Canonical Allele Identifier: CA2202018201

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084995A= , CM000678.2:g.2084995A=	GRCh38
NC_000016.9:g.2134996A= , CM000678.1:g.2134996A=	GRCh37
NC_000016.8:g.2074997A=	NCBI36
NG_005895.1:g.40690A= , LRG_487:g.40690A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2887A=	ENSP00000455997.2:n.*2887A=
ENST00000642206.2:c.4385A=	ENSP00000495146.2:p.Glu1462=
ENST00000642365.2:c.4535A=	ENSP00000495459.2:p.Glu1512=
ENST00000644417.2:c.*4918A=	ENSP00000493912.2:n.*4918A=
ENST00000646464.2:c.*7287A=	ENSP00000496610.2:n.*7287A=
ENST00000219476.9:c.4538A= MANE Select	ENSP00000219476.3:p.Glu1513=
ENST00000350773.9:c.4469A=	ENSP00000344383.4:p.Glu1490=
ENST00000401874.7:c.4337A=	ENSP00000384468.2:p.Glu1446=
ENST00000568454.6:c.4370A=	ENSP00000454487.1:p.Glu1457=
ENST00000569110.2:c.761A=
ENST00000569930.2:n.2420A=
ENST00000642365.1:c.3192A=
ENST00000642561.1:c.4409A=	ENSP00000495099.1:p.Glu1470=
ENST00000642728.1:n.720A=
ENST00000642797.1:c.4340A=	ENSP00000493846.1:p.Glu1447=
ENST00000642936.1:c.4406A=	ENSP00000494514.1:p.Glu1469=
ENST00000643088.1:c.4337A=	ENSP00000494747.1:p.Glu1446=
ENST00000643177.1:n.552A=
ENST00000643426.1:n.2186A=
ENST00000643946.1:c.4469A=	ENSP00000495927.1:p.Glu1490=
ENST00000644043.1:c.4409A=	ENSP00000496262.1:p.Glu1470=
ENST00000644329.1:c.4337A=	ENSP00000496611.1:p.Glu1446=
ENST00000644335.1:c.4340A=	ENSP00000496317.1:p.Glu1447=
ENST00000644399.1:c.4459A=
ENST00000645024.1:n.2622A=
ENST00000646388.1:c.4538A=	ENSP00000495921.1:p.Glu1513=
ENST00000646634.1:n.3353A=
ENST00000646674.1:n.1790A=
ENST00000647042.1:n.1761A=
ENST00000647180.1:n.1651A=
ENST00000219476.7:c.4538A=	ENSP00000219476.3:p.Glu1513=
ENST00000350773.8:c.4469A=	ENSP00000344383.4:p.Glu1490=
ENST00000382538.10:c.4193A=	ENSP00000371978.6:p.Glu1398=
ENST00000401874.6:c.4337A=	ENSP00000384468.2:p.Glu1446=
ENST00000439117.6:c.*3705A=	ENSP00000406980.2:n.*3705A=
ENST00000439673.6:c.4229A=	ENSP00000399232.2:p.Glu1410=
ENST00000497886.5:n.2296A=
ENST00000568454.5:c.4370A=	ENSP00000454487.1:p.Glu1457=
ENST00000569110.1:c.720A=
ENST00000569930.1:n.1653A=
NM_000548.3:c.4538A= , LRG_487t1:c.4538A=	NP_000539.2:p.Glu1513=
NM_001077183.1:c.4337A=	NP_001070651.1:p.Glu1446=
NM_001114382.1:c.4469A=	NP_001107854.1:p.Glu1490=
XM_005255529.3:c.4409A=	XP_005255586.2:p.Glu1470=
XM_005255531.3:c.4340A=	XP_005255588.2:p.Glu1447=
XM_011522636.1:c.4592A=	XP_011520938.1:p.Glu1531=
XM_011522637.1:c.4589A=	XP_011520939.1:p.Glu1530=
XM_011522638.1:c.4481A=	XP_011520940.1:p.Glu1494=
XM_011522639.1:c.4463A=	XP_011520941.1:p.Glu1488=
XM_011522640.1:c.4460A=	XP_011520942.1:p.Glu1487=
XM_011522641.1:c.4229A=	XP_011520943.1:p.Glu1410=
NM_000548.4:c.4538A=	NP_000539.2:p.Glu1513=
NM_001077183.2:c.4337A=	NP_001070651.1:p.Glu1446=
NM_001114382.2:c.4469A=	NP_001107854.1:p.Glu1490=
NM_001318827.1:c.4229A=	NP_001305756.1:p.Glu1410=
NM_001318829.1:c.4193A=	NP_001305758.1:p.Glu1398=
NM_001318831.1:c.3806A=	NP_001305760.1:p.Glu1269=
NM_001318832.1:c.4370A=	NP_001305761.1:p.Glu1457=
NM_001363528.1:c.4340A=	NP_001350457.1:p.Glu1447=
NM_021055.2:c.4409A=	NP_066399.2:p.Glu1470=
XM_005255531.4:c.4340A=	XP_005255588.2:p.Glu1447=
XM_011522636.2:c.4592A=	XP_011520938.1:p.Glu1531=
XM_011522637.2:c.4589A=	XP_011520939.1:p.Glu1530=
XM_011522638.2:c.4754A=	XP_011520940.2:p.Glu1585=
XM_011522639.2:c.4463A=	XP_011520941.1:p.Glu1488=
XM_011522640.2:c.4460A=	XP_011520942.1:p.Glu1487=
XM_017023615.1:c.4535A=	XP_016879104.1:p.Glu1512=
XM_017023616.1:c.4406A=	XP_016879105.1:p.Glu1469=
XM_017023617.1:c.4502A=	XP_016879106.1:p.Glu1501=
XM_017023618.1:c.3248A=	XP_016879107.1:p.Glu1083=
XM_024450413.1:c.4337A=	XP_024306181.1:p.Glu1446=
NM_000548.5:c.4538A= MANE Select	NP_000539.2:p.Glu1513=
NM_001370404.1:c.4406A=	NP_001357333.1:p.Glu1469=
NM_001370405.1:c.4409A=	NP_001357334.1:p.Glu1470=
NM_001077183.3:c.4337A=	NP_001070651.1:p.Glu1446=
NM_001114382.3:c.4469A=	NP_001107854.1:p.Glu1490=
NM_001318827.2:c.4229A=	NP_001305756.1:p.Glu1410=
NM_001318829.2:c.4193A=	NP_001305758.1:p.Glu1398=
NM_001318831.2:c.3806A=	NP_001305760.1:p.Glu1269=
NM_001318832.2:c.4370A=	NP_001305761.1:p.Glu1457=
NM_001363528.2:c.4340A=	NP_001350457.1:p.Glu1447=
NM_021055.3:c.4409A=	NP_066399.2:p.Glu1470=