Canonical Allele Identifier: CA2202019710

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085316A= , CM000678.2:g.2085316A=	GRCh38
NC_000016.9:g.2135317A= , CM000678.1:g.2135317A=	GRCh37
NC_000016.8:g.2075318A=	NCBI36
NG_005895.1:g.41011A= , LRG_487:g.41011A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3005A=	ENSP00000455997.2:n.*3005A=
ENST00000642206.2:c.4503A=	ENSP00000495146.2:p.Glu1501=
ENST00000642365.2:c.4653A=	ENSP00000495459.2:p.Glu1551=
ENST00000644417.2:c.*5036A=	ENSP00000493912.2:n.*5036A=
ENST00000646464.2:c.*7405A=	ENSP00000496610.2:n.*7405A=
ENST00000219476.9:c.4656A= MANE Select	ENSP00000219476.3:p.Glu1552=
ENST00000350773.9:c.4587A=	ENSP00000344383.4:p.Glu1529=
ENST00000401874.7:c.4455A=	ENSP00000384468.2:p.Glu1485=
ENST00000568454.6:c.4488A=	ENSP00000454487.1:p.Glu1496=
ENST00000569110.2:c.879A=
ENST00000569930.2:n.2538A=
ENST00000642365.1:c.3310A=
ENST00000642561.1:c.4527A=	ENSP00000495099.1:p.Glu1509=
ENST00000642728.1:n.838A=
ENST00000642791.1:n.253A=
ENST00000642797.1:c.4458A=	ENSP00000493846.1:p.Glu1486=
ENST00000642936.1:c.4524A=	ENSP00000494514.1:p.Glu1508=
ENST00000643088.1:c.4449A=	ENSP00000494747.1:p.Glu1483=
ENST00000643177.1:n.670A=
ENST00000643426.1:n.2304A=
ENST00000643946.1:c.4581A=	ENSP00000495927.1:p.Glu1527=
ENST00000644043.1:c.4527A=	ENSP00000496262.1:p.Glu1509=
ENST00000644278.1:n.138A=
ENST00000644329.1:c.4455A=	ENSP00000496611.1:p.Glu1485=
ENST00000644335.1:c.4452A=	ENSP00000496317.1:p.Glu1484=
ENST00000644399.1:c.4577A=
ENST00000645024.1:n.2740A=
ENST00000646388.1:c.4650A=	ENSP00000495921.1:p.Glu1550=
ENST00000646634.1:n.3471A=
ENST00000646674.1:n.1908A=
ENST00000647042.1:n.1879A=
ENST00000647180.1:n.1769A=
ENST00000219476.7:c.4656A=	ENSP00000219476.3:p.Glu1552=
ENST00000350773.8:c.4587A=	ENSP00000344383.4:p.Glu1529=
ENST00000382538.10:c.4311A=	ENSP00000371978.6:p.Glu1437=
ENST00000401874.6:c.4455A=	ENSP00000384468.2:p.Glu1485=
ENST00000439117.6:c.*3823A=	ENSP00000406980.2:n.*3823A=
ENST00000439673.6:c.4347A=	ENSP00000399232.2:p.Glu1449=
ENST00000497886.5:n.2414A=
ENST00000568454.5:c.4488A=	ENSP00000454487.1:p.Glu1496=
ENST00000569110.1:c.838A=
ENST00000569930.1:n.1771A=
NM_000548.3:c.4656A= , LRG_487t1:c.4656A=	NP_000539.2:p.Glu1552=
NM_001077183.1:c.4455A=	NP_001070651.1:p.Glu1485=
NM_001114382.1:c.4587A=	NP_001107854.1:p.Glu1529=
XM_005255529.3:c.4527A=	XP_005255586.2:p.Glu1509=
XM_005255531.3:c.4458A=	XP_005255588.2:p.Glu1486=
XM_011522636.1:c.4710A=	XP_011520938.1:p.Glu1570=
XM_011522637.1:c.4707A=	XP_011520939.1:p.Glu1569=
XM_011522638.1:c.4599A=	XP_011520940.1:p.Glu1533=
XM_011522639.1:c.4581A=	XP_011520941.1:p.Glu1527=
XM_011522640.1:c.4578A=	XP_011520942.1:p.Glu1526=
XM_011522641.1:c.4347A=	XP_011520943.1:p.Glu1449=
NM_000548.4:c.4656A=	NP_000539.2:p.Glu1552=
NM_001077183.2:c.4455A=	NP_001070651.1:p.Glu1485=
NM_001114382.2:c.4587A=	NP_001107854.1:p.Glu1529=
NM_001318827.1:c.4347A=	NP_001305756.1:p.Glu1449=
NM_001318829.1:c.4311A=	NP_001305758.1:p.Glu1437=
NM_001318831.1:c.3924A=	NP_001305760.1:p.Glu1308=
NM_001318832.1:c.4488A=	NP_001305761.1:p.Glu1496=
NM_001363528.1:c.4458A=	NP_001350457.1:p.Glu1486=
NM_021055.2:c.4527A=	NP_066399.2:p.Glu1509=
XM_005255531.4:c.4458A=	XP_005255588.2:p.Glu1486=
XM_011522636.2:c.4710A=	XP_011520938.1:p.Glu1570=
XM_011522637.2:c.4707A=	XP_011520939.1:p.Glu1569=
XM_011522638.2:c.4872A=	XP_011520940.2:p.Glu1624=
XM_011522639.2:c.4581A=	XP_011520941.1:p.Glu1527=
XM_011522640.2:c.4578A=	XP_011520942.1:p.Glu1526=
XM_017023615.1:c.4653A=	XP_016879104.1:p.Glu1551=
XM_017023616.1:c.4524A=	XP_016879105.1:p.Glu1508=
XM_017023617.1:c.4620A=	XP_016879106.1:p.Glu1540=
XM_017023618.1:c.3366A=	XP_016879107.1:p.Glu1122=
XM_024450413.1:c.4455A=	XP_024306181.1:p.Glu1485=
NM_000548.5:c.4656A= MANE Select	NP_000539.2:p.Glu1552=
NM_001370404.1:c.4524A=	NP_001357333.1:p.Glu1508=
NM_001370405.1:c.4527A=	NP_001357334.1:p.Glu1509=
NM_001077183.3:c.4455A=	NP_001070651.1:p.Glu1485=
NM_001114382.3:c.4587A=	NP_001107854.1:p.Glu1529=
NM_001318827.2:c.4347A=	NP_001305756.1:p.Glu1449=
NM_001318829.2:c.4311A=	NP_001305758.1:p.Glu1437=
NM_001318831.2:c.3924A=	NP_001305760.1:p.Glu1308=
NM_001318832.2:c.4488A=	NP_001305761.1:p.Glu1496=
NM_001363528.2:c.4458A=	NP_001350457.1:p.Glu1486=
NM_021055.3:c.4527A=	NP_066399.2:p.Glu1509=