Canonical Allele Identifier: CA2202043342

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084228T= , CM000678.2:g.2084228T=	GRCh38
NC_000016.9:g.2134229T= , CM000678.1:g.2134229T=	GRCh37
NC_000016.8:g.2074230T=	NCBI36
NG_005895.1:g.39923T= , LRG_487:g.39923T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2355T=	ENSP00000455997.2:n.*2355T=
ENST00000642206.2:c.3853T=	ENSP00000495146.2:p.Ser1285=
ENST00000642365.2:c.4003T=	ENSP00000495459.2:p.Ser1335=
ENST00000644417.2:c.*4386T=	ENSP00000493912.2:n.*4386T=
ENST00000646464.2:c.*6755T=	ENSP00000496610.2:n.*6755T=
ENST00000219476.9:c.4006T= MANE Select	ENSP00000219476.3:p.Ser1336=
ENST00000350773.9:c.3937T=	ENSP00000344383.4:p.Ser1313=
ENST00000401874.7:c.3805T=	ENSP00000384468.2:p.Ser1269=
ENST00000568454.6:c.3838T=	ENSP00000454487.1:p.Ser1280=
ENST00000569110.2:c.242T=
ENST00000569930.2:n.1888T=
ENST00000642365.1:c.2660T=
ENST00000642561.1:c.3877T=	ENSP00000495099.1:p.Ser1293=
ENST00000642728.1:n.188T=
ENST00000642797.1:c.3808T=	ENSP00000493846.1:p.Ser1270=
ENST00000642936.1:c.3874T=	ENSP00000494514.1:p.Ser1292=
ENST00000643088.1:c.3805T=	ENSP00000494747.1:p.Ser1269=
ENST00000643177.1:n.20T=
ENST00000643426.1:n.1654T=
ENST00000643533.1:n.447T=
ENST00000643946.1:c.3937T=	ENSP00000495927.1:p.Ser1313=
ENST00000644043.1:c.3877T=	ENSP00000496262.1:p.Ser1293=
ENST00000644329.1:c.3805T=	ENSP00000496611.1:p.Ser1269=
ENST00000644335.1:c.3808T=	ENSP00000496317.1:p.Ser1270=
ENST00000644399.1:c.3927T=
ENST00000645024.1:n.2090T=
ENST00000645186.1:c.249T=
ENST00000646388.1:c.4006T=	ENSP00000495921.1:p.Ser1336=
ENST00000646634.1:n.2821T=
ENST00000646674.1:n.1258T=
ENST00000647042.1:n.1229T=
ENST00000647180.1:n.1119T=
ENST00000219476.7:c.4006T=	ENSP00000219476.3:p.Ser1336=
ENST00000350773.8:c.3937T=	ENSP00000344383.4:p.Ser1313=
ENST00000382538.10:c.3661T=	ENSP00000371978.6:p.Ser1221=
ENST00000401874.6:c.3805T=	ENSP00000384468.2:p.Ser1269=
ENST00000439117.6:c.*3173T=	ENSP00000406980.2:n.*3173T=
ENST00000439673.6:c.3697T=	ENSP00000399232.2:p.Ser1233=
ENST00000497886.5:n.1764T=
ENST00000568454.5:c.3838T=	ENSP00000454487.1:p.Ser1280=
ENST00000569110.1:c.188T=
ENST00000569930.1:n.1121T=
NM_000548.3:c.4006T= , LRG_487t1:c.4006T=	NP_000539.2:p.Ser1336=
NM_001077183.1:c.3805T=	NP_001070651.1:p.Ser1269=
NM_001114382.1:c.3937T=	NP_001107854.1:p.Ser1313=
XM_005255529.3:c.3877T=	XP_005255586.2:p.Ser1293=
XM_005255531.3:c.3808T=	XP_005255588.2:p.Ser1270=
XM_011522636.1:c.4060T=	XP_011520938.1:p.Ser1354=
XM_011522637.1:c.4057T=	XP_011520939.1:p.Ser1353=
XM_011522638.1:c.3949T=	XP_011520940.1:p.Ser1317=
XM_011522639.1:c.3931T=	XP_011520941.1:p.Ser1311=
XM_011522640.1:c.3928T=	XP_011520942.1:p.Ser1310=
XM_011522641.1:c.3697T=	XP_011520943.1:p.Ser1233=
NM_000548.4:c.4006T=	NP_000539.2:p.Ser1336=
NM_001077183.2:c.3805T=	NP_001070651.1:p.Ser1269=
NM_001114382.2:c.3937T=	NP_001107854.1:p.Ser1313=
NM_001318827.1:c.3697T=	NP_001305756.1:p.Ser1233=
NM_001318829.1:c.3661T=	NP_001305758.1:p.Ser1221=
NM_001318831.1:c.3274T=	NP_001305760.1:p.Ser1092=
NM_001318832.1:c.3838T=	NP_001305761.1:p.Ser1280=
NM_001363528.1:c.3808T=	NP_001350457.1:p.Ser1270=
NM_021055.2:c.3877T=	NP_066399.2:p.Ser1293=
XM_005255531.4:c.3808T=	XP_005255588.2:p.Ser1270=
XM_011522636.2:c.4060T=	XP_011520938.1:p.Ser1354=
XM_011522637.2:c.4057T=	XP_011520939.1:p.Ser1353=
XM_011522638.2:c.4222T=	XP_011520940.2:p.Ser1408=
XM_011522639.2:c.3931T=	XP_011520941.1:p.Ser1311=
XM_011522640.2:c.3928T=	XP_011520942.1:p.Ser1310=
XM_017023615.1:c.4003T=	XP_016879104.1:p.Ser1335=
XM_017023616.1:c.3874T=	XP_016879105.1:p.Ser1292=
XM_017023617.1:c.3970T=	XP_016879106.1:p.Ser1324=
XM_017023618.1:c.2716T=	XP_016879107.1:p.Ser906=
XM_024450413.1:c.3805T=	XP_024306181.1:p.Ser1269=
NM_000548.5:c.4006T= MANE Select	NP_000539.2:p.Ser1336=
NM_001370404.1:c.3874T=	NP_001357333.1:p.Ser1292=
NM_001370405.1:c.3877T=	NP_001357334.1:p.Ser1293=
NM_001077183.3:c.3805T=	NP_001070651.1:p.Ser1269=
NM_001114382.3:c.3937T=	NP_001107854.1:p.Ser1313=
NM_001318827.2:c.3697T=	NP_001305756.1:p.Ser1233=
NM_001318829.2:c.3661T=	NP_001305758.1:p.Ser1221=
NM_001318831.2:c.3274T=	NP_001305760.1:p.Ser1092=
NM_001318832.2:c.3838T=	NP_001305761.1:p.Ser1280=
NM_001363528.2:c.3808T=	NP_001350457.1:p.Ser1270=
NM_021055.3:c.3877T=	NP_066399.2:p.Ser1293=