Canonical Allele Identifier: CA2202019251

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085261T= , CM000678.2:g.2085261T=	GRCh38
NC_000016.9:g.2135262T= , CM000678.1:g.2135262T=	GRCh37
NC_000016.8:g.2075263T=	NCBI36
NG_005895.1:g.40956T= , LRG_487:g.40956T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2950T=	ENSP00000455997.2:n.*2950T=
ENST00000642206.2:c.4448T=	ENSP00000495146.2:p.Leu1483=
ENST00000642365.2:c.4598T=	ENSP00000495459.2:p.Leu1533=
ENST00000644417.2:c.*4981T=	ENSP00000493912.2:n.*4981T=
ENST00000646464.2:c.*7350T=	ENSP00000496610.2:n.*7350T=
ENST00000219476.9:c.4601T= MANE Select	ENSP00000219476.3:p.Leu1534=
ENST00000350773.9:c.4532T=	ENSP00000344383.4:p.Leu1511=
ENST00000401874.7:c.4400T=	ENSP00000384468.2:p.Leu1467=
ENST00000568454.6:c.4433T=	ENSP00000454487.1:p.Leu1478=
ENST00000569110.2:c.824T=
ENST00000569930.2:n.2483T=
ENST00000642365.1:c.3255T=
ENST00000642561.1:c.4472T=	ENSP00000495099.1:p.Leu1491=
ENST00000642728.1:n.783T=
ENST00000642791.1:n.198T=
ENST00000642797.1:c.4403T=	ENSP00000493846.1:p.Leu1468=
ENST00000642936.1:c.4469T=	ENSP00000494514.1:p.Leu1490=
ENST00000643088.1:c.4394T=	ENSP00000494747.1:p.Leu1465=
ENST00000643177.1:n.615T=
ENST00000643426.1:n.2249T=
ENST00000643946.1:c.4526T=	ENSP00000495927.1:p.Leu1509=
ENST00000644043.1:c.4472T=	ENSP00000496262.1:p.Leu1491=
ENST00000644278.1:n.83T=
ENST00000644329.1:c.4400T=	ENSP00000496611.1:p.Leu1467=
ENST00000644335.1:c.4397T=	ENSP00000496317.1:p.Leu1466=
ENST00000644399.1:c.4522T=
ENST00000645024.1:n.2685T=
ENST00000646388.1:c.4595T=	ENSP00000495921.1:p.Leu1532=
ENST00000646634.1:n.3416T=
ENST00000646674.1:n.1853T=
ENST00000647042.1:n.1824T=
ENST00000647180.1:n.1714T=
ENST00000219476.7:c.4601T=	ENSP00000219476.3:p.Leu1534=
ENST00000350773.8:c.4532T=	ENSP00000344383.4:p.Leu1511=
ENST00000382538.10:c.4256T=	ENSP00000371978.6:p.Leu1419=
ENST00000401874.6:c.4400T=	ENSP00000384468.2:p.Leu1467=
ENST00000439117.6:c.*3768T=	ENSP00000406980.2:n.*3768T=
ENST00000439673.6:c.4292T=	ENSP00000399232.2:p.Leu1431=
ENST00000497886.5:n.2359T=
ENST00000568454.5:c.4433T=	ENSP00000454487.1:p.Leu1478=
ENST00000569110.1:c.783T=
ENST00000569930.1:n.1716T=
NM_000548.3:c.4601T= , LRG_487t1:c.4601T=	NP_000539.2:p.Leu1534=
NM_001077183.1:c.4400T=	NP_001070651.1:p.Leu1467=
NM_001114382.1:c.4532T=	NP_001107854.1:p.Leu1511=
XM_005255529.3:c.4472T=	XP_005255586.2:p.Leu1491=
XM_005255531.3:c.4403T=	XP_005255588.2:p.Leu1468=
XM_011522636.1:c.4655T=	XP_011520938.1:p.Leu1552=
XM_011522637.1:c.4652T=	XP_011520939.1:p.Leu1551=
XM_011522638.1:c.4544T=	XP_011520940.1:p.Leu1515=
XM_011522639.1:c.4526T=	XP_011520941.1:p.Leu1509=
XM_011522640.1:c.4523T=	XP_011520942.1:p.Leu1508=
XM_011522641.1:c.4292T=	XP_011520943.1:p.Leu1431=
NM_000548.4:c.4601T=	NP_000539.2:p.Leu1534=
NM_001077183.2:c.4400T=	NP_001070651.1:p.Leu1467=
NM_001114382.2:c.4532T=	NP_001107854.1:p.Leu1511=
NM_001318827.1:c.4292T=	NP_001305756.1:p.Leu1431=
NM_001318829.1:c.4256T=	NP_001305758.1:p.Leu1419=
NM_001318831.1:c.3869T=	NP_001305760.1:p.Leu1290=
NM_001318832.1:c.4433T=	NP_001305761.1:p.Leu1478=
NM_001363528.1:c.4403T=	NP_001350457.1:p.Leu1468=
NM_021055.2:c.4472T=	NP_066399.2:p.Leu1491=
XM_005255531.4:c.4403T=	XP_005255588.2:p.Leu1468=
XM_011522636.2:c.4655T=	XP_011520938.1:p.Leu1552=
XM_011522637.2:c.4652T=	XP_011520939.1:p.Leu1551=
XM_011522638.2:c.4817T=	XP_011520940.2:p.Leu1606=
XM_011522639.2:c.4526T=	XP_011520941.1:p.Leu1509=
XM_011522640.2:c.4523T=	XP_011520942.1:p.Leu1508=
XM_017023615.1:c.4598T=	XP_016879104.1:p.Leu1533=
XM_017023616.1:c.4469T=	XP_016879105.1:p.Leu1490=
XM_017023617.1:c.4565T=	XP_016879106.1:p.Leu1522=
XM_017023618.1:c.3311T=	XP_016879107.1:p.Leu1104=
XM_024450413.1:c.4400T=	XP_024306181.1:p.Leu1467=
NM_000548.5:c.4601T= MANE Select	NP_000539.2:p.Leu1534=
NM_001370404.1:c.4469T=	NP_001357333.1:p.Leu1490=
NM_001370405.1:c.4472T=	NP_001357334.1:p.Leu1491=
NM_001077183.3:c.4400T=	NP_001070651.1:p.Leu1467=
NM_001114382.3:c.4532T=	NP_001107854.1:p.Leu1511=
NM_001318827.2:c.4292T=	NP_001305756.1:p.Leu1431=
NM_001318829.2:c.4256T=	NP_001305758.1:p.Leu1419=
NM_001318831.2:c.3869T=	NP_001305760.1:p.Leu1290=
NM_001318832.2:c.4433T=	NP_001305761.1:p.Leu1478=
NM_001363528.2:c.4403T=	NP_001350457.1:p.Leu1468=
NM_021055.3:c.4472T=	NP_066399.2:p.Leu1491=