Canonical Allele Identifier: CA2201991529

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2064361G= , CM000678.2:g.2064361G=	GRCh38
NC_000016.9:g.2114362G= , CM000678.1:g.2114362G=	GRCh37
NC_000016.8:g.2054363G=	NCBI36
NG_005895.1:g.20056G= , LRG_487:g.20056G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*80G=	ENSP00000455997.2:n.*80G=
ENST00000642206.2:c.1578G=	ENSP00000495146.2:p.Leu526=
ENST00000642365.2:c.1533G=	ENSP00000495459.2:p.Leu511=
ENST00000644417.2:c.*970G=	ENSP00000493912.2:n.*970G=
ENST00000646464.2:c.*1138G=	ENSP00000496610.2:n.*1138G=
ENST00000219476.9:c.1533G= MANE Select	ENSP00000219476.3:p.Leu511=
ENST00000350773.9:c.1533G=	ENSP00000344383.4:p.Leu511=
ENST00000401874.7:c.1533G=	ENSP00000384468.2:p.Leu511=
ENST00000463601.2:n.1661G=
ENST00000568454.6:c.1566G=	ENSP00000454487.1:p.Leu522=
ENST00000642365.1:c.190G=
ENST00000642561.1:c.1533G=	ENSP00000495099.1:p.Leu511=
ENST00000642797.1:c.1533G=	ENSP00000493846.1:p.Leu511=
ENST00000642812.1:n.1578G=
ENST00000642936.1:c.1533G=	ENSP00000494514.1:p.Leu511=
ENST00000643088.1:c.1533G=	ENSP00000494747.1:p.Leu511=
ENST00000643149.1:n.3543G=
ENST00000643298.1:c.*1035G=	ENSP00000494393.1:n.*1035G=
ENST00000643745.1:c.*465G=	ENSP00000495948.1:n.*465G=
ENST00000643946.1:c.1533G=	ENSP00000495927.1:p.Leu511=
ENST00000644043.1:c.1533G=	ENSP00000496262.1:p.Leu511=
ENST00000644135.1:c.1533G=	ENSP00000495644.1:p.Leu511=
ENST00000644222.1:n.1620G=
ENST00000644329.1:c.1533G=	ENSP00000496611.1:p.Leu511=
ENST00000644335.1:c.1533G=	ENSP00000496317.1:p.Leu511=
ENST00000644399.1:c.1526G=
ENST00000644665.1:n.2707G=
ENST00000644847.1:n.525G=
ENST00000645591.1:n.2591G=
ENST00000646388.1:c.1533G=	ENSP00000495921.1:p.Leu511=
ENST00000646634.1:n.546G=
ENST00000647234.1:n.3291G=
ENST00000647242.1:n.2169G=
ENST00000219476.7:c.1533G=	ENSP00000219476.3:p.Leu511=
ENST00000350773.8:c.1533G=	ENSP00000344383.4:p.Leu511=
ENST00000382538.10:c.1386G=	ENSP00000371978.6:p.Leu462=
ENST00000401874.6:c.1533G=	ENSP00000384468.2:p.Leu511=
ENST00000439117.6:c.*832G=	ENSP00000406980.2:n.*832G=
ENST00000439673.6:c.1422G=	ENSP00000399232.2:p.Leu474=
ENST00000490108.1:n.306G=
ENST00000568238.1:n.291G=
ENST00000568454.5:c.1566G=	ENSP00000454487.1:p.Leu522=
ENST00000568566.5:c.173G=	ENSP00000455997.1:n.173G=
NM_000548.3:c.1533G= , LRG_487t1:c.1533G=	NP_000539.2:p.Leu511=
NM_001077183.1:c.1533G=	NP_001070651.1:p.Leu511=
NM_001114382.1:c.1533G=	NP_001107854.1:p.Leu511=
XM_005255529.3:c.1533G=	XP_005255586.2:p.Leu511=
XM_005255531.3:c.1533G=	XP_005255588.2:p.Leu511=
XM_011522636.1:c.1533G=	XP_011520938.1:p.Leu511=
XM_011522637.1:c.1533G=	XP_011520939.1:p.Leu511=
XM_011522638.1:c.1422G=	XP_011520940.1:p.Leu474=
XM_011522639.1:c.1533G=	XP_011520941.1:p.Leu511=
XM_011522640.1:c.1533G=	XP_011520942.1:p.Leu511=
XM_011522641.1:c.1422G=	XP_011520943.1:p.Leu474=
NM_000548.4:c.1533G=	NP_000539.2:p.Leu511=
NM_001077183.2:c.1533G=	NP_001070651.1:p.Leu511=
NM_001114382.2:c.1533G=	NP_001107854.1:p.Leu511=
NM_001318827.1:c.1422G=	NP_001305756.1:p.Leu474=
NM_001318829.1:c.1386G=	NP_001305758.1:p.Leu462=
NM_001318831.1:c.933G=	NP_001305760.1:p.Leu311=
NM_001318832.1:c.1566G=	NP_001305761.1:p.Leu522=
NM_001363528.1:c.1533G=	NP_001350457.1:p.Leu511=
NM_021055.2:c.1533G=	NP_066399.2:p.Leu511=
XM_005255531.4:c.1533G=	XP_005255588.2:p.Leu511=
XM_011522636.2:c.1533G=	XP_011520938.1:p.Leu511=
XM_011522637.2:c.1533G=	XP_011520939.1:p.Leu511=
XM_011522638.2:c.1695G=	XP_011520940.2:p.Leu565=
XM_011522639.2:c.1533G=	XP_011520941.1:p.Leu511=
XM_011522640.2:c.1533G=	XP_011520942.1:p.Leu511=
XM_017023615.1:c.1533G=	XP_016879104.1:p.Leu511=
XM_017023616.1:c.1533G=	XP_016879105.1:p.Leu511=
XM_017023617.1:c.1695G=	XP_016879106.1:p.Leu565=
XM_017023618.1:c.189G=	XP_016879107.1:p.Leu63=
XM_024450413.1:c.1533G=	XP_024306181.1:p.Leu511=
NM_000548.5:c.1533G= MANE Select	NP_000539.2:p.Leu511=
NM_001370404.1:c.1533G=	NP_001357333.1:p.Leu511=
NM_001370405.1:c.1533G=	NP_001357334.1:p.Leu511=
NM_001077183.3:c.1533G=	NP_001070651.1:p.Leu511=
NM_001114382.3:c.1533G=	NP_001107854.1:p.Leu511=
NM_001318827.2:c.1422G=	NP_001305756.1:p.Leu474=
NM_001318829.2:c.1386G=	NP_001305758.1:p.Leu462=
NM_001318831.2:c.933G=	NP_001305760.1:p.Leu311=
NM_001318832.2:c.1566G=	NP_001305761.1:p.Leu522=
NM_001363528.2:c.1533G=	NP_001350457.1:p.Leu511=
NM_021055.3:c.1533G=	NP_066399.2:p.Leu511=