Canonical Allele Identifier: CA2202032493

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088295G= , CM000678.2:g.2088295G=	GRCh38
NC_000016.9:g.2138296G= , CM000678.1:g.2138296G=	GRCh37
NC_000016.8:g.2078297G=	NCBI36
NG_005895.1:g.43990G= , LRG_487:g.43990G=
NG_008617.1:g.54926C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3578G=	ENSP00000455997.2:n.*3578G=
ENST00000642206.2:c.5076G=	ENSP00000495146.2:p.Arg1692=
ENST00000642365.2:c.5226G=	ENSP00000495459.2:p.Arg1742=
ENST00000644417.2:c.*5742G=	ENSP00000493912.2:n.*5742G=
ENST00000646464.2:c.*7978G=	ENSP00000496610.2:n.*7978G=
ENST00000219476.9:c.5229G= MANE Select	ENSP00000219476.3:p.Arg1743=
ENST00000350773.9:c.5160G=	ENSP00000344383.4:p.Arg1720=
ENST00000401874.7:c.5028G=	ENSP00000384468.2:p.Arg1676=
ENST00000568454.6:c.5061G=	ENSP00000454487.1:p.Arg1687=
ENST00000569110.2:c.1452G=
ENST00000569930.2:n.3111G=
ENST00000642365.1:c.3883G=
ENST00000642561.1:c.5088G=	ENSP00000495099.1:p.Arg1696=
ENST00000642791.1:n.826G=
ENST00000642797.1:c.5031G=	ENSP00000493846.1:p.Arg1677=
ENST00000642936.1:c.5097G=	ENSP00000494514.1:p.Arg1699=
ENST00000643088.1:c.5022G=	ENSP00000494747.1:p.Arg1674=
ENST00000643426.1:n.2877G=
ENST00000643946.1:c.5154G=	ENSP00000495927.1:p.Arg1718=
ENST00000644043.1:c.5100G=	ENSP00000496262.1:p.Arg1700=
ENST00000644329.1:c.5115G=	ENSP00000496611.1:p.Arg1705=
ENST00000644335.1:c.5025G=	ENSP00000496317.1:p.Arg1675=
ENST00000644399.1:c.5150G=
ENST00000645024.1:n.3313G=
ENST00000646388.1:c.5223G=	ENSP00000495921.1:p.Arg1741=
ENST00000646634.1:n.4044G=
ENST00000646674.1:n.2481G=
ENST00000647042.1:n.2452G=
ENST00000647180.1:n.2342G=
ENST00000219476.7:c.5229G=	ENSP00000219476.3:p.Arg1743=
ENST00000350773.8:c.5160G=	ENSP00000344383.4:p.Arg1720=
ENST00000382538.10:c.4884G=	ENSP00000371978.6:p.Arg1628=
ENST00000401874.6:c.5028G=	ENSP00000384468.2:p.Arg1676=
ENST00000439117.6:c.*4396G=	ENSP00000406980.2:n.*4396G=
ENST00000439673.6:c.4920G=	ENSP00000399232.2:p.Arg1640=
ENST00000497886.5:n.2952G=
ENST00000568454.5:c.5061G=	ENSP00000454487.1:p.Arg1687=
ENST00000569110.1:c.1411G=
ENST00000569930.1:n.2344G=
NM_000548.3:c.5229G= , LRG_487t1:c.5229G=	NP_000539.2:p.Arg1743=
NM_001077183.1:c.5028G=	NP_001070651.1:p.Arg1676=
NM_001114382.1:c.5160G=	NP_001107854.1:p.Arg1720=
XM_005255529.3:c.5100G=	XP_005255586.2:p.Arg1700=
XM_005255531.3:c.5031G=	XP_005255588.2:p.Arg1677=
XM_011522636.1:c.5283G=	XP_011520938.1:p.Arg1761=
XM_011522637.1:c.5280G=	XP_011520939.1:p.Arg1760=
XM_011522638.1:c.5172G=	XP_011520940.1:p.Arg1724=
XM_011522639.1:c.5154G=	XP_011520941.1:p.Arg1718=
XM_011522640.1:c.5151G=	XP_011520942.1:p.Arg1717=
XM_011522641.1:c.4920G=	XP_011520943.1:p.Arg1640=
NM_000548.4:c.5229G=	NP_000539.2:p.Arg1743=
NM_001077183.2:c.5028G=	NP_001070651.1:p.Arg1676=
NM_001114382.2:c.5160G=	NP_001107854.1:p.Arg1720=
NM_001318827.1:c.4920G=	NP_001305756.1:p.Arg1640=
NM_001318829.1:c.4884G=	NP_001305758.1:p.Arg1628=
NM_001318831.1:c.4497G=	NP_001305760.1:p.Arg1499=
NM_001318832.1:c.5061G=	NP_001305761.1:p.Arg1687=
NM_001363528.1:c.5031G=	NP_001350457.1:p.Arg1677=
NM_021055.2:c.5100G=	NP_066399.2:p.Arg1700=
XM_005255531.4:c.5031G=	XP_005255588.2:p.Arg1677=
XM_011522636.2:c.5283G=	XP_011520938.1:p.Arg1761=
XM_011522637.2:c.5280G=	XP_011520939.1:p.Arg1760=
XM_011522638.2:c.5445G=	XP_011520940.2:p.Arg1815=
XM_011522639.2:c.5154G=	XP_011520941.1:p.Arg1718=
XM_011522640.2:c.5151G=	XP_011520942.1:p.Arg1717=
XM_017023615.1:c.5226G=	XP_016879104.1:p.Arg1742=
XM_017023616.1:c.5097G=	XP_016879105.1:p.Arg1699=
XM_017023617.1:c.5193G=	XP_016879106.1:p.Arg1731=
XM_017023618.1:c.3939G=	XP_016879107.1:p.Arg1313=
XM_024450413.1:c.5115G=	XP_024306181.1:p.Arg1705=
NM_000548.5:c.5229G= MANE Select	NP_000539.2:p.Arg1743=
NM_001370404.1:c.5097G=	NP_001357333.1:p.Arg1699=
NM_001370405.1:c.5088G=	NP_001357334.1:p.Arg1696=
NM_001077183.3:c.5028G=	NP_001070651.1:p.Arg1676=
NM_001114382.3:c.5160G=	NP_001107854.1:p.Arg1720=
NM_001318827.2:c.4920G=	NP_001305756.1:p.Arg1640=
NM_001318829.2:c.4884G=	NP_001305758.1:p.Arg1628=
NM_001318831.2:c.4497G=	NP_001305760.1:p.Arg1499=
NM_001318832.2:c.5061G=	NP_001305761.1:p.Arg1687=
NM_001363528.2:c.5031G=	NP_001350457.1:p.Arg1677=
NM_021055.3:c.5100G=	NP_066399.2:p.Arg1700=