Canonical Allele Identifier: CA2202033710

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088498C= , CM000678.2:g.2088498C=	GRCh38
NC_000016.9:g.2138499C= , CM000678.1:g.2138499C=	GRCh37
NC_000016.8:g.2078500C=	NCBI36
NG_005895.1:g.44193C= , LRG_487:g.44193C=
NG_008617.1:g.54723G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3661C=	ENSP00000455997.2:n.*3661C=
ENST00000642206.2:c.5159C=	ENSP00000495146.2:p.Pro1720=
ENST00000642365.2:c.5309C=	ENSP00000495459.2:p.Pro1770=
ENST00000644417.2:c.*5825C=	ENSP00000493912.2:n.*5825C=
ENST00000646464.2:c.*8061C=	ENSP00000496610.2:n.*8061C=
ENST00000219476.9:c.5312C= MANE Select	ENSP00000219476.3:p.Pro1771=
ENST00000350773.9:c.5243C=	ENSP00000344383.4:p.Pro1748=
ENST00000401874.7:c.5111C=	ENSP00000384468.2:p.Pro1704=
ENST00000568454.6:c.5144C=	ENSP00000454487.1:p.Pro1715=
ENST00000569110.2:c.1535C=
ENST00000569930.2:n.3194C=
ENST00000642365.1:c.3966C=
ENST00000642561.1:c.5171C=	ENSP00000495099.1:p.Pro1724=
ENST00000642791.1:n.909C=
ENST00000642797.1:c.5114C=	ENSP00000493846.1:p.Pro1705=
ENST00000642936.1:c.5180C=	ENSP00000494514.1:p.Pro1727=
ENST00000643088.1:c.5105C=	ENSP00000494747.1:p.Pro1702=
ENST00000643426.1:n.2960C=
ENST00000643946.1:c.5237C=	ENSP00000495927.1:p.Pro1746=
ENST00000644043.1:c.5183C=	ENSP00000496262.1:p.Pro1728=
ENST00000644329.1:c.5198C=	ENSP00000496611.1:p.Pro1733=
ENST00000644335.1:c.5108C=	ENSP00000496317.1:p.Pro1703=
ENST00000644399.1:c.5233C=
ENST00000645024.1:n.3396C=
ENST00000646388.1:c.5306C=	ENSP00000495921.1:p.Pro1769=
ENST00000646634.1:n.4127C=
ENST00000646674.1:n.2564C=
ENST00000647042.1:n.2535C=
ENST00000647180.1:n.2425C=
ENST00000219476.7:c.5312C=	ENSP00000219476.3:p.Pro1771=
ENST00000350773.8:c.5243C=	ENSP00000344383.4:p.Pro1748=
ENST00000382538.10:c.4967C=	ENSP00000371978.6:p.Pro1656=
ENST00000401874.6:c.5111C=	ENSP00000384468.2:p.Pro1704=
ENST00000439117.6:c.*4479C=	ENSP00000406980.2:n.*4479C=
ENST00000439673.6:c.5003C=	ENSP00000399232.2:p.Pro1668=
ENST00000497886.5:n.3035C=
ENST00000568454.5:c.5144C=	ENSP00000454487.1:p.Pro1715=
ENST00000569110.1:c.1494C=
ENST00000569930.1:n.2427C=
NM_000548.3:c.5312C= , LRG_487t1:c.5312C=	NP_000539.2:p.Pro1771=
NM_001077183.1:c.5111C=	NP_001070651.1:p.Pro1704=
NM_001114382.1:c.5243C=	NP_001107854.1:p.Pro1748=
XM_005255529.3:c.5183C=	XP_005255586.2:p.Pro1728=
XM_005255531.3:c.5114C=	XP_005255588.2:p.Pro1705=
XM_011522636.1:c.5366C=	XP_011520938.1:p.Pro1789=
XM_011522637.1:c.5363C=	XP_011520939.1:p.Pro1788=
XM_011522638.1:c.5255C=	XP_011520940.1:p.Pro1752=
XM_011522639.1:c.5237C=	XP_011520941.1:p.Pro1746=
XM_011522640.1:c.5234C=	XP_011520942.1:p.Pro1745=
XM_011522641.1:c.5003C=	XP_011520943.1:p.Pro1668=
NM_000548.4:c.5312C=	NP_000539.2:p.Pro1771=
NM_001077183.2:c.5111C=	NP_001070651.1:p.Pro1704=
NM_001114382.2:c.5243C=	NP_001107854.1:p.Pro1748=
NM_001318827.1:c.5003C=	NP_001305756.1:p.Pro1668=
NM_001318829.1:c.4967C=	NP_001305758.1:p.Pro1656=
NM_001318831.1:c.4580C=	NP_001305760.1:p.Pro1527=
NM_001318832.1:c.5144C=	NP_001305761.1:p.Pro1715=
NM_001363528.1:c.5114C=	NP_001350457.1:p.Pro1705=
NM_021055.2:c.5183C=	NP_066399.2:p.Pro1728=
XM_005255531.4:c.5114C=	XP_005255588.2:p.Pro1705=
XM_011522636.2:c.5366C=	XP_011520938.1:p.Pro1789=
XM_011522637.2:c.5363C=	XP_011520939.1:p.Pro1788=
XM_011522638.2:c.5528C=	XP_011520940.2:p.Pro1843=
XM_011522639.2:c.5237C=	XP_011520941.1:p.Pro1746=
XM_011522640.2:c.5234C=	XP_011520942.1:p.Pro1745=
XM_017023615.1:c.5309C=	XP_016879104.1:p.Pro1770=
XM_017023616.1:c.5180C=	XP_016879105.1:p.Pro1727=
XM_017023617.1:c.5276C=	XP_016879106.1:p.Pro1759=
XM_017023618.1:c.4022C=	XP_016879107.1:p.Pro1341=
XM_024450413.1:c.5198C=	XP_024306181.1:p.Pro1733=
NM_000548.5:c.5312C= MANE Select	NP_000539.2:p.Pro1771=
NM_001370404.1:c.5180C=	NP_001357333.1:p.Pro1727=
NM_001370405.1:c.5171C=	NP_001357334.1:p.Pro1724=
NM_001077183.3:c.5111C=	NP_001070651.1:p.Pro1704=
NM_001114382.3:c.5243C=	NP_001107854.1:p.Pro1748=
NM_001318827.2:c.5003C=	NP_001305756.1:p.Pro1668=
NM_001318829.2:c.4967C=	NP_001305758.1:p.Pro1656=
NM_001318831.2:c.4580C=	NP_001305760.1:p.Pro1527=
NM_001318832.2:c.5144C=	NP_001305761.1:p.Pro1715=
NM_001363528.2:c.5114C=	NP_001350457.1:p.Pro1705=
NM_021055.3:c.5183C=	NP_066399.2:p.Pro1728=