Canonical Allele Identifier: CA2202019148

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085245C= , CM000678.2:g.2085245C=	GRCh38
NC_000016.9:g.2135246C= , CM000678.1:g.2135246C=	GRCh37
NC_000016.8:g.2075247C=	NCBI36
NG_005895.1:g.40940C= , LRG_487:g.40940C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2934C=	ENSP00000455997.2:n.*2934C=
ENST00000642206.2:c.4432C=	ENSP00000495146.2:p.Arg1478=
ENST00000642365.2:c.4582C=	ENSP00000495459.2:p.Arg1528=
ENST00000644417.2:c.*4965C=	ENSP00000493912.2:n.*4965C=
ENST00000646464.2:c.*7334C=	ENSP00000496610.2:n.*7334C=
ENST00000219476.9:c.4585C= MANE Select	ENSP00000219476.3:p.Arg1529=
ENST00000350773.9:c.4516C=	ENSP00000344383.4:p.Arg1506=
ENST00000401874.7:c.4384C=	ENSP00000384468.2:p.Arg1462=
ENST00000568454.6:c.4417C=	ENSP00000454487.1:p.Arg1473=
ENST00000569110.2:c.808C=
ENST00000569930.2:n.2467C=
ENST00000642365.1:c.3239C=
ENST00000642561.1:c.4456C=	ENSP00000495099.1:p.Arg1486=
ENST00000642728.1:n.767C=
ENST00000642791.1:n.182C=
ENST00000642797.1:c.4387C=	ENSP00000493846.1:p.Arg1463=
ENST00000642936.1:c.4453C=	ENSP00000494514.1:p.Arg1485=
ENST00000643088.1:c.4378C=	ENSP00000494747.1:p.Arg1460=
ENST00000643177.1:n.599C=
ENST00000643426.1:n.2233C=
ENST00000643946.1:c.4510C=	ENSP00000495927.1:p.Arg1504=
ENST00000644043.1:c.4456C=	ENSP00000496262.1:p.Arg1486=
ENST00000644278.1:n.67C=
ENST00000644329.1:c.4384C=	ENSP00000496611.1:p.Arg1462=
ENST00000644335.1:c.4381C=	ENSP00000496317.1:p.Arg1461=
ENST00000644399.1:c.4506C=
ENST00000645024.1:n.2669C=
ENST00000646388.1:c.4579C=	ENSP00000495921.1:p.Arg1527=
ENST00000646634.1:n.3400C=
ENST00000646674.1:n.1837C=
ENST00000647042.1:n.1808C=
ENST00000647180.1:n.1698C=
ENST00000219476.7:c.4585C=	ENSP00000219476.3:p.Arg1529=
ENST00000350773.8:c.4516C=	ENSP00000344383.4:p.Arg1506=
ENST00000382538.10:c.4240C=	ENSP00000371978.6:p.Arg1414=
ENST00000401874.6:c.4384C=	ENSP00000384468.2:p.Arg1462=
ENST00000439117.6:c.*3752C=	ENSP00000406980.2:n.*3752C=
ENST00000439673.6:c.4276C=	ENSP00000399232.2:p.Arg1426=
ENST00000497886.5:n.2343C=
ENST00000568454.5:c.4417C=	ENSP00000454487.1:p.Arg1473=
ENST00000569110.1:c.767C=
ENST00000569930.1:n.1700C=
NM_000548.3:c.4585C= , LRG_487t1:c.4585C=	NP_000539.2:p.Arg1529=
NM_001077183.1:c.4384C=	NP_001070651.1:p.Arg1462=
NM_001114382.1:c.4516C=	NP_001107854.1:p.Arg1506=
XM_005255529.3:c.4456C=	XP_005255586.2:p.Arg1486=
XM_005255531.3:c.4387C=	XP_005255588.2:p.Arg1463=
XM_011522636.1:c.4639C=	XP_011520938.1:p.Arg1547=
XM_011522637.1:c.4636C=	XP_011520939.1:p.Arg1546=
XM_011522638.1:c.4528C=	XP_011520940.1:p.Arg1510=
XM_011522639.1:c.4510C=	XP_011520941.1:p.Arg1504=
XM_011522640.1:c.4507C=	XP_011520942.1:p.Arg1503=
XM_011522641.1:c.4276C=	XP_011520943.1:p.Arg1426=
NM_000548.4:c.4585C=	NP_000539.2:p.Arg1529=
NM_001077183.2:c.4384C=	NP_001070651.1:p.Arg1462=
NM_001114382.2:c.4516C=	NP_001107854.1:p.Arg1506=
NM_001318827.1:c.4276C=	NP_001305756.1:p.Arg1426=
NM_001318829.1:c.4240C=	NP_001305758.1:p.Arg1414=
NM_001318831.1:c.3853C=	NP_001305760.1:p.Arg1285=
NM_001318832.1:c.4417C=	NP_001305761.1:p.Arg1473=
NM_001363528.1:c.4387C=	NP_001350457.1:p.Arg1463=
NM_021055.2:c.4456C=	NP_066399.2:p.Arg1486=
XM_005255531.4:c.4387C=	XP_005255588.2:p.Arg1463=
XM_011522636.2:c.4639C=	XP_011520938.1:p.Arg1547=
XM_011522637.2:c.4636C=	XP_011520939.1:p.Arg1546=
XM_011522638.2:c.4801C=	XP_011520940.2:p.Arg1601=
XM_011522639.2:c.4510C=	XP_011520941.1:p.Arg1504=
XM_011522640.2:c.4507C=	XP_011520942.1:p.Arg1503=
XM_017023615.1:c.4582C=	XP_016879104.1:p.Arg1528=
XM_017023616.1:c.4453C=	XP_016879105.1:p.Arg1485=
XM_017023617.1:c.4549C=	XP_016879106.1:p.Arg1517=
XM_017023618.1:c.3295C=	XP_016879107.1:p.Arg1099=
XM_024450413.1:c.4384C=	XP_024306181.1:p.Arg1462=
NM_000548.5:c.4585C= MANE Select	NP_000539.2:p.Arg1529=
NM_001370404.1:c.4453C=	NP_001357333.1:p.Arg1485=
NM_001370405.1:c.4456C=	NP_001357334.1:p.Arg1486=
NM_001077183.3:c.4384C=	NP_001070651.1:p.Arg1462=
NM_001114382.3:c.4516C=	NP_001107854.1:p.Arg1506=
NM_001318827.2:c.4276C=	NP_001305756.1:p.Arg1426=
NM_001318829.2:c.4240C=	NP_001305758.1:p.Arg1414=
NM_001318831.2:c.3853C=	NP_001305760.1:p.Arg1285=
NM_001318832.2:c.4417C=	NP_001305761.1:p.Arg1473=
NM_001363528.2:c.4387C=	NP_001350457.1:p.Arg1463=
NM_021055.3:c.4456C=	NP_066399.2:p.Arg1486=