Canonical Allele Identifier: CA1752702035

Gene: PRKAG2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151576412C= , CM000669.2:g.151576412C=	GRCh38
NC_000007.13:g.151273498C= , CM000669.1:g.151273498C=	GRCh37
NC_000007.12:g.150904431C=	NCBI36
NG_007486.1:g.305819G=
NG_007486.2:g.305820G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.179G=	ENSP00000420645.3:p.Arg60=
ENST00000652321.2:c.902G=	ENSP00000498886.2:p.Arg301=
ENST00000287878.9:c.905G= MANE Select	ENSP00000287878.3:p.Arg302=
ENST00000476632.2:c.182G=	ENSP00000419493.2:p.Arg61=
ENST00000491938.6:n.248G=
ENST00000492843.6:c.530G=	ENSP00000419577.2:p.Arg177=
ENST00000650851.1:n.399G=
ENST00000650858.1:c.122G=	ENSP00000498384.1:p.Arg41=
ENST00000650948.1:n.1020G=
ENST00000651188.1:c.*145G=	ENSP00000498557.1:n.*145G=
ENST00000651290.1:n.107G=
ENST00000651303.1:c.*224G=	ENSP00000498428.1:n.*224G=
ENST00000651378.1:c.182G=	ENSP00000499103.1:p.Arg61=
ENST00000651764.1:c.773G=	ENSP00000498796.1:p.Arg258=
ENST00000651836.1:c.673G=	ENSP00000499156.1:n.673G=
ENST00000652047.1:c.770G=	ENSP00000499111.1:p.Arg257=
ENST00000652136.1:n.638G=
ENST00000652159.1:c.773G=	ENSP00000499025.1:p.Arg258=
ENST00000652397.1:c.182G=	ENSP00000498351.1:p.Arg61=
ENST00000652572.1:n.286G=
ENST00000287878.8:c.905G=	ENSP00000287878.3:p.Arg302=
ENST00000392801.6:c.773G=	ENSP00000376549.2:p.Arg258=
ENST00000418337.6:c.182G=	ENSP00000387386.2:p.Arg61=
ENST00000476632.1:c.182G=	ENSP00000419493.1:p.Arg61=
ENST00000483775.1:n.310G=
ENST00000488258.5:c.*145G=	ENSP00000420783.1:n.*145G=
ENST00000491938.5:n.251G=
ENST00000492843.5:c.533G=	ENSP00000419577.1:p.Arg178=
ENST00000493872.5:c.*154G=	ENSP00000417252.1:n.*154G=
NM_001040633.1:c.773G=	NP_001035723.1:p.Arg258=
NM_001304527.1:c.530G=	NP_001291456.1:p.Arg177=
NM_001304531.1:c.182G=	NP_001291460.1:p.Arg61=
NM_016203.3:c.905G=	NP_057287.2:p.Arg302=
NM_024429.1:c.182G=	NP_077747.1:p.Arg61=
XM_005250002.2:c.905G=	XP_005250059.1:p.Arg302=
XM_005250004.2:c.773G=	XP_005250061.1:p.Arg258=
XM_005250006.3:c.533G=	XP_005250063.1:p.Arg178=
XM_006716021.2:c.893G=	XP_006716084.1:p.Arg298=
XM_011516282.1:c.890G=	XP_011514584.1:p.Arg297=
XM_011516283.1:c.893G=	XP_011514585.1:p.Arg298=
XM_011516284.1:c.890G=	XP_011514586.1:p.Arg297=
XM_011516285.1:c.182G=	XP_011514587.1:p.Arg61=
XM_011516286.1:c.158G=	XP_011514588.1:p.Arg53=
XM_011516287.1:c.122G=	XP_011514589.1:p.Arg41=
NM_001363698.1:c.533G=	NP_001350627.1:p.Arg178=
XM_005250002.4:c.905G=	XP_005250059.1:p.Arg302=
XM_005250004.4:c.773G=	XP_005250061.1:p.Arg258=
XM_005250006.5:c.533G=	XP_005250063.1:p.Arg178=
XM_011516285.2:c.182G=	XP_011514587.1:p.Arg61=
XM_011516286.2:c.158G=	XP_011514588.1:p.Arg53=
XM_017012268.2:c.770G=	XP_016867757.1:p.Arg257=
XM_017012269.1:c.902G=	XP_016867758.1:p.Arg301=
XM_017012270.1:c.773G=	XP_016867759.1:p.Arg258=
XM_017012271.2:c.770G=	XP_016867760.1:p.Arg257=
XM_017012272.1:c.770G=	XP_016867761.1:p.Arg257=
XM_017012274.2:c.179G=	XP_016867763.1:p.Arg60=
XM_017012275.2:c.122G=	XP_016867764.1:p.Arg41=
XM_017012276.2:c.179G=	XP_016867765.1:p.Arg60=
XM_017012277.2:c.158G=	XP_016867766.1:p.Arg53=
XM_017012278.1:c.122G=	XP_016867767.1:p.Arg41=
XM_017012279.2:c.122G=	XP_016867768.1:p.Arg41=
XM_017012280.2:c.122G=	XP_016867769.1:p.Arg41=
XM_017012281.2:c.122G=	XP_016867770.1:p.Arg41=
XM_024446786.1:c.773G=	XP_024302554.1:p.Arg258=
XM_024446787.1:c.182G=	XP_024302555.1:p.Arg61=
XM_024446788.1:c.179G=	XP_024302556.1:p.Arg60=
XM_024446789.1:c.182G=	XP_024302557.1:p.Arg61=
NM_016203.4:c.905G= MANE Select	NP_057287.2:p.Arg302=
NM_001040633.2:c.773G=	NP_001035723.1:p.Arg258=
NM_001304527.2:c.530G=	NP_001291456.1:p.Arg177=
NM_001304531.2:c.182G=	NP_001291460.1:p.Arg61=
NM_001363698.2:c.533G=	NP_001350627.1:p.Arg178=
NM_024429.2:c.182G=	NP_077747.1:p.Arg61=