645.1:p.Val20Leu
ENST00000488258.5:c.*246G>T	ENSP00000420783.1:n.*246G>T
ENST00000491938.5:n.352G>T
ENST00000492843.5:c.634G>T	ENSP00000419577.1:p.Val212Leu
ENST00000493872.5:c.*255G>T	ENSP00000417252.1:n.*255G>T
NM_001040633.1:c.874G>T	NP_001035723.1:p.Val292Leu
NM_001304527.1:c.631G>T	NP_001291456.1:p.Val211Leu
NM_001304531.1:c.283G>T	NP_001291460.1:p.Val95Leu
NM_016203.3:c.1006G>T	NP_057287.2:p.Val336Leu
NM_024429.1:c.283G>T	NP_077747.1:p.Val95Leu
XM_005250002.2:c.1006G>T	XP_005250059.1:p.Val336Leu
XM_005250004.2:c.874G>T	XP_005250061.1:p.Val292Leu
XM_005250006.3:c.634G>T	XP_005250063.1:p.Val212Leu
XM_006716021.2:c.994G>T	XP_006716084.1:p.Val332Leu
XM_011516282.1:c.991G>T	XP_011514584.1:p.Val331Leu
XM_011516283.1:c.994G>T	XP_011514585.1:p.Val332Leu
XM_011516284.1:c.991G>T	XP_011514586.1:p.Val331Leu
XM_011516285.1:c.283G>T	XP_011514587.1:p.Val95Leu
XM_011516286.1:c.259G>T	XP_011514588.1:p.Val87Leu
XM_011516287.1:c.223G>T	XP_011514589.1:p.Val75Leu
NM_001363698.1:c.634G>T	NP_001350627.1:p.Val212Leu
XM_005250002.4:c.1006G>T	XP_005250059.1:p.Val336Leu
XM_005250004.4:c.874G>T	XP_005250061.1:p.Val292Leu
XM_005250006.5:c.634G>T	XP_005250063.1:p.Val212Leu
XM_011516285.2:c.283G>T	XP_011514587.1:p.Val95Leu
XM_011516286.2:c.259G>T	XP_011514588.1:p.Val87Leu
XM_017012268.2:c.871G>T	XP_016867757.1:p.Val291Leu
XM_017012269.1:c.1003G>T	XP_016867758.1:p.Val335Leu
XM_017012270.1:c.874G>T	XP_016867759.1:p.Val292Leu
XM_017012271.2:c.871G>T	XP_016867760.1:p.Val291Leu
XM_017012272.1:c.871G>T	XP_016867761.1:p.Val291Leu
XM_017012274.2:c.280G>T	XP_016867763.1:p.Val94Leu
XM_017012275.2:c.223G>T	XP_016867764.1:p.Val75Leu
XM_017012276.2:c.280G>T	XP_016867765.1:p.Val94Leu
XM_017012277.2:c.259G>T	XP_016867766.1:p.Val87Leu
XM_017012278.1:c.223G>T	XP_016867767.1:p.Val75Leu
XM_017012279.2:c.223G>T	XP_016867768.1:p.Val75Leu
XM_017012280.2:c.223G>T	XP_016867769.1:p.Val75Leu
XM_017012281.2:c.223G>T	XP_016867770.1:p.Val75Leu
XM_024446786.1:c.874G>T	XP_024302554.1:p.Val292Leu
XM_024446787.1:c.283G>T	XP_024302555.1:p.Val95Leu
XM_024446788.1:c.280G>T	XP_024302556.1:p.Val94Leu
XM_024446789.1:c.283G>T	XP_024302557.1:p.Val95Leu
NM_016203.4:c.1006G>T MANE Select	NP_057287.2:p.Val336Leu
NM_001040633.2:c.874G>T	NP_001035723.1:p.Val292Leu
NM_001304527.2:c.631G>T	NP_001291456.1:p.Val211Leu
NM_001304531.2:c.283G>T	NP_001291460.1:p.Val95Leu
NM_001363698.2:c.634G>T	NP_001350627.1:p.Val212Leu
NM_024429.2:c.283G>T	NP_077747.1:p.Val95Leu