Canonical Allele Identifier: CA2202024591

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086734G= , CM000678.2:g.2086734G=	GRCh38
NC_000016.9:g.2136735G= , CM000678.1:g.2136735G=	GRCh37
NC_000016.8:g.2076736G=	NCBI36
NG_005895.1:g.42429G= , LRG_487:g.42429G=
NG_008617.1:g.56487C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3201G=	ENSP00000455997.2:n.*3201G=
ENST00000642206.2:c.4699G=	ENSP00000495146.2:p.Val1567=
ENST00000642365.2:c.4849G=	ENSP00000495459.2:p.Val1617=
ENST00000644417.2:c.*5365G=	ENSP00000493912.2:n.*5365G=
ENST00000646464.2:c.*7601G=	ENSP00000496610.2:n.*7601G=
ENST00000219476.9:c.4852G= MANE Select	ENSP00000219476.3:p.Val1618=
ENST00000350773.9:c.4783G=	ENSP00000344383.4:p.Val1595=
ENST00000401874.7:c.4651G=	ENSP00000384468.2:p.Val1551=
ENST00000568454.6:c.4684G=	ENSP00000454487.1:p.Val1562=
ENST00000569110.2:c.1075G=
ENST00000569930.2:n.2734G=
ENST00000642365.1:c.3506G=
ENST00000642561.1:c.4723G=	ENSP00000495099.1:p.Val1575=
ENST00000642728.1:n.1034G=
ENST00000642791.1:n.449G=
ENST00000642797.1:c.4654G=	ENSP00000493846.1:p.Val1552=
ENST00000642936.1:c.4720G=	ENSP00000494514.1:p.Val1574=
ENST00000643088.1:c.4645G=	ENSP00000494747.1:p.Val1549=
ENST00000643177.1:n.866G=
ENST00000643426.1:n.2500G=
ENST00000643946.1:c.4777G=	ENSP00000495927.1:p.Val1593=
ENST00000644043.1:c.4723G=	ENSP00000496262.1:p.Val1575=
ENST00000644278.1:n.334G=
ENST00000644329.1:c.4651G=	ENSP00000496611.1:p.Val1551=
ENST00000644335.1:c.4648G=	ENSP00000496317.1:p.Val1550=
ENST00000644399.1:c.4773G=
ENST00000645024.1:n.2936G=
ENST00000646388.1:c.4846G=	ENSP00000495921.1:p.Val1616=
ENST00000646557.1:n.13G=
ENST00000646634.1:n.3667G=
ENST00000646674.1:n.2104G=
ENST00000647042.1:n.2075G=
ENST00000647180.1:n.1965G=
ENST00000219476.7:c.4852G=	ENSP00000219476.3:p.Val1618=
ENST00000350773.8:c.4783G=	ENSP00000344383.4:p.Val1595=
ENST00000382538.10:c.4507G=	ENSP00000371978.6:p.Val1503=
ENST00000401874.6:c.4651G=	ENSP00000384468.2:p.Val1551=
ENST00000439117.6:c.*4019G=	ENSP00000406980.2:n.*4019G=
ENST00000439673.6:c.4543G=	ENSP00000399232.2:p.Val1515=
ENST00000497886.5:n.2608-33G=
ENST00000568454.5:c.4684G=	ENSP00000454487.1:p.Val1562=
ENST00000569110.1:c.1034G=
ENST00000569930.1:n.1967G=
NM_000548.3:c.4852G= , LRG_487t1:c.4852G=	NP_000539.2:p.Val1618=
NM_001077183.1:c.4651G=	NP_001070651.1:p.Val1551=
NM_001114382.1:c.4783G=	NP_001107854.1:p.Val1595=
XM_005255529.3:c.4723G=	XP_005255586.2:p.Val1575=
XM_005255531.3:c.4654G=	XP_005255588.2:p.Val1552=
XM_011522636.1:c.4906G=	XP_011520938.1:p.Val1636=
XM_011522637.1:c.4903G=	XP_011520939.1:p.Val1635=
XM_011522638.1:c.4795G=	XP_011520940.1:p.Val1599=
XM_011522639.1:c.4777G=	XP_011520941.1:p.Val1593=
XM_011522640.1:c.4774G=	XP_011520942.1:p.Val1592=
XM_011522641.1:c.4543G=	XP_011520943.1:p.Val1515=
NM_000548.4:c.4852G=	NP_000539.2:p.Val1618=
NM_001077183.2:c.4651G=	NP_001070651.1:p.Val1551=
NM_001114382.2:c.4783G=	NP_001107854.1:p.Val1595=
NM_001318827.1:c.4543G=	NP_001305756.1:p.Val1515=
NM_001318829.1:c.4507G=	NP_001305758.1:p.Val1503=
NM_001318831.1:c.4120G=	NP_001305760.1:p.Val1374=
NM_001318832.1:c.4684G=	NP_001305761.1:p.Val1562=
NM_001363528.1:c.4654G=	NP_001350457.1:p.Val1552=
NM_021055.2:c.4723G=	NP_066399.2:p.Val1575=
XM_005255531.4:c.4654G=	XP_005255588.2:p.Val1552=
XM_011522636.2:c.4906G=	XP_011520938.1:p.Val1636=
XM_011522637.2:c.4903G=	XP_011520939.1:p.Val1635=
XM_011522638.2:c.5068G=	XP_011520940.2:p.Val1690=
XM_011522639.2:c.4777G=	XP_011520941.1:p.Val1593=
XM_011522640.2:c.4774G=	XP_011520942.1:p.Val1592=
XM_017023615.1:c.4849G=	XP_016879104.1:p.Val1617=
XM_017023616.1:c.4720G=	XP_016879105.1:p.Val1574=
XM_017023617.1:c.4816G=	XP_016879106.1:p.Val1606=
XM_017023618.1:c.3562G=	XP_016879107.1:p.Val1188=
XM_024450413.1:c.4651G=	XP_024306181.1:p.Val1551=
NM_000548.5:c.4852G= MANE Select	NP_000539.2:p.Val1618=
NM_001370404.1:c.4720G=	NP_001357333.1:p.Val1574=
NM_001370405.1:c.4723G=	NP_001357334.1:p.Val1575=
NM_001077183.3:c.4651G=	NP_001070651.1:p.Val1551=
NM_001114382.3:c.4783G=	NP_001107854.1:p.Val1595=
NM_001318827.2:c.4543G=	NP_001305756.1:p.Val1515=
NM_001318829.2:c.4507G=	NP_001305758.1:p.Val1503=
NM_001318831.2:c.4120G=	NP_001305760.1:p.Val1374=
NM_001318832.2:c.4684G=	NP_001305761.1:p.Val1562=
NM_001363528.2:c.4654G=	NP_001350457.1:p.Val1552=
NM_021055.3:c.4723G=	NP_066399.2:p.Val1575=