Canonical Allele Identifier: CA370072119

Gene: PRKAG2

Linked Data

• gnomAD v4: 7-151572675-T-G
• MyVariant Identifiers: chr7:g.151269761T>G (hg19) ; chr7:g.151572675T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151572675T>G , CM000669.2:g.151572675T>G	GRCh38
NC_000007.13:g.151269761T>G , CM000669.1:g.151269761T>G	GRCh37
NC_000007.12:g.150900694T>G	NCBI36
NG_007486.1:g.309556A>C
NG_007486.2:g.309557A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.314A>C	ENSP00000420645.3:p.Glu105Ala
ENST00000652321.2:c.1037A>C	ENSP00000498886.2:p.Glu346Ala
ENST00000287878.9:c.1040A>C MANE Select	ENSP00000287878.3:p.Glu347Ala
ENST00000476632.2:c.317A>C	ENSP00000419493.2:p.Glu106Ala
ENST00000478989.6:c.100A>C
ENST00000491938.6:n.383A>C
ENST00000492843.6:c.665A>C	ENSP00000419577.2:p.Glu222Ala
ENST00000650851.1:n.534A>C
ENST00000650858.1:c.257A>C	ENSP00000498384.1:p.Glu86Ala
ENST00000650948.1:n.1155A>C
ENST00000651188.1:c.*280A>C	ENSP00000498557.1:n.*280A>C
ENST00000651290.1:n.183A>C
ENST00000651303.1:c.*359A>C	ENSP00000498428.1:n.*359A>C
ENST00000651378.1:c.317A>C	ENSP00000499103.1:p.Glu106Ala
ENST00000651764.1:c.908A>C	ENSP00000498796.1:p.Glu303Ala
ENST00000651836.1:c.808A>C	ENSP00000499156.1:n.808A>C
ENST00000652047.1:c.905A>C	ENSP00000499111.1:p.Glu302Ala
ENST00000652136.1:n.773A>C
ENST00000652159.1:c.908A>C	ENSP00000499025.1:p.Glu303Ala
ENST00000652397.1:c.317A>C	ENSP00000498351.1:p.Glu106Ala
ENST00000287878.8:c.1040A>C	ENSP00000287878.3:p.Glu347Ala
ENST00000392801.6:c.908A>C	ENSP00000376549.2:p.Glu303Ala
ENST00000418337.6:c.317A>C	ENSP00000387386.2:p.Glu106Ala
ENST00000476632.1:c.317A>C	ENSP00000419493.1:p.Glu106Ala
ENST00000478989.5:c.92A>C	ENSP00000420645.1:p.Glu31Ala
ENST00000488258.5:c.*280A>C	ENSP00000420783.1:n.*280A>C
ENST00000491938.5:n.386A>C
ENST00000492843.5:c.668A>C	ENSP00000419577.1:p.Glu223Ala
ENST00000493872.5:c.*289A>C	ENSP00000417252.1:n.*289A>C
NM_001040633.1:c.908A>C	NP_001035723.1:p.Glu303Ala
NM_001304527.1:c.665A>C	NP_001291456.1:p.Glu222Ala
NM_001304531.1:c.317A>C	NP_001291460.1:p.Glu106Ala
NM_016203.3:c.1040A>C	NP_057287.2:p.Glu347Ala
NM_024429.1:c.317A>C	NP_077747.1:p.Glu106Ala
XM_005250002.2:c.1040A>C	XP_005250059.1:p.Glu347Ala
XM_005250004.2:c.908A>C	XP_005250061.1:p.Glu303Ala
XM_005250006.3:c.668A>C	XP_005250063.1:p.Glu223Ala
XM_006716021.2:c.1028A>C	XP_006716084.1:p.Glu343Ala
XM_011516282.1:c.1025A>C	XP_011514584.1:p.Glu342Ala
XM_011516283.1:c.1028A>C	XP_011514585.1:p.Glu343Ala
XM_011516284.1:c.1025A>C	XP_011514586.1:p.Glu342Ala
XM_011516285.1:c.317A>C	XP_011514587.1:p.Glu106Ala
XM_011516286.1:c.293A>C	XP_011514588.1:p.Glu98Ala
XM_011516287.1:c.257A>C	XP_011514589.1:p.Glu86Ala
NM_001363698.1:c.668A>C	NP_001350627.1:p.Glu223Ala
XM_005250002.4:c.1040A>C	XP_005250059.1:p.Glu347Ala
XM_005250004.4:c.908A>C	XP_005250061.1:p.Glu303Ala
XM_005250006.5:c.668A>C	XP_005250063.1:p.Glu223Ala
XM_011516285.2:c.317A>C	XP_011514587.1:p.Glu106Ala
XM_011516286.2:c.293A>C	XP_011514588.1:p.Glu98Ala
XM_017012268.2:c.905A>C	XP_016867757.1:p.Glu302Ala
XM_017012269.1:c.1037A>C	XP_016867758.1:p.Glu346Ala
XM_017012270.1:c.908A>C	XP_016867759.1:p.Glu303Ala
XM_017012271.2:c.905A>C	XP_016867760.1:p.Glu302Ala
XM_017012272.1:c.905A>C	XP_016867761.1:p.Glu302Ala
XM_017012274.2:c.314A>C	XP_016867763.1:p.Glu105Ala
XM_017012275.2:c.257A>C	XP_016867764.1:p.Glu86Ala
XM_017012276.2:c.314A>C	XP_016867765.1:p.Glu105Ala
XM_017012277.2:c.293A>C	XP_016867766.1:p.Glu98Ala
XM_017012278.1:c.257A>C	XP_016867767.1:p.Glu86Ala
XM_017012279.2:c.257A>C	XP_016867768.1:p.Glu86Ala
XM_017012280.2:c.257A>C	XP_016867769.1:p.Glu86Ala
XM_017012281.2:c.257A>C	XP_016867770.1:p.Glu86Ala
XM_024446786.1:c.908A>C	XP_024302554.1:p.Glu303Ala
XM_024446787.1:c.317A>C	XP_024302555.1:p.Glu106Ala
XM_024446788.1:c.314A>C	XP_024302556.1:p.Glu105Ala
XM_024446789.1:c.317A>C	XP_024302557.1:p.Glu106Ala
NM_016203.4:c.1040A>C MANE Select	NP_057287.2:p.Glu347Ala
NM_001040633.2:c.908A>C	NP_001035723.1:p.Glu303Ala
NM_001304527.2:c.665A>C	NP_001291456.1:p.Glu222Ala
NM_001304531.2:c.317A>C	NP_001291460.1:p.Glu106Ala
NM_001363698.2:c.668A>C	NP_001350627.1:p.Glu223Ala
NM_024429.2:c.317A>C	NP_077747.1:p.Glu106Ala