Canonical Allele Identifier: CA370070878

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 1377664
• ClinVar RCV Id: RCV001912309
• dbSNP Id: rs2150995495
• MyVariant Identifiers: chr7:g.151262813A>T (hg19) ; chr7:g.151565727A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151565727A>T , CM000669.2:g.151565727A>T	GRCh38
NC_000007.13:g.151262813A>T , CM000669.1:g.151262813A>T	GRCh37
NC_000007.12:g.150893746A>T	NCBI36
NG_007486.1:g.316504T>A
NG_007486.2:g.316505T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.*128T>A	ENSP00000420645.3:n.*128T>A
ENST00000652321.2:c.1389T>A	ENSP00000498886.2:p.Asp463Glu
ENST00000287878.9:c.1392T>A MANE Select	ENSP00000287878.3:p.Asp464Glu
ENST00000476632.2:c.669T>A	ENSP00000419493.2:p.Asp223Glu
ENST00000478989.6:c.493T>A
ENST00000492843.6:c.1017T>A	ENSP00000419577.2:p.Asp339Glu
ENST00000650851.1:n.886T>A
ENST00000650858.1:c.609T>A	ENSP00000498384.1:p.Asp203Glu
ENST00000650948.1:n.2321T>A
ENST00000651188.1:c.*505T>A	ENSP00000498557.1:n.*505T>A
ENST00000651303.1:c.*711T>A	ENSP00000498428.1:n.*711T>A
ENST00000651378.1:c.669T>A	ENSP00000499103.1:p.Asp223Glu
ENST00000651764.1:c.1260T>A	ENSP00000498796.1:p.Asp420Glu
ENST00000651836.1:c.1246T>A	ENSP00000499156.1:n.1246T>A
ENST00000651954.1:n.1608T>A
ENST00000652047.1:c.1257T>A	ENSP00000499111.1:p.Asp419Glu
ENST00000652136.1:n.1939T>A
ENST00000652159.1:c.1260T>A	ENSP00000499025.1:p.Asp420Glu
ENST00000652397.1:c.*128T>A	ENSP00000498351.1:n.*128T>A
ENST00000287878.8:c.1392T>A	ENSP00000287878.3:p.Asp464Glu
ENST00000392801.6:c.1260T>A	ENSP00000376549.2:p.Asp420Glu
ENST00000418337.6:c.669T>A	ENSP00000387386.2:p.Asp223Glu
ENST00000478989.5:c.*128T>A	ENSP00000420645.1:n.*128T>A
ENST00000492843.5:c.1020T>A	ENSP00000419577.1:p.Asp340Glu
NM_001040633.1:c.1260T>A	NP_001035723.1:p.Asp420Glu
NM_001304527.1:c.1017T>A	NP_001291456.1:p.Asp339Glu
NM_001304531.1:c.669T>A	NP_001291460.1:p.Asp223Glu
NM_016203.3:c.1392T>A	NP_057287.2:p.Asp464Glu
NM_024429.1:c.669T>A	NP_077747.1:p.Asp223Glu
XM_005250002.2:c.1392T>A	XP_005250059.1:p.Asp464Glu
XM_005250004.2:c.1260T>A	XP_005250061.1:p.Asp420Glu
XM_005250006.3:c.1020T>A	XP_005250063.1:p.Asp340Glu
XM_006716021.2:c.1380T>A	XP_006716084.1:p.Asp460Glu
XM_011516282.1:c.1377T>A	XP_011514584.1:p.Asp459Glu
XM_011516283.1:c.1380T>A	XP_011514585.1:p.Asp460Glu
XM_011516284.1:c.1377T>A	XP_011514586.1:p.Asp459Glu
XM_011516285.1:c.669T>A	XP_011514587.1:p.Asp223Glu
XM_011516286.1:c.645T>A	XP_011514588.1:p.Asp215Glu
XM_011516287.1:c.609T>A	XP_011514589.1:p.Asp203Glu
NM_001363698.1:c.1020T>A	NP_001350627.1:p.Asp340Glu
XM_005250002.4:c.1392T>A	XP_005250059.1:p.Asp464Glu
XM_005250004.4:c.1260T>A	XP_005250061.1:p.Asp420Glu
XM_005250006.5:c.1020T>A	XP_005250063.1:p.Asp340Glu
XM_011516285.2:c.669T>A	XP_011514587.1:p.Asp223Glu
XM_011516286.2:c.645T>A	XP_011514588.1:p.Asp215Glu
XM_017012268.2:c.1257T>A	XP_016867757.1:p.Asp419Glu
XM_017012269.1:c.1389T>A	XP_016867758.1:p.Asp463Glu
XM_017012270.1:c.1260T>A	XP_016867759.1:p.Asp420Glu
XM_017012271.2:c.1257T>A	XP_016867760.1:p.Asp419Glu
XM_017012272.1:c.1257T>A	XP_016867761.1:p.Asp419Glu
XM_017012274.2:c.666T>A	XP_016867763.1:p.Asp222Glu
XM_017012275.2:c.609T>A	XP_016867764.1:p.Asp203Glu
XM_017012276.2:c.666T>A	XP_016867765.1:p.Asp222Glu
XM_017012277.2:c.645T>A	XP_016867766.1:p.Asp215Glu
XM_017012278.1:c.609T>A	XP_016867767.1:p.Asp203Glu
XM_017012279.2:c.609T>A	XP_016867768.1:p.Asp203Glu
XM_017012280.2:c.609T>A	XP_016867769.1:p.Asp203Glu
XM_017012281.2:c.609T>A	XP_016867770.1:p.Asp203Glu
XM_024446786.1:c.1260T>A	XP_024302554.1:p.Asp420Glu
XM_024446787.1:c.669T>A	XP_024302555.1:p.Asp223Glu
XM_024446788.1:c.666T>A	XP_024302556.1:p.Asp222Glu
XM_024446789.1:c.669T>A	XP_024302557.1:p.Asp223Glu
NM_016203.4:c.1392T>A MANE Select	NP_057287.2:p.Asp464Glu
NM_001040633.2:c.1260T>A	NP_001035723.1:p.Asp420Glu
NM_001304527.2:c.1017T>A	NP_001291456.1:p.Asp339Glu
NM_001304531.2:c.669T>A	NP_001291460.1:p.Asp223Glu
NM_001363698.2:c.1020T>A	NP_001350627.1:p.Asp340Glu
NM_024429.2:c.669T>A	NP_077747.1:p.Asp223Glu