Canonical Allele Identifier: CA014610

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 36698
• ClinVar RCV Id: RCV000030377 ; RCV000497723 ; RCV001231512
• dbSNP Id: rs193922697
• COSMIC: COSM1673690 ; COSM1673691
• MyVariant Identifiers: chr7:g.151273524G>T (hg19) ; chr7:g.151576438G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151576438G>T , CM000669.2:g.151576438G>T	GRCh38
NC_000007.13:g.151273524G>T , CM000669.1:g.151273524G>T	GRCh37
NC_000007.12:g.150904457G>T	NCBI36
NG_007486.1:g.305793C>A
NG_007486.2:g.305794C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478989.7:c.153C>A	ENSP00000420645.3:p.Phe51Leu
ENST00000652321.2:c.876C>A	ENSP00000498886.2:p.Phe292Leu
ENST00000287878.9:c.879C>A MANE Select	ENSP00000287878.3:p.Phe293Leu
ENST00000476632.2:c.156C>A	ENSP00000419493.2:p.Phe52Leu
ENST00000491938.6:n.222C>A
ENST00000492843.6:c.504C>A	ENSP00000419577.2:p.Phe168Leu
ENST00000650851.1:n.373C>A
ENST00000650858.1:c.96C>A	ENSP00000498384.1:p.Phe32Leu
ENST00000650948.1:n.994C>A
ENST00000651188.1:c.*119C>A	ENSP00000498557.1:n.*119C>A
ENST00000651290.1:n.81C>A
ENST00000651303.1:c.*198C>A	ENSP00000498428.1:n.*198C>A
ENST00000651378.1:c.156C>A	ENSP00000499103.1:p.Phe52Leu
ENST00000651764.1:c.747C>A	ENSP00000498796.1:p.Phe249Leu
ENST00000651836.1:c.647C>A	ENSP00000499156.1:n.647C>A
ENST00000652047.1:c.744C>A	ENSP00000499111.1:p.Phe248Leu
ENST00000652136.1:n.612C>A
ENST00000652159.1:c.747C>A	ENSP00000499025.1:p.Phe249Leu
ENST00000652397.1:c.156C>A	ENSP00000498351.1:p.Phe52Leu
ENST00000652572.1:n.260C>A
ENST00000287878.8:c.879C>A	ENSP00000287878.3:p.Phe293Leu
ENST00000392801.6:c.747C>A	ENSP00000376549.2:p.Phe249Leu
ENST00000418337.6:c.156C>A	ENSP00000387386.2:p.Phe52Leu
ENST00000476632.1:c.156C>A	ENSP00000419493.1:p.Phe52Leu
ENST00000483775.1:n.284C>A
ENST00000488258.5:c.*119C>A	ENSP00000420783.1:n.*119C>A
ENST00000491938.5:n.225C>A
ENST00000492843.5:c.507C>A	ENSP00000419577.1:p.Phe169Leu
ENST00000493872.5:c.*128C>A	ENSP00000417252.1:n.*128C>A
NM_001040633.1:c.747C>A	NP_001035723.1:p.Phe249Leu
NM_001304527.1:c.504C>A	NP_001291456.1:p.Phe168Leu
NM_001304531.1:c.156C>A	NP_001291460.1:p.Phe52Leu
NM_016203.3:c.879C>A	NP_057287.2:p.Phe293Leu
NM_024429.1:c.156C>A	NP_077747.1:p.Phe52Leu
XM_005250002.2:c.879C>A	XP_005250059.1:p.Phe293Leu
XM_005250004.2:c.747C>A	XP_005250061.1:p.Phe249Leu
XM_005250006.3:c.507C>A	XP_005250063.1:p.Phe169Leu
XM_006716021.2:c.867C>A	XP_006716084.1:p.Phe289Leu
XM_011516282.1:c.864C>A	XP_011514584.1:p.Phe288Leu
XM_011516283.1:c.867C>A	XP_011514585.1:p.Phe289Leu
XM_011516284.1:c.864C>A	XP_011514586.1:p.Phe288Leu
XM_011516285.1:c.156C>A	XP_011514587.1:p.Phe52Leu
XM_011516286.1:c.132C>A	XP_011514588.1:p.Phe44Leu
XM_011516287.1:c.96C>A	XP_011514589.1:p.Phe32Leu
NM_001363698.1:c.507C>A	NP_001350627.1:p.Phe169Leu
XM_005250002.4:c.879C>A	XP_005250059.1:p.Phe293Leu
XM_005250004.4:c.747C>A	XP_005250061.1:p.Phe249Leu
XM_005250006.5:c.507C>A	XP_005250063.1:p.Phe169Leu
XM_011516285.2:c.156C>A	XP_011514587.1:p.Phe52Leu
XM_011516286.2:c.132C>A	XP_011514588.1:p.Phe44Leu
XM_017012268.2:c.744C>A	XP_016867757.1:p.Phe248Leu
XM_017012269.1:c.876C>A	XP_016867758.1:p.Phe292Leu
XM_017012270.1:c.747C>A	XP_016867759.1:p.Phe249Leu
XM_017012271.2:c.744C>A	XP_016867760.1:p.Phe248Leu
XM_017012272.1:c.744C>A	XP_016867761.1:p.Phe248Leu
XM_017012274.2:c.153C>A	XP_016867763.1:p.Phe51Leu
XM_017012275.2:c.96C>A	XP_016867764.1:p.Phe32Leu
XM_017012276.2:c.153C>A	XP_016867765.1:p.Phe51Leu
XM_017012277.2:c.132C>A	XP_016867766.1:p.Phe44Leu
XM_017012278.1:c.96C>A	XP_016867767.1:p.Phe32Leu
XM_017012279.2:c.96C>A	XP_016867768.1:p.Phe32Leu
XM_017012280.2:c.96C>A	XP_016867769.1:p.Phe32Leu
XM_017012281.2:c.96C>A	XP_016867770.1:p.Phe32Leu
XM_024446786.1:c.747C>A	XP_024302554.1:p.Phe249Leu
XM_024446787.1:c.156C>A	XP_024302555.1:p.Phe52Leu
XM_024446788.1:c.153C>A	XP_024302556.1:p.Phe51Leu
XM_024446789.1:c.156C>A	XP_024302557.1:p.Phe52Leu
NM_016203.4:c.879C>A MANE Select	NP_057287.2:p.Phe293Leu
NM_001040633.2:c.747C>A	NP_001035723.1:p.Phe249Leu
NM_001304527.2:c.504C>A	NP_001291456.1:p.Phe168Leu
NM_001304531.2:c.156C>A	NP_001291460.1:p.Phe52Leu
NM_001363698.2:c.507C>A	NP_001350627.1:p.Phe169Leu
NM_024429.2:c.156C>A	NP_077747.1:p.Phe52Leu