Canonical Allele Identifier: CA2202031914

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088264C= , CM000678.2:g.2088264C=	GRCh38
NC_000016.9:g.2138265C= , CM000678.1:g.2138265C=	GRCh37
NC_000016.8:g.2078266C=	NCBI36
NG_005895.1:g.43959C= , LRG_487:g.43959C=
NG_008617.1:g.54957G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3547C=	ENSP00000455997.2:n.*3547C=
ENST00000642206.2:c.5045C=	ENSP00000495146.2:p.Thr1682=
ENST00000642365.2:c.5195C=	ENSP00000495459.2:p.Thr1732=
ENST00000644417.2:c.*5711C=	ENSP00000493912.2:n.*5711C=
ENST00000646464.2:c.*7947C=	ENSP00000496610.2:n.*7947C=
ENST00000219476.9:c.5198C= MANE Select	ENSP00000219476.3:p.Thr1733=
ENST00000350773.9:c.5129C=	ENSP00000344383.4:p.Thr1710=
ENST00000401874.7:c.4997C=	ENSP00000384468.2:p.Thr1666=
ENST00000568454.6:c.5030C=	ENSP00000454487.1:p.Thr1677=
ENST00000569110.2:c.1421C=
ENST00000569930.2:n.3080C=
ENST00000642365.1:c.3852C=
ENST00000642561.1:c.5057C=	ENSP00000495099.1:p.Thr1686=
ENST00000642791.1:n.795C=
ENST00000642797.1:c.5000C=	ENSP00000493846.1:p.Thr1667=
ENST00000642936.1:c.5066C=	ENSP00000494514.1:p.Thr1689=
ENST00000643088.1:c.4991C=	ENSP00000494747.1:p.Thr1664=
ENST00000643426.1:n.2846C=
ENST00000643946.1:c.5123C=	ENSP00000495927.1:p.Thr1708=
ENST00000644043.1:c.5069C=	ENSP00000496262.1:p.Thr1690=
ENST00000644329.1:c.5084C=	ENSP00000496611.1:p.Thr1695=
ENST00000644335.1:c.4994C=	ENSP00000496317.1:p.Thr1665=
ENST00000644399.1:c.5119C=
ENST00000645024.1:n.3282C=
ENST00000646388.1:c.5192C=	ENSP00000495921.1:p.Thr1731=
ENST00000646634.1:n.4013C=
ENST00000646674.1:n.2450C=
ENST00000647042.1:n.2421C=
ENST00000647180.1:n.2311C=
ENST00000219476.7:c.5198C=	ENSP00000219476.3:p.Thr1733=
ENST00000350773.8:c.5129C=	ENSP00000344383.4:p.Thr1710=
ENST00000382538.10:c.4853C=	ENSP00000371978.6:p.Thr1618=
ENST00000401874.6:c.4997C=	ENSP00000384468.2:p.Thr1666=
ENST00000439117.6:c.*4365C=	ENSP00000406980.2:n.*4365C=
ENST00000439673.6:c.4889C=	ENSP00000399232.2:p.Thr1630=
ENST00000497886.5:n.2921C=
ENST00000568454.5:c.5030C=	ENSP00000454487.1:p.Thr1677=
ENST00000569110.1:c.1380C=
ENST00000569930.1:n.2313C=
NM_000548.3:c.5198C= , LRG_487t1:c.5198C=	NP_000539.2:p.Thr1733=
NM_001077183.1:c.4997C=	NP_001070651.1:p.Thr1666=
NM_001114382.1:c.5129C=	NP_001107854.1:p.Thr1710=
XM_005255529.3:c.5069C=	XP_005255586.2:p.Thr1690=
XM_005255531.3:c.5000C=	XP_005255588.2:p.Thr1667=
XM_011522636.1:c.5252C=	XP_011520938.1:p.Thr1751=
XM_011522637.1:c.5249C=	XP_011520939.1:p.Thr1750=
XM_011522638.1:c.5141C=	XP_011520940.1:p.Thr1714=
XM_011522639.1:c.5123C=	XP_011520941.1:p.Thr1708=
XM_011522640.1:c.5120C=	XP_011520942.1:p.Thr1707=
XM_011522641.1:c.4889C=	XP_011520943.1:p.Thr1630=
NM_000548.4:c.5198C=	NP_000539.2:p.Thr1733=
NM_001077183.2:c.4997C=	NP_001070651.1:p.Thr1666=
NM_001114382.2:c.5129C=	NP_001107854.1:p.Thr1710=
NM_001318827.1:c.4889C=	NP_001305756.1:p.Thr1630=
NM_001318829.1:c.4853C=	NP_001305758.1:p.Thr1618=
NM_001318831.1:c.4466C=	NP_001305760.1:p.Thr1489=
NM_001318832.1:c.5030C=	NP_001305761.1:p.Thr1677=
NM_001363528.1:c.5000C=	NP_001350457.1:p.Thr1667=
NM_021055.2:c.5069C=	NP_066399.2:p.Thr1690=
XM_005255531.4:c.5000C=	XP_005255588.2:p.Thr1667=
XM_011522636.2:c.5252C=	XP_011520938.1:p.Thr1751=
XM_011522637.2:c.5249C=	XP_011520939.1:p.Thr1750=
XM_011522638.2:c.5414C=	XP_011520940.2:p.Thr1805=
XM_011522639.2:c.5123C=	XP_011520941.1:p.Thr1708=
XM_011522640.2:c.5120C=	XP_011520942.1:p.Thr1707=
XM_017023615.1:c.5195C=	XP_016879104.1:p.Thr1732=
XM_017023616.1:c.5066C=	XP_016879105.1:p.Thr1689=
XM_017023617.1:c.5162C=	XP_016879106.1:p.Thr1721=
XM_017023618.1:c.3908C=	XP_016879107.1:p.Thr1303=
XM_024450413.1:c.5084C=	XP_024306181.1:p.Thr1695=
NM_000548.5:c.5198C= MANE Select	NP_000539.2:p.Thr1733=
NM_001370404.1:c.5066C=	NP_001357333.1:p.Thr1689=
NM_001370405.1:c.5057C=	NP_001357334.1:p.Thr1686=
NM_001077183.3:c.4997C=	NP_001070651.1:p.Thr1666=
NM_001114382.3:c.5129C=	NP_001107854.1:p.Thr1710=
NM_001318827.2:c.4889C=	NP_001305756.1:p.Thr1630=
NM_001318829.2:c.4853C=	NP_001305758.1:p.Thr1618=
NM_001318831.2:c.4466C=	NP_001305760.1:p.Thr1489=
NM_001318832.2:c.5030C=	NP_001305761.1:p.Thr1677=
NM_001363528.2:c.5000C=	NP_001350457.1:p.Thr1667=
NM_021055.3:c.5069C=	NP_066399.2:p.Thr1690=