Canonical Allele Identifier: CA2202042425

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2083763G= , CM000678.2:g.2083763G=	GRCh38
NC_000016.9:g.2133764G= , CM000678.1:g.2133764G=	GRCh37
NC_000016.8:g.2073765G=	NCBI36
NG_005895.1:g.39458G= , LRG_487:g.39458G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.3952G= MANE Select	NP_000539.2:p.Glu1318=
ENST00000219476.9:c.3952G= MANE Select	ENSP00000219476.3:p.Glu1318=
NM_000548.3:c.3952G= , LRG_487t1:c.3952G=	NP_000539.2:p.Glu1318=
NM_000548.4:c.3952G=	NP_000539.2:p.Glu1318=
NM_001077183.1:c.3751G=	NP_001070651.1:p.Glu1251=
NM_001077183.2:c.3751G=	NP_001070651.1:p.Glu1251=
NM_001077183.3:c.3751G=	NP_001070651.1:p.Glu1251=
NM_001114382.1:c.3883G=	NP_001107854.1:p.Glu1295=
NM_001114382.2:c.3883G=	NP_001107854.1:p.Glu1295=
NM_001114382.3:c.3883G=	NP_001107854.1:p.Glu1295=
NM_001318827.1:c.3643G=	NP_001305756.1:p.Glu1215=
NM_001318827.2:c.3643G=	NP_001305756.1:p.Glu1215=
NM_001318829.1:c.3607G=	NP_001305758.1:p.Glu1203=
NM_001318829.2:c.3607G=	NP_001305758.1:p.Glu1203=
NM_001318831.1:c.3220G=	NP_001305760.1:p.Glu1074=
NM_001318831.2:c.3220G=	NP_001305760.1:p.Glu1074=
NM_001318832.1:c.3784G=	NP_001305761.1:p.Glu1262=
NM_001318832.2:c.3784G=	NP_001305761.1:p.Glu1262=
NM_001363528.1:c.3754G=	NP_001350457.1:p.Glu1252=
NM_001363528.2:c.3754G=	NP_001350457.1:p.Glu1252=
NM_001370404.1:c.3820G=	NP_001357333.1:p.Glu1274=
NM_001370405.1:c.3823G=	NP_001357334.1:p.Glu1275=
NM_021055.2:c.3823G=	NP_066399.2:p.Glu1275=
NM_021055.3:c.3823G=	NP_066399.2:p.Glu1275=
ENST00000219476.7:c.3952G=	ENSP00000219476.3:p.Glu1318=
ENST00000350773.8:c.3883G=	ENSP00000344383.4:p.Glu1295=
ENST00000350773.9:c.3883G=	ENSP00000344383.4:p.Glu1295=
ENST00000382538.10:c.3607G=	ENSP00000371978.6:p.Glu1203=
ENST00000401874.6:c.3751G=	ENSP00000384468.2:p.Glu1251=
ENST00000401874.7:c.3751G=	ENSP00000384468.2:p.Glu1251=
ENST00000439117.6:c.*3119G=	ENSP00000406980.2:n.*3119G=
ENST00000439673.6:c.3643G=	ENSP00000399232.2:p.Glu1215=
ENST00000497886.5:n.1710G=
ENST00000568454.5:c.3784G=	ENSP00000454487.1:p.Glu1262=
ENST00000568454.6:c.3784G=	ENSP00000454487.1:p.Glu1262=
ENST00000568566.6:c.*2301G=	ENSP00000455997.2:n.*2301G=
ENST00000569110.1:c.134G=
ENST00000569110.2:c.188G=
ENST00000569930.1:n.1067G=
ENST00000569930.2:n.1834G=
ENST00000642206.2:c.3799G=	ENSP00000495146.2:p.Glu1267=
ENST00000642365.1:c.2606G=
ENST00000642365.2:c.3949G=	ENSP00000495459.2:p.Glu1317=
ENST00000642561.1:c.3823G=	ENSP00000495099.1:p.Glu1275=
ENST00000642728.1:n.134G=
ENST00000642797.1:c.3754G=	ENSP00000493846.1:p.Glu1252=
ENST00000642936.1:c.3820G=	ENSP00000494514.1:p.Glu1274=
ENST00000643088.1:c.3751G=	ENSP00000494747.1:p.Glu1251=
ENST00000643426.1:n.1600G=
ENST00000643533.1:n.393G=
ENST00000643946.1:c.3883G=	ENSP00000495927.1:p.Glu1295=
ENST00000644043.1:c.3823G=	ENSP00000496262.1:p.Glu1275=
ENST00000644329.1:c.3751G=	ENSP00000496611.1:p.Glu1251=
ENST00000644335.1:c.3754G=	ENSP00000496317.1:p.Glu1252=
ENST00000644399.1:c.3873G=
ENST00000644417.2:c.*4332G=	ENSP00000493912.2:n.*4332G=
ENST00000645024.1:n.2036G=
ENST00000645186.1:c.195G=
ENST00000646388.1:c.3952G=	ENSP00000495921.1:p.Glu1318=
ENST00000646464.2:c.*6701G=	ENSP00000496610.2:n.*6701G=
ENST00000646634.1:n.2767G=
ENST00000646674.1:n.1204G=
ENST00000647042.1:n.1175G=
ENST00000647180.1:n.1065G=
XM_005255529.3:c.3823G=	XP_005255586.2:p.Glu1275=
XM_005255531.3:c.3754G=	XP_005255588.2:p.Glu1252=
XM_005255531.4:c.3754G=	XP_005255588.2:p.Glu1252=
XM_011522636.1:c.4006G=	XP_011520938.1:p.Glu1336=
XM_011522636.2:c.4006G=	XP_011520938.1:p.Glu1336=
XM_011522637.1:c.4003G=	XP_011520939.1:p.Glu1335=
XM_011522637.2:c.4003G=	XP_011520939.1:p.Glu1335=
XM_011522638.1:c.3895G=	XP_011520940.1:p.Glu1299=
XM_011522638.2:c.4168G=	XP_011520940.2:p.Glu1390=
XM_011522639.1:c.3877G=	XP_011520941.1:p.Glu1293=
XM_011522639.2:c.3877G=	XP_011520941.1:p.Glu1293=
XM_011522640.1:c.3874G=	XP_011520942.1:p.Glu1292=
XM_011522640.2:c.3874G=	XP_011520942.1:p.Glu1292=
XM_011522641.1:c.3643G=	XP_011520943.1:p.Glu1215=
XM_017023615.1:c.3949G=	XP_016879104.1:p.Glu1317=
XM_017023616.1:c.3820G=	XP_016879105.1:p.Glu1274=
XM_017023617.1:c.3916G=	XP_016879106.1:p.Glu1306=
XM_017023618.1:c.2662G=	XP_016879107.1:p.Glu888=
XM_024450413.1:c.3751G=	XP_024306181.1:p.Glu1251=