Canonical Allele Identifier: CA2202032599

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088304C= , CM000678.2:g.2088304C=	GRCh38
NC_000016.9:g.2138305C= , CM000678.1:g.2138305C=	GRCh37
NC_000016.8:g.2078306C=	NCBI36
NG_005895.1:g.43999C= , LRG_487:g.43999C=
NG_008617.1:g.54917G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3587C=	ENSP00000455997.2:n.*3587C=
ENST00000642206.2:c.5085C=	ENSP00000495146.2:p.His1695=
ENST00000642365.2:c.5235C=	ENSP00000495459.2:p.His1745=
ENST00000644417.2:c.*5751C=	ENSP00000493912.2:n.*5751C=
ENST00000646464.2:c.*7987C=	ENSP00000496610.2:n.*7987C=
ENST00000219476.9:c.5238C= MANE Select	ENSP00000219476.3:p.His1746=
ENST00000350773.9:c.5169C=	ENSP00000344383.4:p.His1723=
ENST00000401874.7:c.5037C=	ENSP00000384468.2:p.His1679=
ENST00000568454.6:c.5070C=	ENSP00000454487.1:p.His1690=
ENST00000569110.2:c.1461C=
ENST00000569930.2:n.3120C=
ENST00000642365.1:c.3892C=
ENST00000642561.1:c.5097C=	ENSP00000495099.1:p.His1699=
ENST00000642791.1:n.835C=
ENST00000642797.1:c.5040C=	ENSP00000493846.1:p.His1680=
ENST00000642936.1:c.5106C=	ENSP00000494514.1:p.His1702=
ENST00000643088.1:c.5031C=	ENSP00000494747.1:p.His1677=
ENST00000643426.1:n.2886C=
ENST00000643946.1:c.5163C=	ENSP00000495927.1:p.His1721=
ENST00000644043.1:c.5109C=	ENSP00000496262.1:p.His1703=
ENST00000644329.1:c.5124C=	ENSP00000496611.1:p.His1708=
ENST00000644335.1:c.5034C=	ENSP00000496317.1:p.His1678=
ENST00000644399.1:c.5159C=
ENST00000645024.1:n.3322C=
ENST00000646388.1:c.5232C=	ENSP00000495921.1:p.His1744=
ENST00000646634.1:n.4053C=
ENST00000646674.1:n.2490C=
ENST00000647042.1:n.2461C=
ENST00000647180.1:n.2351C=
ENST00000219476.7:c.5238C=	ENSP00000219476.3:p.His1746=
ENST00000350773.8:c.5169C=	ENSP00000344383.4:p.His1723=
ENST00000382538.10:c.4893C=	ENSP00000371978.6:p.His1631=
ENST00000401874.6:c.5037C=	ENSP00000384468.2:p.His1679=
ENST00000439117.6:c.*4405C=	ENSP00000406980.2:n.*4405C=
ENST00000439673.6:c.4929C=	ENSP00000399232.2:p.His1643=
ENST00000497886.5:n.2961C=
ENST00000568454.5:c.5070C=	ENSP00000454487.1:p.His1690=
ENST00000569110.1:c.1420C=
ENST00000569930.1:n.2353C=
NM_000548.3:c.5238C= , LRG_487t1:c.5238C=	NP_000539.2:p.His1746=
NM_001077183.1:c.5037C=	NP_001070651.1:p.His1679=
NM_001114382.1:c.5169C=	NP_001107854.1:p.His1723=
XM_005255529.3:c.5109C=	XP_005255586.2:p.His1703=
XM_005255531.3:c.5040C=	XP_005255588.2:p.His1680=
XM_011522636.1:c.5292C=	XP_011520938.1:p.His1764=
XM_011522637.1:c.5289C=	XP_011520939.1:p.His1763=
XM_011522638.1:c.5181C=	XP_011520940.1:p.His1727=
XM_011522639.1:c.5163C=	XP_011520941.1:p.His1721=
XM_011522640.1:c.5160C=	XP_011520942.1:p.His1720=
XM_011522641.1:c.4929C=	XP_011520943.1:p.His1643=
NM_000548.4:c.5238C=	NP_000539.2:p.His1746=
NM_001077183.2:c.5037C=	NP_001070651.1:p.His1679=
NM_001114382.2:c.5169C=	NP_001107854.1:p.His1723=
NM_001318827.1:c.4929C=	NP_001305756.1:p.His1643=
NM_001318829.1:c.4893C=	NP_001305758.1:p.His1631=
NM_001318831.1:c.4506C=	NP_001305760.1:p.His1502=
NM_001318832.1:c.5070C=	NP_001305761.1:p.His1690=
NM_001363528.1:c.5040C=	NP_001350457.1:p.His1680=
NM_021055.2:c.5109C=	NP_066399.2:p.His1703=
XM_005255531.4:c.5040C=	XP_005255588.2:p.His1680=
XM_011522636.2:c.5292C=	XP_011520938.1:p.His1764=
XM_011522637.2:c.5289C=	XP_011520939.1:p.His1763=
XM_011522638.2:c.5454C=	XP_011520940.2:p.His1818=
XM_011522639.2:c.5163C=	XP_011520941.1:p.His1721=
XM_011522640.2:c.5160C=	XP_011520942.1:p.His1720=
XM_017023615.1:c.5235C=	XP_016879104.1:p.His1745=
XM_017023616.1:c.5106C=	XP_016879105.1:p.His1702=
XM_017023617.1:c.5202C=	XP_016879106.1:p.His1734=
XM_017023618.1:c.3948C=	XP_016879107.1:p.His1316=
XM_024450413.1:c.5124C=	XP_024306181.1:p.His1708=
NM_000548.5:c.5238C= MANE Select	NP_000539.2:p.His1746=
NM_001370404.1:c.5106C=	NP_001357333.1:p.His1702=
NM_001370405.1:c.5097C=	NP_001357334.1:p.His1699=
NM_001077183.3:c.5037C=	NP_001070651.1:p.His1679=
NM_001114382.3:c.5169C=	NP_001107854.1:p.His1723=
NM_001318827.2:c.4929C=	NP_001305756.1:p.His1643=
NM_001318829.2:c.4893C=	NP_001305758.1:p.His1631=
NM_001318831.2:c.4506C=	NP_001305760.1:p.His1502=
NM_001318832.2:c.5070C=	NP_001305761.1:p.His1690=
NM_001363528.2:c.5040C=	NP_001350457.1:p.His1680=
NM_021055.3:c.5109C=	NP_066399.2:p.His1703=