Canonical Allele Identifier: CA2202034263

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088558G= , CM000678.2:g.2088558G=	GRCh38
NC_000016.9:g.2138559G= , CM000678.1:g.2138559G=	GRCh37
NC_000016.8:g.2078560G=	NCBI36
NG_005895.1:g.44253G= , LRG_487:g.44253G=
NG_008617.1:g.54663C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3721G=	ENSP00000455997.2:n.*3721G=
ENST00000642206.2:c.5219G=	ENSP00000495146.2:p.Gly1740=
ENST00000642365.2:c.5369G=	ENSP00000495459.2:p.Gly1790=
ENST00000644417.2:c.*5885G=	ENSP00000493912.2:n.*5885G=
ENST00000646464.2:c.*8121G=	ENSP00000496610.2:n.*8121G=
ENST00000219476.9:c.5372G= MANE Select	ENSP00000219476.3:p.Gly1791=
ENST00000350773.9:c.5303G=	ENSP00000344383.4:p.Gly1768=
ENST00000401874.7:c.5171G=	ENSP00000384468.2:p.Gly1724=
ENST00000568454.6:c.5204G=	ENSP00000454487.1:p.Gly1735=
ENST00000569110.2:c.1595G=
ENST00000569930.2:n.3254G=
ENST00000642365.1:c.4026G=
ENST00000642561.1:c.5231G=	ENSP00000495099.1:p.Gly1744=
ENST00000642791.1:n.969G=
ENST00000642797.1:c.5174G=	ENSP00000493846.1:p.Gly1725=
ENST00000642936.1:c.5240G=	ENSP00000494514.1:p.Gly1747=
ENST00000643088.1:c.5165G=	ENSP00000494747.1:p.Gly1722=
ENST00000643426.1:n.3020G=
ENST00000643946.1:c.5297G=	ENSP00000495927.1:p.Gly1766=
ENST00000644043.1:c.5243G=	ENSP00000496262.1:p.Gly1748=
ENST00000644329.1:c.5258G=	ENSP00000496611.1:p.Gly1753=
ENST00000644335.1:c.5168G=	ENSP00000496317.1:p.Gly1723=
ENST00000644399.1:c.5293G=
ENST00000645024.1:n.3456G=
ENST00000646388.1:c.5366G=	ENSP00000495921.1:p.Gly1789=
ENST00000646634.1:n.4187G=
ENST00000646674.1:n.2624G=
ENST00000647042.1:n.2595G=
ENST00000647180.1:n.2485G=
ENST00000219476.7:c.5372G=	ENSP00000219476.3:p.Gly1791=
ENST00000350773.8:c.5303G=	ENSP00000344383.4:p.Gly1768=
ENST00000382538.10:c.5027G=	ENSP00000371978.6:p.Gly1676=
ENST00000401874.6:c.5171G=	ENSP00000384468.2:p.Gly1724=
ENST00000439117.6:c.*4539G=	ENSP00000406980.2:n.*4539G=
ENST00000439673.6:c.5063G=	ENSP00000399232.2:p.Gly1688=
ENST00000497886.5:n.3095G=
ENST00000568454.5:c.5204G=	ENSP00000454487.1:p.Gly1735=
ENST00000569110.1:c.1554G=
ENST00000569930.1:n.2487G=
NM_000548.3:c.5372G= , LRG_487t1:c.5372G=	NP_000539.2:p.Gly1791=
NM_001077183.1:c.5171G=	NP_001070651.1:p.Gly1724=
NM_001114382.1:c.5303G=	NP_001107854.1:p.Gly1768=
XM_005255529.3:c.5243G=	XP_005255586.2:p.Gly1748=
XM_005255531.3:c.5174G=	XP_005255588.2:p.Gly1725=
XM_011522636.1:c.5426G=	XP_011520938.1:p.Gly1809=
XM_011522637.1:c.5423G=	XP_011520939.1:p.Gly1808=
XM_011522638.1:c.5315G=	XP_011520940.1:p.Gly1772=
XM_011522639.1:c.5297G=	XP_011520941.1:p.Gly1766=
XM_011522640.1:c.5294G=	XP_011520942.1:p.Gly1765=
XM_011522641.1:c.5063G=	XP_011520943.1:p.Gly1688=
NM_000548.4:c.5372G=	NP_000539.2:p.Gly1791=
NM_001077183.2:c.5171G=	NP_001070651.1:p.Gly1724=
NM_001114382.2:c.5303G=	NP_001107854.1:p.Gly1768=
NM_001318827.1:c.5063G=	NP_001305756.1:p.Gly1688=
NM_001318829.1:c.5027G=	NP_001305758.1:p.Gly1676=
NM_001318831.1:c.4640G=	NP_001305760.1:p.Gly1547=
NM_001318832.1:c.5204G=	NP_001305761.1:p.Gly1735=
NM_001363528.1:c.5174G=	NP_001350457.1:p.Gly1725=
NM_021055.2:c.5243G=	NP_066399.2:p.Gly1748=
XM_005255531.4:c.5174G=	XP_005255588.2:p.Gly1725=
XM_011522636.2:c.5426G=	XP_011520938.1:p.Gly1809=
XM_011522637.2:c.5423G=	XP_011520939.1:p.Gly1808=
XM_011522638.2:c.5588G=	XP_011520940.2:p.Gly1863=
XM_011522639.2:c.5297G=	XP_011520941.1:p.Gly1766=
XM_011522640.2:c.5294G=	XP_011520942.1:p.Gly1765=
XM_017023615.1:c.5369G=	XP_016879104.1:p.Gly1790=
XM_017023616.1:c.5240G=	XP_016879105.1:p.Gly1747=
XM_017023617.1:c.5336G=	XP_016879106.1:p.Gly1779=
XM_017023618.1:c.4082G=	XP_016879107.1:p.Gly1361=
XM_024450413.1:c.5258G=	XP_024306181.1:p.Gly1753=
NM_000548.5:c.5372G= MANE Select	NP_000539.2:p.Gly1791=
NM_001370404.1:c.5240G=	NP_001357333.1:p.Gly1747=
NM_001370405.1:c.5231G=	NP_001357334.1:p.Gly1744=
NM_001077183.3:c.5171G=	NP_001070651.1:p.Gly1724=
NM_001114382.3:c.5303G=	NP_001107854.1:p.Gly1768=
NM_001318827.2:c.5063G=	NP_001305756.1:p.Gly1688=
NM_001318829.2:c.5027G=	NP_001305758.1:p.Gly1676=
NM_001318831.2:c.4640G=	NP_001305760.1:p.Gly1547=
NM_001318832.2:c.5204G=	NP_001305761.1:p.Gly1735=
NM_001363528.2:c.5174G=	NP_001350457.1:p.Gly1725=
NM_021055.3:c.5243G=	NP_066399.2:p.Gly1748=