Canonical Allele Identifier: CA2202044852

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084554C= , CM000678.2:g.2084554C=	GRCh38
NC_000016.9:g.2134555C= , CM000678.1:g.2134555C=	GRCh37
NC_000016.8:g.2074556C=	NCBI36
NG_005895.1:g.40249C= , LRG_487:g.40249C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2681C=	ENSP00000455997.2:n.*2681C=
ENST00000642206.2:c.4179C=	ENSP00000495146.2:p.Pro1393=
ENST00000642365.2:c.4329C=	ENSP00000495459.2:p.Pro1443=
ENST00000644417.2:c.*4712C=	ENSP00000493912.2:n.*4712C=
ENST00000646464.2:c.*7081C=	ENSP00000496610.2:n.*7081C=
ENST00000219476.9:c.4332C= MANE Select	ENSP00000219476.3:p.Pro1444=
ENST00000350773.9:c.4263C=	ENSP00000344383.4:p.Pro1421=
ENST00000401874.7:c.4131C=	ENSP00000384468.2:p.Pro1377=
ENST00000568454.6:c.4164C=	ENSP00000454487.1:p.Pro1388=
ENST00000569110.2:c.568C=
ENST00000569930.2:n.2214C=
ENST00000642365.1:c.2986C=
ENST00000642561.1:c.4203C=	ENSP00000495099.1:p.Pro1401=
ENST00000642728.1:n.514C=
ENST00000642797.1:c.4134C=	ENSP00000493846.1:p.Pro1378=
ENST00000642936.1:c.4200C=	ENSP00000494514.1:p.Pro1400=
ENST00000643088.1:c.4131C=	ENSP00000494747.1:p.Pro1377=
ENST00000643177.1:n.346C=
ENST00000643426.1:n.1980C=
ENST00000643946.1:c.4263C=	ENSP00000495927.1:p.Pro1421=
ENST00000644043.1:c.4203C=	ENSP00000496262.1:p.Pro1401=
ENST00000644329.1:c.4131C=	ENSP00000496611.1:p.Pro1377=
ENST00000644335.1:c.4134C=	ENSP00000496317.1:p.Pro1378=
ENST00000644399.1:c.4253C=
ENST00000645024.1:n.2416C=
ENST00000646388.1:c.4332C=	ENSP00000495921.1:p.Pro1444=
ENST00000646634.1:n.3147C=
ENST00000646674.1:n.1584C=
ENST00000647042.1:n.1555C=
ENST00000647180.1:n.1445C=
ENST00000219476.7:c.4332C=	ENSP00000219476.3:p.Pro1444=
ENST00000350773.8:c.4263C=	ENSP00000344383.4:p.Pro1421=
ENST00000382538.10:c.3987C=	ENSP00000371978.6:p.Pro1329=
ENST00000401874.6:c.4131C=	ENSP00000384468.2:p.Pro1377=
ENST00000439117.6:c.*3499C=	ENSP00000406980.2:n.*3499C=
ENST00000439673.6:c.4023C=	ENSP00000399232.2:p.Pro1341=
ENST00000497886.5:n.2090C=
ENST00000568454.5:c.4164C=	ENSP00000454487.1:p.Pro1388=
ENST00000569110.1:c.514C=
ENST00000569930.1:n.1447C=
NM_000548.3:c.4332C= , LRG_487t1:c.4332C=	NP_000539.2:p.Pro1444=
NM_001077183.1:c.4131C=	NP_001070651.1:p.Pro1377=
NM_001114382.1:c.4263C=	NP_001107854.1:p.Pro1421=
XM_005255529.3:c.4203C=	XP_005255586.2:p.Pro1401=
XM_005255531.3:c.4134C=	XP_005255588.2:p.Pro1378=
XM_011522636.1:c.4386C=	XP_011520938.1:p.Pro1462=
XM_011522637.1:c.4383C=	XP_011520939.1:p.Pro1461=
XM_011522638.1:c.4275C=	XP_011520940.1:p.Pro1425=
XM_011522639.1:c.4257C=	XP_011520941.1:p.Pro1419=
XM_011522640.1:c.4254C=	XP_011520942.1:p.Pro1418=
XM_011522641.1:c.4023C=	XP_011520943.1:p.Pro1341=
NM_000548.4:c.4332C=	NP_000539.2:p.Pro1444=
NM_001077183.2:c.4131C=	NP_001070651.1:p.Pro1377=
NM_001114382.2:c.4263C=	NP_001107854.1:p.Pro1421=
NM_001318827.1:c.4023C=	NP_001305756.1:p.Pro1341=
NM_001318829.1:c.3987C=	NP_001305758.1:p.Pro1329=
NM_001318831.1:c.3600C=	NP_001305760.1:p.Pro1200=
NM_001318832.1:c.4164C=	NP_001305761.1:p.Pro1388=
NM_001363528.1:c.4134C=	NP_001350457.1:p.Pro1378=
NM_021055.2:c.4203C=	NP_066399.2:p.Pro1401=
XM_005255531.4:c.4134C=	XP_005255588.2:p.Pro1378=
XM_011522636.2:c.4386C=	XP_011520938.1:p.Pro1462=
XM_011522637.2:c.4383C=	XP_011520939.1:p.Pro1461=
XM_011522638.2:c.4548C=	XP_011520940.2:p.Pro1516=
XM_011522639.2:c.4257C=	XP_011520941.1:p.Pro1419=
XM_011522640.2:c.4254C=	XP_011520942.1:p.Pro1418=
XM_017023615.1:c.4329C=	XP_016879104.1:p.Pro1443=
XM_017023616.1:c.4200C=	XP_016879105.1:p.Pro1400=
XM_017023617.1:c.4296C=	XP_016879106.1:p.Pro1432=
XM_017023618.1:c.3042C=	XP_016879107.1:p.Pro1014=
XM_024450413.1:c.4131C=	XP_024306181.1:p.Pro1377=
NM_000548.5:c.4332C= MANE Select	NP_000539.2:p.Pro1444=
NM_001370404.1:c.4200C=	NP_001357333.1:p.Pro1400=
NM_001370405.1:c.4203C=	NP_001357334.1:p.Pro1401=
NM_001077183.3:c.4131C=	NP_001070651.1:p.Pro1377=
NM_001114382.3:c.4263C=	NP_001107854.1:p.Pro1421=
NM_001318827.2:c.4023C=	NP_001305756.1:p.Pro1341=
NM_001318829.2:c.3987C=	NP_001305758.1:p.Pro1329=
NM_001318831.2:c.3600C=	NP_001305760.1:p.Pro1200=
NM_001318832.2:c.4164C=	NP_001305761.1:p.Pro1388=
NM_001363528.2:c.4134C=	NP_001350457.1:p.Pro1378=
NM_021055.3:c.4203C=	NP_066399.2:p.Pro1401=