Canonical Allele Identifier: CA2202019592

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085303T= , CM000678.2:g.2085303T=	GRCh38
NC_000016.9:g.2135304T= , CM000678.1:g.2135304T=	GRCh37
NC_000016.8:g.2075305T=	NCBI36
NG_005895.1:g.40998T= , LRG_487:g.40998T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2992T=	ENSP00000455997.2:n.*2992T=
ENST00000642206.2:c.4490T=	ENSP00000495146.2:p.Leu1497=
ENST00000642365.2:c.4640T=	ENSP00000495459.2:p.Leu1547=
ENST00000644417.2:c.*5023T=	ENSP00000493912.2:n.*5023T=
ENST00000646464.2:c.*7392T=	ENSP00000496610.2:n.*7392T=
ENST00000219476.9:c.4643T= MANE Select	ENSP00000219476.3:p.Leu1548=
ENST00000350773.9:c.4574T=	ENSP00000344383.4:p.Leu1525=
ENST00000401874.7:c.4442T=	ENSP00000384468.2:p.Leu1481=
ENST00000568454.6:c.4475T=	ENSP00000454487.1:p.Leu1492=
ENST00000569110.2:c.866T=
ENST00000569930.2:n.2525T=
ENST00000642365.1:c.3297T=
ENST00000642561.1:c.4514T=	ENSP00000495099.1:p.Leu1505=
ENST00000642728.1:n.825T=
ENST00000642791.1:n.240T=
ENST00000642797.1:c.4445T=	ENSP00000493846.1:p.Leu1482=
ENST00000642936.1:c.4511T=	ENSP00000494514.1:p.Leu1504=
ENST00000643088.1:c.4436T=	ENSP00000494747.1:p.Leu1479=
ENST00000643177.1:n.657T=
ENST00000643426.1:n.2291T=
ENST00000643946.1:c.4568T=	ENSP00000495927.1:p.Leu1523=
ENST00000644043.1:c.4514T=	ENSP00000496262.1:p.Leu1505=
ENST00000644278.1:n.125T=
ENST00000644329.1:c.4442T=	ENSP00000496611.1:p.Leu1481=
ENST00000644335.1:c.4439T=	ENSP00000496317.1:p.Leu1480=
ENST00000644399.1:c.4564T=
ENST00000645024.1:n.2727T=
ENST00000646388.1:c.4637T=	ENSP00000495921.1:p.Leu1546=
ENST00000646634.1:n.3458T=
ENST00000646674.1:n.1895T=
ENST00000647042.1:n.1866T=
ENST00000647180.1:n.1756T=
ENST00000219476.7:c.4643T=	ENSP00000219476.3:p.Leu1548=
ENST00000350773.8:c.4574T=	ENSP00000344383.4:p.Leu1525=
ENST00000382538.10:c.4298T=	ENSP00000371978.6:p.Leu1433=
ENST00000401874.6:c.4442T=	ENSP00000384468.2:p.Leu1481=
ENST00000439117.6:c.*3810T=	ENSP00000406980.2:n.*3810T=
ENST00000439673.6:c.4334T=	ENSP00000399232.2:p.Leu1445=
ENST00000497886.5:n.2401T=
ENST00000568454.5:c.4475T=	ENSP00000454487.1:p.Leu1492=
ENST00000569110.1:c.825T=
ENST00000569930.1:n.1758T=
NM_000548.3:c.4643T= , LRG_487t1:c.4643T=	NP_000539.2:p.Leu1548=
NM_001077183.1:c.4442T=	NP_001070651.1:p.Leu1481=
NM_001114382.1:c.4574T=	NP_001107854.1:p.Leu1525=
XM_005255529.3:c.4514T=	XP_005255586.2:p.Leu1505=
XM_005255531.3:c.4445T=	XP_005255588.2:p.Leu1482=
XM_011522636.1:c.4697T=	XP_011520938.1:p.Leu1566=
XM_011522637.1:c.4694T=	XP_011520939.1:p.Leu1565=
XM_011522638.1:c.4586T=	XP_011520940.1:p.Leu1529=
XM_011522639.1:c.4568T=	XP_011520941.1:p.Leu1523=
XM_011522640.1:c.4565T=	XP_011520942.1:p.Leu1522=
XM_011522641.1:c.4334T=	XP_011520943.1:p.Leu1445=
NM_000548.4:c.4643T=	NP_000539.2:p.Leu1548=
NM_001077183.2:c.4442T=	NP_001070651.1:p.Leu1481=
NM_001114382.2:c.4574T=	NP_001107854.1:p.Leu1525=
NM_001318827.1:c.4334T=	NP_001305756.1:p.Leu1445=
NM_001318829.1:c.4298T=	NP_001305758.1:p.Leu1433=
NM_001318831.1:c.3911T=	NP_001305760.1:p.Leu1304=
NM_001318832.1:c.4475T=	NP_001305761.1:p.Leu1492=
NM_001363528.1:c.4445T=	NP_001350457.1:p.Leu1482=
NM_021055.2:c.4514T=	NP_066399.2:p.Leu1505=
XM_005255531.4:c.4445T=	XP_005255588.2:p.Leu1482=
XM_011522636.2:c.4697T=	XP_011520938.1:p.Leu1566=
XM_011522637.2:c.4694T=	XP_011520939.1:p.Leu1565=
XM_011522638.2:c.4859T=	XP_011520940.2:p.Leu1620=
XM_011522639.2:c.4568T=	XP_011520941.1:p.Leu1523=
XM_011522640.2:c.4565T=	XP_011520942.1:p.Leu1522=
XM_017023615.1:c.4640T=	XP_016879104.1:p.Leu1547=
XM_017023616.1:c.4511T=	XP_016879105.1:p.Leu1504=
XM_017023617.1:c.4607T=	XP_016879106.1:p.Leu1536=
XM_017023618.1:c.3353T=	XP_016879107.1:p.Leu1118=
XM_024450413.1:c.4442T=	XP_024306181.1:p.Leu1481=
NM_000548.5:c.4643T= MANE Select	NP_000539.2:p.Leu1548=
NM_001370404.1:c.4511T=	NP_001357333.1:p.Leu1504=
NM_001370405.1:c.4514T=	NP_001357334.1:p.Leu1505=
NM_001077183.3:c.4442T=	NP_001070651.1:p.Leu1481=
NM_001114382.3:c.4574T=	NP_001107854.1:p.Leu1525=
NM_001318827.2:c.4334T=	NP_001305756.1:p.Leu1445=
NM_001318829.2:c.4298T=	NP_001305758.1:p.Leu1433=
NM_001318831.2:c.3911T=	NP_001305760.1:p.Leu1304=
NM_001318832.2:c.4475T=	NP_001305761.1:p.Leu1492=
NM_001363528.2:c.4445T=	NP_001350457.1:p.Leu1482=
NM_021055.3:c.4514T=	NP_066399.2:p.Leu1505=