Canonical Allele Identifier: CA1752719425

Gene: PRKAG2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151564183C= , CM000669.2:g.151564183C=	GRCh38
NC_000007.13:g.151261269C= , CM000669.1:g.151261269C=	GRCh37
NC_000007.12:g.150892202C=	NCBI36
NG_007486.1:g.318048G=
NG_007486.2:g.318049G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.*215G=	ENSP00000420645.3:n.*215G=
ENST00000652321.2:c.1476G=	ENSP00000498886.2:p.Thr492=
ENST00000287878.9:c.1479G= MANE Select	ENSP00000287878.3:p.Thr493=
ENST00000476632.2:c.756G=	ENSP00000419493.2:p.Thr252=
ENST00000492843.6:c.1104G=	ENSP00000419577.2:p.Thr368=
ENST00000650851.1:n.973G=
ENST00000650858.1:c.696G=	ENSP00000498384.1:p.Thr232=
ENST00000650948.1:n.3865G=
ENST00000651188.1:c.*592G=	ENSP00000498557.1:n.*592G=
ENST00000651303.1:c.*798G=	ENSP00000498428.1:n.*798G=
ENST00000651378.1:c.756G=	ENSP00000499103.1:p.Thr252=
ENST00000651764.1:c.1347G=	ENSP00000498796.1:p.Thr449=
ENST00000651836.1:c.1669G=	ENSP00000499156.1:n.1669G=
ENST00000651954.1:n.1695G=
ENST00000652047.1:c.1344G=	ENSP00000499111.1:p.Thr448=
ENST00000652136.1:n.2026G=
ENST00000652159.1:c.1347G=	ENSP00000499025.1:p.Thr449=
ENST00000652397.1:c.*215G=	ENSP00000498351.1:n.*215G=
ENST00000287878.8:c.1479G=	ENSP00000287878.3:p.Thr493=
ENST00000392801.6:c.1347G=	ENSP00000376549.2:p.Thr449=
ENST00000418337.6:c.756G=	ENSP00000387386.2:p.Thr252=
ENST00000479461.1:n.131G=
ENST00000485183.1:n.132G=
ENST00000492843.5:c.1107G=	ENSP00000419577.1:p.Thr369=
NM_001040633.1:c.1347G=	NP_001035723.1:p.Thr449=
NM_001304527.1:c.1104G=	NP_001291456.1:p.Thr368=
NM_001304531.1:c.756G=	NP_001291460.1:p.Thr252=
NM_016203.3:c.1479G=	NP_057287.2:p.Thr493=
NM_024429.1:c.756G=	NP_077747.1:p.Thr252=
XM_005250002.2:c.1479G=	XP_005250059.1:p.Thr493=
XM_005250004.2:c.1347G=	XP_005250061.1:p.Thr449=
XM_005250006.3:c.1107G=	XP_005250063.1:p.Thr369=
XM_006716021.2:c.1467G=	XP_006716084.1:p.Thr489=
XM_011516282.1:c.1464G=	XP_011514584.1:p.Thr488=
XM_011516283.1:c.1467G=	XP_011514585.1:p.Thr489=
XM_011516284.1:c.1464G=	XP_011514586.1:p.Thr488=
XM_011516285.1:c.756G=	XP_011514587.1:p.Thr252=
XM_011516286.1:c.732G=	XP_011514588.1:p.Thr244=
XM_011516287.1:c.696G=	XP_011514589.1:p.Thr232=
NM_001363698.1:c.1107G=	NP_001350627.1:p.Thr369=
XM_005250002.4:c.1479G=	XP_005250059.1:p.Thr493=
XM_005250004.4:c.1347G=	XP_005250061.1:p.Thr449=
XM_005250006.5:c.1107G=	XP_005250063.1:p.Thr369=
XM_011516285.2:c.756G=	XP_011514587.1:p.Thr252=
XM_011516286.2:c.732G=	XP_011514588.1:p.Thr244=
XM_017012268.2:c.1344G=	XP_016867757.1:p.Thr448=
XM_017012269.1:c.1476G=	XP_016867758.1:p.Thr492=
XM_017012270.1:c.1347G=	XP_016867759.1:p.Thr449=
XM_017012271.2:c.1344G=	XP_016867760.1:p.Thr448=
XM_017012272.1:c.1344G=	XP_016867761.1:p.Thr448=
XM_017012274.2:c.753G=	XP_016867763.1:p.Thr251=
XM_017012275.2:c.696G=	XP_016867764.1:p.Thr232=
XM_017012276.2:c.753G=	XP_016867765.1:p.Thr251=
XM_017012277.2:c.732G=	XP_016867766.1:p.Thr244=
XM_017012278.1:c.696G=	XP_016867767.1:p.Thr232=
XM_017012279.2:c.696G=	XP_016867768.1:p.Thr232=
XM_017012280.2:c.696G=	XP_016867769.1:p.Thr232=
XM_017012281.2:c.696G=	XP_016867770.1:p.Thr232=
XM_024446786.1:c.1347G=	XP_024302554.1:p.Thr449=
XM_024446787.1:c.756G=	XP_024302555.1:p.Thr252=
XM_024446788.1:c.753G=	XP_024302556.1:p.Thr251=
XM_024446789.1:c.756G=	XP_024302557.1:p.Thr252=
NM_016203.4:c.1479G= MANE Select	NP_057287.2:p.Thr493=
NM_001040633.2:c.1347G=	NP_001035723.1:p.Thr449=
NM_001304527.2:c.1104G=	NP_001291456.1:p.Thr368=
NM_001304531.2:c.756G=	NP_001291460.1:p.Thr252=
NM_001363698.2:c.1107G=	NP_001350627.1:p.Thr369=
NM_024429.2:c.756G=	NP_077747.1:p.Thr252=