Canonical Allele Identifier: CA2999388478

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084556dup , CM000678.2:g.2084556dup	GRCh38
NC_000016.9:g.2134557dup , CM000678.1:g.2134557dup	GRCh37
NC_000016.8:g.2074558dup	NCBI36
NG_005895.1:g.40251dup , LRG_487:g.40251dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2683dup	ENSP00000455997.2:n.*2683dup
ENST00000642206.2:c.4181dup	ENSP00000495146.2:p.Leu1394PhefsTer?
ENST00000642365.2:c.4331dup	ENSP00000495459.2:p.Leu1444PhefsTer?
ENST00000644417.2:c.*4714dup	ENSP00000493912.2:n.*4714dup
ENST00000646464.2:c.*7083dup	ENSP00000496610.2:n.*7083dup
ENST00000219476.9:c.4334dup MANE Select	ENSP00000219476.3:p.Leu1445PhefsTer?
ENST00000350773.9:c.4265dup	ENSP00000344383.4:p.Leu1422PhefsTer?
ENST00000401874.7:c.4133dup	ENSP00000384468.2:p.Leu1378PhefsTer?
ENST00000568454.6:c.4166dup	ENSP00000454487.1:p.Leu1389PhefsTer?
ENST00000569110.2:c.570dup
ENST00000569930.2:n.2216dup
ENST00000642365.1:c.2988dup
ENST00000642561.1:c.4205dup	ENSP00000495099.1:p.Leu1402PhefsTer?
ENST00000642728.1:n.516dup
ENST00000642797.1:c.4136dup	ENSP00000493846.1:p.Leu1379PhefsTer?
ENST00000642936.1:c.4202dup	ENSP00000494514.1:p.Leu1401PhefsTer?
ENST00000643088.1:c.4133dup	ENSP00000494747.1:p.Leu1378PhefsTer?
ENST00000643177.1:n.348dup
ENST00000643426.1:n.1982dup
ENST00000643946.1:c.4265dup	ENSP00000495927.1:p.Leu1422PhefsTer?
ENST00000644043.1:c.4205dup	ENSP00000496262.1:p.Leu1402PhefsTer?
ENST00000644329.1:c.4133dup	ENSP00000496611.1:p.Leu1378PhefsTer?
ENST00000644335.1:c.4136dup	ENSP00000496317.1:p.Leu1379PhefsTer?
ENST00000644399.1:c.4255dup
ENST00000645024.1:n.2418dup
ENST00000646388.1:c.4334dup	ENSP00000495921.1:p.Leu1445PhefsTer?
ENST00000646634.1:n.3149dup
ENST00000646674.1:n.1586dup
ENST00000647042.1:n.1557dup
ENST00000647180.1:n.1447dup
ENST00000219476.7:c.4334dup	ENSP00000219476.3:p.Leu1445PhefsTer?
ENST00000350773.8:c.4265dup	ENSP00000344383.4:p.Leu1422PhefsTer?
ENST00000382538.10:c.3989dup	ENSP00000371978.6:p.Leu1330PhefsTer?
ENST00000401874.6:c.4133dup	ENSP00000384468.2:p.Leu1378PhefsTer?
ENST00000439117.6:c.*3501dup	ENSP00000406980.2:n.*3501dup
ENST00000439673.6:c.4025dup	ENSP00000399232.2:p.Leu1342PhefsTer?
ENST00000497886.5:n.2092dup
ENST00000568454.5:c.4166dup	ENSP00000454487.1:p.Leu1389PhefsTer?
ENST00000569110.1:c.516dup
ENST00000569930.1:n.1449dup
NM_000548.3:c.4334dup , LRG_487t1:c.4334dup	NP_000539.2:p.Leu1445PhefsTer?
NM_001077183.1:c.4133dup	NP_001070651.1:p.Leu1378PhefsTer?
NM_001114382.1:c.4265dup	NP_001107854.1:p.Leu1422PhefsTer?
XM_005255529.3:c.4205dup	XP_005255586.2:p.Leu1402PhefsTer?
XM_005255531.3:c.4136dup	XP_005255588.2:p.Leu1379PhefsTer?
XM_011522636.1:c.4388dup	XP_011520938.1:p.Leu1463PhefsTer?
XM_011522637.1:c.4385dup	XP_011520939.1:p.Leu1462PhefsTer?
XM_011522638.1:c.4277dup	XP_011520940.1:p.Leu1426PhefsTer?
XM_011522639.1:c.4259dup	XP_011520941.1:p.Leu1420PhefsTer?
XM_011522640.1:c.4256dup	XP_011520942.1:p.Leu1419PhefsTer?
XM_011522641.1:c.4025dup	XP_011520943.1:p.Leu1342PhefsTer?
NM_000548.4:c.4334dup	NP_000539.2:p.Leu1445PhefsTer?
NM_001077183.2:c.4133dup	NP_001070651.1:p.Leu1378PhefsTer?
NM_001114382.2:c.4265dup	NP_001107854.1:p.Leu1422PhefsTer?
NM_001318827.1:c.4025dup	NP_001305756.1:p.Leu1342PhefsTer?
NM_001318829.1:c.3989dup	NP_001305758.1:p.Leu1330PhefsTer?
NM_001318831.1:c.3602dup	NP_001305760.1:p.Leu1201PhefsTer?
NM_001318832.1:c.4166dup	NP_001305761.1:p.Leu1389PhefsTer?
NM_001363528.1:c.4136dup	NP_001350457.1:p.Leu1379PhefsTer?
NM_021055.2:c.4205dup	NP_066399.2:p.Leu1402PhefsTer?
XM_005255531.4:c.4136dup	XP_005255588.2:p.Leu1379PhefsTer?
XM_011522636.2:c.4388dup	XP_011520938.1:p.Leu1463PhefsTer?
XM_011522637.2:c.4385dup	XP_011520939.1:p.Leu1462PhefsTer?
XM_011522638.2:c.4550dup	XP_011520940.2:p.Leu1517PhefsTer?
XM_011522639.2:c.4259dup	XP_011520941.1:p.Leu1420PhefsTer?
XM_011522640.2:c.4256dup	XP_011520942.1:p.Leu1419PhefsTer?
XM_017023615.1:c.4331dup	XP_016879104.1:p.Leu1444PhefsTer?
XM_017023616.1:c.4202dup	XP_016879105.1:p.Leu1401PhefsTer?
XM_017023617.1:c.4298dup	XP_016879106.1:p.Leu1433PhefsTer?
XM_017023618.1:c.3044dup	XP_016879107.1:p.Leu1015PhefsTer?
XM_024450413.1:c.4133dup	XP_024306181.1:p.Leu1378PhefsTer?
NM_000548.5:c.4334dup MANE Select	NP_000539.2:p.Leu1445PhefsTer?
NM_001370404.1:c.4202dup	NP_001357333.1:p.Leu1401PhefsTer?
NM_001370405.1:c.4205dup	NP_001357334.1:p.Leu1402PhefsTer?
NM_001077183.3:c.4133dup	NP_001070651.1:p.Leu1378PhefsTer?
NM_001114382.3:c.4265dup	NP_001107854.1:p.Leu1422PhefsTer?
NM_001318827.2:c.4025dup	NP_001305756.1:p.Leu1342PhefsTer?
NM_001318829.2:c.3989dup	NP_001305758.1:p.Leu1330PhefsTer?
NM_001318831.2:c.3602dup	NP_001305760.1:p.Leu1201PhefsTer?
NM_001318832.2:c.4166dup	NP_001305761.1:p.Leu1389PhefsTer?
NM_001363528.2:c.4136dup	NP_001350457.1:p.Leu1379PhefsTer?
NM_021055.3:c.4205dup	NP_066399.2:p.Leu1402PhefsTer?