Canonical Allele Identifier: CA493043362

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084963G>A , CM000678.2:g.2084963G>A	GRCh38
NC_000016.9:g.2134964G>A , CM000678.1:g.2134964G>A	GRCh37
NC_000016.8:g.2074965G>A	NCBI36
NG_005895.1:g.40658G>A , LRG_487:g.40658G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2855G>A	ENSP00000455997.2:n.*2855G>A
ENST00000642206.2:c.4353G>A	ENSP00000495146.2:p.Leu1451=
ENST00000642365.2:c.4503G>A	ENSP00000495459.2:p.Leu1501=
ENST00000644417.2:c.*4886G>A	ENSP00000493912.2:n.*4886G>A
ENST00000646464.2:c.*7255G>A	ENSP00000496610.2:n.*7255G>A
ENST00000219476.9:c.4506G>A MANE Select	ENSP00000219476.3:p.Leu1502=
ENST00000350773.9:c.4437G>A	ENSP00000344383.4:p.Leu1479=
ENST00000401874.7:c.4305G>A	ENSP00000384468.2:p.Leu1435=
ENST00000568454.6:c.4338G>A	ENSP00000454487.1:p.Leu1446=
ENST00000569110.2:c.729G>A
ENST00000569930.2:n.2388G>A
ENST00000642365.1:c.3160G>A
ENST00000642561.1:c.4377G>A	ENSP00000495099.1:p.Leu1459=
ENST00000642728.1:n.688G>A
ENST00000642797.1:c.4308G>A	ENSP00000493846.1:p.Leu1436=
ENST00000642936.1:c.4374G>A	ENSP00000494514.1:p.Leu1458=
ENST00000643088.1:c.4305G>A	ENSP00000494747.1:p.Leu1435=
ENST00000643177.1:n.520G>A
ENST00000643426.1:n.2154G>A
ENST00000643946.1:c.4437G>A	ENSP00000495927.1:p.Leu1479=
ENST00000644043.1:c.4377G>A	ENSP00000496262.1:p.Leu1459=
ENST00000644329.1:c.4305G>A	ENSP00000496611.1:p.Leu1435=
ENST00000644335.1:c.4308G>A	ENSP00000496317.1:p.Leu1436=
ENST00000644399.1:c.4427G>A
ENST00000645024.1:n.2590G>A
ENST00000646388.1:c.4506G>A	ENSP00000495921.1:p.Leu1502=
ENST00000646634.1:n.3321G>A
ENST00000646674.1:n.1758G>A
ENST00000647042.1:n.1729G>A
ENST00000647180.1:n.1619G>A
ENST00000219476.7:c.4506G>A	ENSP00000219476.3:p.Leu1502=
ENST00000350773.8:c.4437G>A	ENSP00000344383.4:p.Leu1479=
ENST00000382538.10:c.4161G>A	ENSP00000371978.6:p.Leu1387=
ENST00000401874.6:c.4305G>A	ENSP00000384468.2:p.Leu1435=
ENST00000439117.6:c.*3673G>A	ENSP00000406980.2:n.*3673G>A
ENST00000439673.6:c.4197G>A	ENSP00000399232.2:p.Leu1399=
ENST00000497886.5:n.2264G>A
ENST00000568454.5:c.4338G>A	ENSP00000454487.1:p.Leu1446=
ENST00000569110.1:c.688G>A
ENST00000569930.1:n.1621G>A
NM_000548.3:c.4506G>A , LRG_487t1:c.4506G>A	NP_000539.2:p.Leu1502=
NM_001077183.1:c.4305G>A	NP_001070651.1:p.Leu1435=
NM_001114382.1:c.4437G>A	NP_001107854.1:p.Leu1479=
XM_005255529.3:c.4377G>A	XP_005255586.2:p.Leu1459=
XM_005255531.3:c.4308G>A	XP_005255588.2:p.Leu1436=
XM_011522636.1:c.4560G>A	XP_011520938.1:p.Leu1520=
XM_011522637.1:c.4557G>A	XP_011520939.1:p.Leu1519=
XM_011522638.1:c.4449G>A	XP_011520940.1:p.Leu1483=
XM_011522639.1:c.4431G>A	XP_011520941.1:p.Leu1477=
XM_011522640.1:c.4428G>A	XP_011520942.1:p.Leu1476=
XM_011522641.1:c.4197G>A	XP_011520943.1:p.Leu1399=
NM_000548.4:c.4506G>A	NP_000539.2:p.Leu1502=
NM_001077183.2:c.4305G>A	NP_001070651.1:p.Leu1435=
NM_001114382.2:c.4437G>A	NP_001107854.1:p.Leu1479=
NM_001318827.1:c.4197G>A	NP_001305756.1:p.Leu1399=
NM_001318829.1:c.4161G>A	NP_001305758.1:p.Leu1387=
NM_001318831.1:c.3774G>A	NP_001305760.1:p.Leu1258=
NM_001318832.1:c.4338G>A	NP_001305761.1:p.Leu1446=
NM_001363528.1:c.4308G>A	NP_001350457.1:p.Leu1436=
NM_021055.2:c.4377G>A	NP_066399.2:p.Leu1459=
XM_005255531.4:c.4308G>A	XP_005255588.2:p.Leu1436=
XM_011522636.2:c.4560G>A	XP_011520938.1:p.Leu1520=
XM_011522637.2:c.4557G>A	XP_011520939.1:p.Leu1519=
XM_011522638.2:c.4722G>A	XP_011520940.2:p.Leu1574=
XM_011522639.2:c.4431G>A	XP_011520941.1:p.Leu1477=
XM_011522640.2:c.4428G>A	XP_011520942.1:p.Leu1476=
XM_017023615.1:c.4503G>A	XP_016879104.1:p.Leu1501=
XM_017023616.1:c.4374G>A	XP_016879105.1:p.Leu1458=
XM_017023617.1:c.4470G>A	XP_016879106.1:p.Leu1490=
XM_017023618.1:c.3216G>A	XP_016879107.1:p.Leu1072=
XM_024450413.1:c.4305G>A	XP_024306181.1:p.Leu1435=
NM_000548.5:c.4506G>A MANE Select	NP_000539.2:p.Leu1502=
NM_001370404.1:c.4374G>A	NP_001357333.1:p.Leu1458=
NM_001370405.1:c.4377G>A	NP_001357334.1:p.Leu1459=
NM_001077183.3:c.4305G>A	NP_001070651.1:p.Leu1435=
NM_001114382.3:c.4437G>A	NP_001107854.1:p.Leu1479=
NM_001318827.2:c.4197G>A	NP_001305756.1:p.Leu1399=
NM_001318829.2:c.4161G>A	NP_001305758.1:p.Leu1387=
NM_001318831.2:c.3774G>A	NP_001305760.1:p.Leu1258=
NM_001318832.2:c.4338G>A	NP_001305761.1:p.Leu1446=
NM_001363528.2:c.4308G>A	NP_001350457.1:p.Leu1436=
NM_021055.3:c.4377G>A	NP_066399.2:p.Leu1459=