Canonical Allele Identifier: CA2202032677

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088318G= , CM000678.2:g.2088318G=	GRCh38
NC_000016.9:g.2138319G= , CM000678.1:g.2138319G=	GRCh37
NC_000016.8:g.2078320G=	NCBI36
NG_005895.1:g.44013G= , LRG_487:g.44013G=
NG_008617.1:g.54903C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3601G=	ENSP00000455997.2:n.*3601G=
ENST00000642206.2:c.5099G=	ENSP00000495146.2:p.Arg1700=
ENST00000642365.2:c.5249G=	ENSP00000495459.2:p.Arg1750=
ENST00000644417.2:c.*5765G=	ENSP00000493912.2:n.*5765G=
ENST00000646464.2:c.*8001G=	ENSP00000496610.2:n.*8001G=
ENST00000219476.9:c.5252G= MANE Select	ENSP00000219476.3:p.Arg1751=
ENST00000350773.9:c.5183G=	ENSP00000344383.4:p.Arg1728=
ENST00000401874.7:c.5051G=	ENSP00000384468.2:p.Arg1684=
ENST00000568454.6:c.5084G=	ENSP00000454487.1:p.Arg1695=
ENST00000569110.2:c.1475G=
ENST00000569930.2:n.3134G=
ENST00000642365.1:c.3906G=
ENST00000642561.1:c.5111G=	ENSP00000495099.1:p.Arg1704=
ENST00000642791.1:n.849G=
ENST00000642797.1:c.5054G=	ENSP00000493846.1:p.Arg1685=
ENST00000642936.1:c.5120G=	ENSP00000494514.1:p.Arg1707=
ENST00000643088.1:c.5045G=	ENSP00000494747.1:p.Arg1682=
ENST00000643426.1:n.2900G=
ENST00000643946.1:c.5177G=	ENSP00000495927.1:p.Arg1726=
ENST00000644043.1:c.5123G=	ENSP00000496262.1:p.Arg1708=
ENST00000644329.1:c.5138G=	ENSP00000496611.1:p.Arg1713=
ENST00000644335.1:c.5048G=	ENSP00000496317.1:p.Arg1683=
ENST00000644399.1:c.5173G=
ENST00000645024.1:n.3336G=
ENST00000646388.1:c.5246G=	ENSP00000495921.1:p.Arg1749=
ENST00000646634.1:n.4067G=
ENST00000646674.1:n.2504G=
ENST00000647042.1:n.2475G=
ENST00000647180.1:n.2365G=
ENST00000219476.7:c.5252G=	ENSP00000219476.3:p.Arg1751=
ENST00000350773.8:c.5183G=	ENSP00000344383.4:p.Arg1728=
ENST00000382538.10:c.4907G=	ENSP00000371978.6:p.Arg1636=
ENST00000401874.6:c.5051G=	ENSP00000384468.2:p.Arg1684=
ENST00000439117.6:c.*4419G=	ENSP00000406980.2:n.*4419G=
ENST00000439673.6:c.4943G=	ENSP00000399232.2:p.Arg1648=
ENST00000497886.5:n.2975G=
ENST00000568454.5:c.5084G=	ENSP00000454487.1:p.Arg1695=
ENST00000569110.1:c.1434G=
ENST00000569930.1:n.2367G=
NM_000548.3:c.5252G= , LRG_487t1:c.5252G=	NP_000539.2:p.Arg1751=
NM_001077183.1:c.5051G=	NP_001070651.1:p.Arg1684=
NM_001114382.1:c.5183G=	NP_001107854.1:p.Arg1728=
XM_005255529.3:c.5123G=	XP_005255586.2:p.Arg1708=
XM_005255531.3:c.5054G=	XP_005255588.2:p.Arg1685=
XM_011522636.1:c.5306G=	XP_011520938.1:p.Arg1769=
XM_011522637.1:c.5303G=	XP_011520939.1:p.Arg1768=
XM_011522638.1:c.5195G=	XP_011520940.1:p.Arg1732=
XM_011522639.1:c.5177G=	XP_011520941.1:p.Arg1726=
XM_011522640.1:c.5174G=	XP_011520942.1:p.Arg1725=
XM_011522641.1:c.4943G=	XP_011520943.1:p.Arg1648=
NM_000548.4:c.5252G=	NP_000539.2:p.Arg1751=
NM_001077183.2:c.5051G=	NP_001070651.1:p.Arg1684=
NM_001114382.2:c.5183G=	NP_001107854.1:p.Arg1728=
NM_001318827.1:c.4943G=	NP_001305756.1:p.Arg1648=
NM_001318829.1:c.4907G=	NP_001305758.1:p.Arg1636=
NM_001318831.1:c.4520G=	NP_001305760.1:p.Arg1507=
NM_001318832.1:c.5084G=	NP_001305761.1:p.Arg1695=
NM_001363528.1:c.5054G=	NP_001350457.1:p.Arg1685=
NM_021055.2:c.5123G=	NP_066399.2:p.Arg1708=
XM_005255531.4:c.5054G=	XP_005255588.2:p.Arg1685=
XM_011522636.2:c.5306G=	XP_011520938.1:p.Arg1769=
XM_011522637.2:c.5303G=	XP_011520939.1:p.Arg1768=
XM_011522638.2:c.5468G=	XP_011520940.2:p.Arg1823=
XM_011522639.2:c.5177G=	XP_011520941.1:p.Arg1726=
XM_011522640.2:c.5174G=	XP_011520942.1:p.Arg1725=
XM_017023615.1:c.5249G=	XP_016879104.1:p.Arg1750=
XM_017023616.1:c.5120G=	XP_016879105.1:p.Arg1707=
XM_017023617.1:c.5216G=	XP_016879106.1:p.Arg1739=
XM_017023618.1:c.3962G=	XP_016879107.1:p.Arg1321=
XM_024450413.1:c.5138G=	XP_024306181.1:p.Arg1713=
NM_000548.5:c.5252G= MANE Select	NP_000539.2:p.Arg1751=
NM_001370404.1:c.5120G=	NP_001357333.1:p.Arg1707=
NM_001370405.1:c.5111G=	NP_001357334.1:p.Arg1704=
NM_001077183.3:c.5051G=	NP_001070651.1:p.Arg1684=
NM_001114382.3:c.5183G=	NP_001107854.1:p.Arg1728=
NM_001318827.2:c.4943G=	NP_001305756.1:p.Arg1648=
NM_001318829.2:c.4907G=	NP_001305758.1:p.Arg1636=
NM_001318831.2:c.4520G=	NP_001305760.1:p.Arg1507=
NM_001318832.2:c.5084G=	NP_001305761.1:p.Arg1695=
NM_001363528.2:c.5054G=	NP_001350457.1:p.Arg1685=
NM_021055.3:c.5123G=	NP_066399.2:p.Arg1708=