Canonical Allele Identifier: CA2202044847

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084552C= , CM000678.2:g.2084552C=	GRCh38
NC_000016.9:g.2134553C= , CM000678.1:g.2134553C=	GRCh37
NC_000016.8:g.2074554C=	NCBI36
NG_005895.1:g.40247C= , LRG_487:g.40247C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2679C=	ENSP00000455997.2:n.*2679C=
ENST00000642206.2:c.4177C=	ENSP00000495146.2:p.Pro1393=
ENST00000642365.2:c.4327C=	ENSP00000495459.2:p.Pro1443=
ENST00000644417.2:c.*4710C=	ENSP00000493912.2:n.*4710C=
ENST00000646464.2:c.*7079C=	ENSP00000496610.2:n.*7079C=
ENST00000219476.9:c.4330C= MANE Select	ENSP00000219476.3:p.Pro1444=
ENST00000350773.9:c.4261C=	ENSP00000344383.4:p.Pro1421=
ENST00000401874.7:c.4129C=	ENSP00000384468.2:p.Pro1377=
ENST00000568454.6:c.4162C=	ENSP00000454487.1:p.Pro1388=
ENST00000569110.2:c.566C=
ENST00000569930.2:n.2212C=
ENST00000642365.1:c.2984C=
ENST00000642561.1:c.4201C=	ENSP00000495099.1:p.Pro1401=
ENST00000642728.1:n.512C=
ENST00000642797.1:c.4132C=	ENSP00000493846.1:p.Pro1378=
ENST00000642936.1:c.4198C=	ENSP00000494514.1:p.Pro1400=
ENST00000643088.1:c.4129C=	ENSP00000494747.1:p.Pro1377=
ENST00000643177.1:n.344C=
ENST00000643426.1:n.1978C=
ENST00000643946.1:c.4261C=	ENSP00000495927.1:p.Pro1421=
ENST00000644043.1:c.4201C=	ENSP00000496262.1:p.Pro1401=
ENST00000644329.1:c.4129C=	ENSP00000496611.1:p.Pro1377=
ENST00000644335.1:c.4132C=	ENSP00000496317.1:p.Pro1378=
ENST00000644399.1:c.4251C=
ENST00000645024.1:n.2414C=
ENST00000646388.1:c.4330C=	ENSP00000495921.1:p.Pro1444=
ENST00000646634.1:n.3145C=
ENST00000646674.1:n.1582C=
ENST00000647042.1:n.1553C=
ENST00000647180.1:n.1443C=
ENST00000219476.7:c.4330C=	ENSP00000219476.3:p.Pro1444=
ENST00000350773.8:c.4261C=	ENSP00000344383.4:p.Pro1421=
ENST00000382538.10:c.3985C=	ENSP00000371978.6:p.Pro1329=
ENST00000401874.6:c.4129C=	ENSP00000384468.2:p.Pro1377=
ENST00000439117.6:c.*3497C=	ENSP00000406980.2:n.*3497C=
ENST00000439673.6:c.4021C=	ENSP00000399232.2:p.Pro1341=
ENST00000497886.5:n.2088C=
ENST00000568454.5:c.4162C=	ENSP00000454487.1:p.Pro1388=
ENST00000569110.1:c.512C=
ENST00000569930.1:n.1445C=
NM_000548.3:c.4330C= , LRG_487t1:c.4330C=	NP_000539.2:p.Pro1444=
NM_001077183.1:c.4129C=	NP_001070651.1:p.Pro1377=
NM_001114382.1:c.4261C=	NP_001107854.1:p.Pro1421=
XM_005255529.3:c.4201C=	XP_005255586.2:p.Pro1401=
XM_005255531.3:c.4132C=	XP_005255588.2:p.Pro1378=
XM_011522636.1:c.4384C=	XP_011520938.1:p.Pro1462=
XM_011522637.1:c.4381C=	XP_011520939.1:p.Pro1461=
XM_011522638.1:c.4273C=	XP_011520940.1:p.Pro1425=
XM_011522639.1:c.4255C=	XP_011520941.1:p.Pro1419=
XM_011522640.1:c.4252C=	XP_011520942.1:p.Pro1418=
XM_011522641.1:c.4021C=	XP_011520943.1:p.Pro1341=
NM_000548.4:c.4330C=	NP_000539.2:p.Pro1444=
NM_001077183.2:c.4129C=	NP_001070651.1:p.Pro1377=
NM_001114382.2:c.4261C=	NP_001107854.1:p.Pro1421=
NM_001318827.1:c.4021C=	NP_001305756.1:p.Pro1341=
NM_001318829.1:c.3985C=	NP_001305758.1:p.Pro1329=
NM_001318831.1:c.3598C=	NP_001305760.1:p.Pro1200=
NM_001318832.1:c.4162C=	NP_001305761.1:p.Pro1388=
NM_001363528.1:c.4132C=	NP_001350457.1:p.Pro1378=
NM_021055.2:c.4201C=	NP_066399.2:p.Pro1401=
XM_005255531.4:c.4132C=	XP_005255588.2:p.Pro1378=
XM_011522636.2:c.4384C=	XP_011520938.1:p.Pro1462=
XM_011522637.2:c.4381C=	XP_011520939.1:p.Pro1461=
XM_011522638.2:c.4546C=	XP_011520940.2:p.Pro1516=
XM_011522639.2:c.4255C=	XP_011520941.1:p.Pro1419=
XM_011522640.2:c.4252C=	XP_011520942.1:p.Pro1418=
XM_017023615.1:c.4327C=	XP_016879104.1:p.Pro1443=
XM_017023616.1:c.4198C=	XP_016879105.1:p.Pro1400=
XM_017023617.1:c.4294C=	XP_016879106.1:p.Pro1432=
XM_017023618.1:c.3040C=	XP_016879107.1:p.Pro1014=
XM_024450413.1:c.4129C=	XP_024306181.1:p.Pro1377=
NM_000548.5:c.4330C= MANE Select	NP_000539.2:p.Pro1444=
NM_001370404.1:c.4198C=	NP_001357333.1:p.Pro1400=
NM_001370405.1:c.4201C=	NP_001357334.1:p.Pro1401=
NM_001077183.3:c.4129C=	NP_001070651.1:p.Pro1377=
NM_001114382.3:c.4261C=	NP_001107854.1:p.Pro1421=
NM_001318827.2:c.4021C=	NP_001305756.1:p.Pro1341=
NM_001318829.2:c.3985C=	NP_001305758.1:p.Pro1329=
NM_001318831.2:c.3598C=	NP_001305760.1:p.Pro1200=
NM_001318832.2:c.4162C=	NP_001305761.1:p.Pro1388=
NM_001363528.2:c.4132C=	NP_001350457.1:p.Pro1378=
NM_021055.3:c.4201C=	NP_066399.2:p.Pro1401=