Canonical Allele Identifier: CA2202031604

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088236C= , CM000678.2:g.2088236C=	GRCh38
NC_000016.9:g.2138237C= , CM000678.1:g.2138237C=	GRCh37
NC_000016.8:g.2078238C=	NCBI36
NG_005895.1:g.43931C= , LRG_487:g.43931C=
NG_008617.1:g.54985G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.5170C= MANE Select	NP_000539.2:p.Gln1724=
ENST00000219476.9:c.5170C= MANE Select	ENSP00000219476.3:p.Gln1724=
NM_000548.3:c.5170C= , LRG_487t1:c.5170C=	NP_000539.2:p.Gln1724=
NM_000548.4:c.5170C=	NP_000539.2:p.Gln1724=
NM_001077183.1:c.4969C=	NP_001070651.1:p.Gln1657=
NM_001077183.2:c.4969C=	NP_001070651.1:p.Gln1657=
NM_001077183.3:c.4969C=	NP_001070651.1:p.Gln1657=
NM_001114382.1:c.5101C=	NP_001107854.1:p.Gln1701=
NM_001114382.2:c.5101C=	NP_001107854.1:p.Gln1701=
NM_001114382.3:c.5101C=	NP_001107854.1:p.Gln1701=
NM_001318827.1:c.4861C=	NP_001305756.1:p.Gln1621=
NM_001318827.2:c.4861C=	NP_001305756.1:p.Gln1621=
NM_001318829.1:c.4825C=	NP_001305758.1:p.Gln1609=
NM_001318829.2:c.4825C=	NP_001305758.1:p.Gln1609=
NM_001318831.1:c.4438C=	NP_001305760.1:p.Gln1480=
NM_001318831.2:c.4438C=	NP_001305760.1:p.Gln1480=
NM_001318832.1:c.5002C=	NP_001305761.1:p.Gln1668=
NM_001318832.2:c.5002C=	NP_001305761.1:p.Gln1668=
NM_001363528.1:c.4972C=	NP_001350457.1:p.Gln1658=
NM_001363528.2:c.4972C=	NP_001350457.1:p.Gln1658=
NM_001370404.1:c.5038C=	NP_001357333.1:p.Gln1680=
NM_001370405.1:c.5032-3C=	NP_001357334.1:n.5032-3C=
NM_021055.2:c.5041C=	NP_066399.2:p.Gln1681=
NM_021055.3:c.5041C=	NP_066399.2:p.Gln1681=
ENST00000219476.7:c.5170C=	ENSP00000219476.3:p.Gln1724=
ENST00000350773.8:c.5101C=	ENSP00000344383.4:p.Gln1701=
ENST00000350773.9:c.5101C=	ENSP00000344383.4:p.Gln1701=
ENST00000382538.10:c.4825C=	ENSP00000371978.6:p.Gln1609=
ENST00000401874.6:c.4969C=	ENSP00000384468.2:p.Gln1657=
ENST00000401874.7:c.4969C=	ENSP00000384468.2:p.Gln1657=
ENST00000439117.6:c.*4337C=	ENSP00000406980.2:n.*4337C=
ENST00000439673.6:c.4861C=	ENSP00000399232.2:p.Gln1621=
ENST00000497886.5:n.2893C=
ENST00000568454.5:c.5002C=	ENSP00000454487.1:p.Gln1668=
ENST00000568454.6:c.5002C=	ENSP00000454487.1:p.Gln1668=
ENST00000568566.6:c.*3519C=	ENSP00000455997.2:n.*3519C=
ENST00000569110.1:c.1352C=
ENST00000569110.2:c.1393C=
ENST00000569930.1:n.2285C=
ENST00000569930.2:n.3052C=
ENST00000642206.2:c.5017C=	ENSP00000495146.2:p.Gln1673=
ENST00000642365.1:c.3824C=
ENST00000642365.2:c.5167C=	ENSP00000495459.2:p.Gln1723=
ENST00000642561.1:c.5032-3C=	ENSP00000495099.1:n.5032-3C=
ENST00000642791.1:n.767C=
ENST00000642797.1:c.4972C=	ENSP00000493846.1:p.Gln1658=
ENST00000642936.1:c.5038C=	ENSP00000494514.1:p.Gln1680=
ENST00000643088.1:c.4963C=	ENSP00000494747.1:p.Gln1655=
ENST00000643426.1:n.2818C=
ENST00000643946.1:c.5095C=	ENSP00000495927.1:p.Gln1699=
ENST00000644043.1:c.5041C=	ENSP00000496262.1:p.Gln1681=
ENST00000644329.1:c.5056C=	ENSP00000496611.1:p.Gln1686=
ENST00000644335.1:c.4966C=	ENSP00000496317.1:p.Gln1656=
ENST00000644399.1:c.5091C=
ENST00000644417.2:c.*5683C=	ENSP00000493912.2:n.*5683C=
ENST00000645024.1:n.3254C=
ENST00000646388.1:c.5164C=	ENSP00000495921.1:p.Gln1722=
ENST00000646464.2:c.*7919C=	ENSP00000496610.2:n.*7919C=
ENST00000646634.1:n.3985C=
ENST00000646674.1:n.2422C=
ENST00000647042.1:n.2393C=
ENST00000647180.1:n.2283C=
XM_005255529.3:c.5041C=	XP_005255586.2:p.Gln1681=
XM_005255531.3:c.4972C=	XP_005255588.2:p.Gln1658=
XM_005255531.4:c.4972C=	XP_005255588.2:p.Gln1658=
XM_011522636.1:c.5224C=	XP_011520938.1:p.Gln1742=
XM_011522636.2:c.5224C=	XP_011520938.1:p.Gln1742=
XM_011522637.1:c.5221C=	XP_011520939.1:p.Gln1741=
XM_011522637.2:c.5221C=	XP_011520939.1:p.Gln1741=
XM_011522638.1:c.5113C=	XP_011520940.1:p.Gln1705=
XM_011522638.2:c.5386C=	XP_011520940.2:p.Gln1796=
XM_011522639.1:c.5095C=	XP_011520941.1:p.Gln1699=
XM_011522639.2:c.5095C=	XP_011520941.1:p.Gln1699=
XM_011522640.1:c.5092C=	XP_011520942.1:p.Gln1698=
XM_011522640.2:c.5092C=	XP_011520942.1:p.Gln1698=
XM_011522641.1:c.4861C=	XP_011520943.1:p.Gln1621=
XM_017023615.1:c.5167C=	XP_016879104.1:p.Gln1723=
XM_017023616.1:c.5038C=	XP_016879105.1:p.Gln1680=
XM_017023617.1:c.5134C=	XP_016879106.1:p.Gln1712=
XM_017023618.1:c.3880C=	XP_016879107.1:p.Gln1294=
XM_024450413.1:c.5056C=	XP_024306181.1:p.Gln1686=