Canonical Allele Identifier: CA2202044844

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084551T= , CM000678.2:g.2084551T=	GRCh38
NC_000016.9:g.2134552T= , CM000678.1:g.2134552T=	GRCh37
NC_000016.8:g.2074553T=	NCBI36
NG_005895.1:g.40246T= , LRG_487:g.40246T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2678T=	ENSP00000455997.2:n.*2678T=
ENST00000642206.2:c.4176T=	ENSP00000495146.2:p.Gly1392=
ENST00000642365.2:c.4326T=	ENSP00000495459.2:p.Gly1442=
ENST00000644417.2:c.*4709T=	ENSP00000493912.2:n.*4709T=
ENST00000646464.2:c.*7078T=	ENSP00000496610.2:n.*7078T=
ENST00000219476.9:c.4329T= MANE Select	ENSP00000219476.3:p.Gly1443=
ENST00000350773.9:c.4260T=	ENSP00000344383.4:p.Gly1420=
ENST00000401874.7:c.4128T=	ENSP00000384468.2:p.Gly1376=
ENST00000568454.6:c.4161T=	ENSP00000454487.1:p.Gly1387=
ENST00000569110.2:c.565T=
ENST00000569930.2:n.2211T=
ENST00000642365.1:c.2983T=
ENST00000642561.1:c.4200T=	ENSP00000495099.1:p.Gly1400=
ENST00000642728.1:n.511T=
ENST00000642797.1:c.4131T=	ENSP00000493846.1:p.Gly1377=
ENST00000642936.1:c.4197T=	ENSP00000494514.1:p.Gly1399=
ENST00000643088.1:c.4128T=	ENSP00000494747.1:p.Gly1376=
ENST00000643177.1:n.343T=
ENST00000643426.1:n.1977T=
ENST00000643946.1:c.4260T=	ENSP00000495927.1:p.Gly1420=
ENST00000644043.1:c.4200T=	ENSP00000496262.1:p.Gly1400=
ENST00000644329.1:c.4128T=	ENSP00000496611.1:p.Gly1376=
ENST00000644335.1:c.4131T=	ENSP00000496317.1:p.Gly1377=
ENST00000644399.1:c.4250T=
ENST00000645024.1:n.2413T=
ENST00000646388.1:c.4329T=	ENSP00000495921.1:p.Gly1443=
ENST00000646634.1:n.3144T=
ENST00000646674.1:n.1581T=
ENST00000647042.1:n.1552T=
ENST00000647180.1:n.1442T=
ENST00000219476.7:c.4329T=	ENSP00000219476.3:p.Gly1443=
ENST00000350773.8:c.4260T=	ENSP00000344383.4:p.Gly1420=
ENST00000382538.10:c.3984T=	ENSP00000371978.6:p.Gly1328=
ENST00000401874.6:c.4128T=	ENSP00000384468.2:p.Gly1376=
ENST00000439117.6:c.*3496T=	ENSP00000406980.2:n.*3496T=
ENST00000439673.6:c.4020T=	ENSP00000399232.2:p.Gly1340=
ENST00000497886.5:n.2087T=
ENST00000568454.5:c.4161T=	ENSP00000454487.1:p.Gly1387=
ENST00000569110.1:c.511T=
ENST00000569930.1:n.1444T=
NM_000548.3:c.4329T= , LRG_487t1:c.4329T=	NP_000539.2:p.Gly1443=
NM_001077183.1:c.4128T=	NP_001070651.1:p.Gly1376=
NM_001114382.1:c.4260T=	NP_001107854.1:p.Gly1420=
XM_005255529.3:c.4200T=	XP_005255586.2:p.Gly1400=
XM_005255531.3:c.4131T=	XP_005255588.2:p.Gly1377=
XM_011522636.1:c.4383T=	XP_011520938.1:p.Gly1461=
XM_011522637.1:c.4380T=	XP_011520939.1:p.Gly1460=
XM_011522638.1:c.4272T=	XP_011520940.1:p.Gly1424=
XM_011522639.1:c.4254T=	XP_011520941.1:p.Gly1418=
XM_011522640.1:c.4251T=	XP_011520942.1:p.Gly1417=
XM_011522641.1:c.4020T=	XP_011520943.1:p.Gly1340=
NM_000548.4:c.4329T=	NP_000539.2:p.Gly1443=
NM_001077183.2:c.4128T=	NP_001070651.1:p.Gly1376=
NM_001114382.2:c.4260T=	NP_001107854.1:p.Gly1420=
NM_001318827.1:c.4020T=	NP_001305756.1:p.Gly1340=
NM_001318829.1:c.3984T=	NP_001305758.1:p.Gly1328=
NM_001318831.1:c.3597T=	NP_001305760.1:p.Gly1199=
NM_001318832.1:c.4161T=	NP_001305761.1:p.Gly1387=
NM_001363528.1:c.4131T=	NP_001350457.1:p.Gly1377=
NM_021055.2:c.4200T=	NP_066399.2:p.Gly1400=
XM_005255531.4:c.4131T=	XP_005255588.2:p.Gly1377=
XM_011522636.2:c.4383T=	XP_011520938.1:p.Gly1461=
XM_011522637.2:c.4380T=	XP_011520939.1:p.Gly1460=
XM_011522638.2:c.4545T=	XP_011520940.2:p.Gly1515=
XM_011522639.2:c.4254T=	XP_011520941.1:p.Gly1418=
XM_011522640.2:c.4251T=	XP_011520942.1:p.Gly1417=
XM_017023615.1:c.4326T=	XP_016879104.1:p.Gly1442=
XM_017023616.1:c.4197T=	XP_016879105.1:p.Gly1399=
XM_017023617.1:c.4293T=	XP_016879106.1:p.Gly1431=
XM_017023618.1:c.3039T=	XP_016879107.1:p.Gly1013=
XM_024450413.1:c.4128T=	XP_024306181.1:p.Gly1376=
NM_000548.5:c.4329T= MANE Select	NP_000539.2:p.Gly1443=
NM_001370404.1:c.4197T=	NP_001357333.1:p.Gly1399=
NM_001370405.1:c.4200T=	NP_001357334.1:p.Gly1400=
NM_001077183.3:c.4128T=	NP_001070651.1:p.Gly1376=
NM_001114382.3:c.4260T=	NP_001107854.1:p.Gly1420=
NM_001318827.2:c.4020T=	NP_001305756.1:p.Gly1340=
NM_001318829.2:c.3984T=	NP_001305758.1:p.Gly1328=
NM_001318831.2:c.3597T=	NP_001305760.1:p.Gly1199=
NM_001318832.2:c.4161T=	NP_001305761.1:p.Gly1387=
NM_001363528.2:c.4131T=	NP_001350457.1:p.Gly1377=
NM_021055.3:c.4200T=	NP_066399.2:p.Gly1400=