Canonical Allele Identifier: CA2202018238

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085000A= , CM000678.2:g.2085000A=	GRCh38
NC_000016.9:g.2135001A= , CM000678.1:g.2135001A=	GRCh37
NC_000016.8:g.2075002A=	NCBI36
NG_005895.1:g.40695A= , LRG_487:g.40695A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2892A=	ENSP00000455997.2:n.*2892A=
ENST00000642206.2:c.4390A=	ENSP00000495146.2:p.Asn1464=
ENST00000642365.2:c.4540A=	ENSP00000495459.2:p.Asn1514=
ENST00000644417.2:c.*4923A=	ENSP00000493912.2:n.*4923A=
ENST00000646464.2:c.*7292A=	ENSP00000496610.2:n.*7292A=
ENST00000219476.9:c.4543A= MANE Select	ENSP00000219476.3:p.Asn1515=
ENST00000350773.9:c.4474A=	ENSP00000344383.4:p.Asn1492=
ENST00000401874.7:c.4342A=	ENSP00000384468.2:p.Asn1448=
ENST00000568454.6:c.4375A=	ENSP00000454487.1:p.Asn1459=
ENST00000569110.2:c.766A=
ENST00000569930.2:n.2425A=
ENST00000642365.1:c.3197A=
ENST00000642561.1:c.4414A=	ENSP00000495099.1:p.Asn1472=
ENST00000642728.1:n.725A=
ENST00000642797.1:c.4345A=	ENSP00000493846.1:p.Asn1449=
ENST00000642936.1:c.4411A=	ENSP00000494514.1:p.Asn1471=
ENST00000643088.1:c.4342A=	ENSP00000494747.1:p.Asn1448=
ENST00000643177.1:n.557A=
ENST00000643426.1:n.2191A=
ENST00000643946.1:c.4474A=	ENSP00000495927.1:p.Asn1492=
ENST00000644043.1:c.4414A=	ENSP00000496262.1:p.Asn1472=
ENST00000644329.1:c.4342A=	ENSP00000496611.1:p.Asn1448=
ENST00000644335.1:c.4345A=	ENSP00000496317.1:p.Asn1449=
ENST00000644399.1:c.4464A=
ENST00000645024.1:n.2627A=
ENST00000646388.1:c.4543A=	ENSP00000495921.1:p.Asn1515=
ENST00000646634.1:n.3358A=
ENST00000646674.1:n.1795A=
ENST00000647042.1:n.1766A=
ENST00000647180.1:n.1656A=
ENST00000219476.7:c.4543A=	ENSP00000219476.3:p.Asn1515=
ENST00000350773.8:c.4474A=	ENSP00000344383.4:p.Asn1492=
ENST00000382538.10:c.4198A=	ENSP00000371978.6:p.Asn1400=
ENST00000401874.6:c.4342A=	ENSP00000384468.2:p.Asn1448=
ENST00000439117.6:c.*3710A=	ENSP00000406980.2:n.*3710A=
ENST00000439673.6:c.4234A=	ENSP00000399232.2:p.Asn1412=
ENST00000497886.5:n.2301A=
ENST00000568454.5:c.4375A=	ENSP00000454487.1:p.Asn1459=
ENST00000569110.1:c.725A=
ENST00000569930.1:n.1658A=
NM_000548.3:c.4543A= , LRG_487t1:c.4543A=	NP_000539.2:p.Asn1515=
NM_001077183.1:c.4342A=	NP_001070651.1:p.Asn1448=
NM_001114382.1:c.4474A=	NP_001107854.1:p.Asn1492=
XM_005255529.3:c.4414A=	XP_005255586.2:p.Asn1472=
XM_005255531.3:c.4345A=	XP_005255588.2:p.Asn1449=
XM_011522636.1:c.4597A=	XP_011520938.1:p.Asn1533=
XM_011522637.1:c.4594A=	XP_011520939.1:p.Asn1532=
XM_011522638.1:c.4486A=	XP_011520940.1:p.Asn1496=
XM_011522639.1:c.4468A=	XP_011520941.1:p.Asn1490=
XM_011522640.1:c.4465A=	XP_011520942.1:p.Asn1489=
XM_011522641.1:c.4234A=	XP_011520943.1:p.Asn1412=
NM_000548.4:c.4543A=	NP_000539.2:p.Asn1515=
NM_001077183.2:c.4342A=	NP_001070651.1:p.Asn1448=
NM_001114382.2:c.4474A=	NP_001107854.1:p.Asn1492=
NM_001318827.1:c.4234A=	NP_001305756.1:p.Asn1412=
NM_001318829.1:c.4198A=	NP_001305758.1:p.Asn1400=
NM_001318831.1:c.3811A=	NP_001305760.1:p.Asn1271=
NM_001318832.1:c.4375A=	NP_001305761.1:p.Asn1459=
NM_001363528.1:c.4345A=	NP_001350457.1:p.Asn1449=
NM_021055.2:c.4414A=	NP_066399.2:p.Asn1472=
XM_005255531.4:c.4345A=	XP_005255588.2:p.Asn1449=
XM_011522636.2:c.4597A=	XP_011520938.1:p.Asn1533=
XM_011522637.2:c.4594A=	XP_011520939.1:p.Asn1532=
XM_011522638.2:c.4759A=	XP_011520940.2:p.Asn1587=
XM_011522639.2:c.4468A=	XP_011520941.1:p.Asn1490=
XM_011522640.2:c.4465A=	XP_011520942.1:p.Asn1489=
XM_017023615.1:c.4540A=	XP_016879104.1:p.Asn1514=
XM_017023616.1:c.4411A=	XP_016879105.1:p.Asn1471=
XM_017023617.1:c.4507A=	XP_016879106.1:p.Asn1503=
XM_017023618.1:c.3253A=	XP_016879107.1:p.Asn1085=
XM_024450413.1:c.4342A=	XP_024306181.1:p.Asn1448=
NM_000548.5:c.4543A= MANE Select	NP_000539.2:p.Asn1515=
NM_001370404.1:c.4411A=	NP_001357333.1:p.Asn1471=
NM_001370405.1:c.4414A=	NP_001357334.1:p.Asn1472=
NM_001077183.3:c.4342A=	NP_001070651.1:p.Asn1448=
NM_001114382.3:c.4474A=	NP_001107854.1:p.Asn1492=
NM_001318827.2:c.4234A=	NP_001305756.1:p.Asn1412=
NM_001318829.2:c.4198A=	NP_001305758.1:p.Asn1400=
NM_001318831.2:c.3811A=	NP_001305760.1:p.Asn1271=
NM_001318832.2:c.4375A=	NP_001305761.1:p.Asn1459=
NM_001363528.2:c.4345A=	NP_001350457.1:p.Asn1449=
NM_021055.3:c.4414A=	NP_066399.2:p.Asn1472=