Canonical Allele Identifier: CA913188675

Gene: TSC2

Linked Data

• ClinVar Variation Id: 3076039
• ClinVar RCV Id: RCV004018357

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085273dup , CM000678.2:g.2085273dup	GRCh38
NC_000016.9:g.2135274dup , CM000678.1:g.2135274dup	GRCh37
NC_000016.8:g.2075275dup	NCBI36
NG_005895.1:g.40968dup , LRG_487:g.40968dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2962dup	ENSP00000455997.2:n.*2962dup
ENST00000642206.2:c.4460dup	ENSP00000495146.2:p.Ser1488IlefsTer27
ENST00000642365.2:c.4610dup	ENSP00000495459.2:p.Ser1538IlefsTer27
ENST00000644417.2:c.*4993dup	ENSP00000493912.2:n.*4993dup
ENST00000646464.2:c.*7362dup	ENSP00000496610.2:n.*7362dup
ENST00000219476.9:c.4613dup MANE Select	ENSP00000219476.3:p.Ser1539IlefsTer27
ENST00000350773.9:c.4544dup	ENSP00000344383.4:p.Ser1516IlefsTer27
ENST00000401874.7:c.4412dup	ENSP00000384468.2:p.Ser1472IlefsTer27
ENST00000568454.6:c.4445dup	ENSP00000454487.1:p.Ser1483IlefsTer27
ENST00000569110.2:c.836dup
ENST00000569930.2:n.2495dup
ENST00000642365.1:c.3267dup
ENST00000642561.1:c.4484dup	ENSP00000495099.1:p.Ser1496IlefsTer27
ENST00000642728.1:n.795dup
ENST00000642791.1:n.210dup
ENST00000642797.1:c.4415dup	ENSP00000493846.1:p.Ser1473IlefsTer27
ENST00000642936.1:c.4481dup	ENSP00000494514.1:p.Ser1495IlefsTer27
ENST00000643088.1:c.4406dup	ENSP00000494747.1:p.Ser1470IlefsTer27
ENST00000643177.1:n.627dup
ENST00000643426.1:n.2261dup
ENST00000643946.1:c.4538dup	ENSP00000495927.1:p.Ser1514IlefsTer27
ENST00000644043.1:c.4484dup	ENSP00000496262.1:p.Ser1496IlefsTer27
ENST00000644278.1:n.95dup
ENST00000644329.1:c.4412dup	ENSP00000496611.1:p.Ser1472IlefsTer27
ENST00000644335.1:c.4409dup	ENSP00000496317.1:p.Ser1471IlefsTer27
ENST00000644399.1:c.4534dup
ENST00000645024.1:n.2697dup
ENST00000646388.1:c.4607dup	ENSP00000495921.1:p.Ser1537IlefsTer27
ENST00000646634.1:n.3428dup
ENST00000646674.1:n.1865dup
ENST00000647042.1:n.1836dup
ENST00000647180.1:n.1726dup
ENST00000219476.7:c.4613dup	ENSP00000219476.3:p.Ser1539IlefsTer27
ENST00000350773.8:c.4544dup	ENSP00000344383.4:p.Ser1516IlefsTer27
ENST00000382538.10:c.4268dup	ENSP00000371978.6:p.Ser1424IlefsTer27
ENST00000401874.6:c.4412dup	ENSP00000384468.2:p.Ser1472IlefsTer27
ENST00000439117.6:c.*3780dup	ENSP00000406980.2:n.*3780dup
ENST00000439673.6:c.4304dup	ENSP00000399232.2:p.Ser1436IlefsTer27
ENST00000497886.5:n.2371dup
ENST00000568454.5:c.4445dup	ENSP00000454487.1:p.Ser1483IlefsTer27
ENST00000569110.1:c.795dup
ENST00000569930.1:n.1728dup
NM_000548.3:c.4613dup , LRG_487t1:c.4613dup	NP_000539.2:p.Ser1539IlefsTer27
NM_001077183.1:c.4412dup	NP_001070651.1:p.Ser1472IlefsTer27
NM_001114382.1:c.4544dup	NP_001107854.1:p.Ser1516IlefsTer27
XM_005255529.3:c.4484dup	XP_005255586.2:p.Ser1496IlefsTer27
XM_005255531.3:c.4415dup	XP_005255588.2:p.Ser1473IlefsTer27
XM_011522636.1:c.4667dup	XP_011520938.1:p.Ser1557IlefsTer27
XM_011522637.1:c.4664dup	XP_011520939.1:p.Ser1556IlefsTer27
XM_011522638.1:c.4556dup	XP_011520940.1:p.Ser1520IlefsTer27
XM_011522639.1:c.4538dup	XP_011520941.1:p.Ser1514IlefsTer27
XM_011522640.1:c.4535dup	XP_011520942.1:p.Ser1513IlefsTer27
XM_011522641.1:c.4304dup	XP_011520943.1:p.Ser1436IlefsTer27
NM_000548.4:c.4613dup	NP_000539.2:p.Ser1539IlefsTer27
NM_001077183.2:c.4412dup	NP_001070651.1:p.Ser1472IlefsTer27
NM_001114382.2:c.4544dup	NP_001107854.1:p.Ser1516IlefsTer27
NM_001318827.1:c.4304dup	NP_001305756.1:p.Ser1436IlefsTer27
NM_001318829.1:c.4268dup	NP_001305758.1:p.Ser1424IlefsTer27
NM_001318831.1:c.3881dup	NP_001305760.1:p.Ser1295IlefsTer27
NM_001318832.1:c.4445dup	NP_001305761.1:p.Ser1483IlefsTer27
NM_001363528.1:c.4415dup	NP_001350457.1:p.Ser1473IlefsTer27
NM_021055.2:c.4484dup	NP_066399.2:p.Ser1496IlefsTer27
XM_005255531.4:c.4415dup	XP_005255588.2:p.Ser1473IlefsTer27
XM_011522636.2:c.4667dup	XP_011520938.1:p.Ser1557IlefsTer27
XM_011522637.2:c.4664dup	XP_011520939.1:p.Ser1556IlefsTer27
XM_011522638.2:c.4829dup	XP_011520940.2:p.Ser1611IlefsTer27
XM_011522639.2:c.4538dup	XP_011520941.1:p.Ser1514IlefsTer27
XM_011522640.2:c.4535dup	XP_011520942.1:p.Ser1513IlefsTer27
XM_017023615.1:c.4610dup	XP_016879104.1:p.Ser1538IlefsTer27
XM_017023616.1:c.4481dup	XP_016879105.1:p.Ser1495IlefsTer27
XM_017023617.1:c.4577dup	XP_016879106.1:p.Ser1527IlefsTer27
XM_017023618.1:c.3323dup	XP_016879107.1:p.Ser1109IlefsTer27
XM_024450413.1:c.4412dup	XP_024306181.1:p.Ser1472IlefsTer27
NM_000548.5:c.4613dup MANE Select	NP_000539.2:p.Ser1539IlefsTer27
NM_001370404.1:c.4481dup	NP_001357333.1:p.Ser1495IlefsTer27
NM_001370405.1:c.4484dup	NP_001357334.1:p.Ser1496IlefsTer27
NM_001077183.3:c.4412dup	NP_001070651.1:p.Ser1472IlefsTer27
NM_001114382.3:c.4544dup	NP_001107854.1:p.Ser1516IlefsTer27
NM_001318827.2:c.4304dup	NP_001305756.1:p.Ser1436IlefsTer27
NM_001318829.2:c.4268dup	NP_001305758.1:p.Ser1424IlefsTer27
NM_001318831.2:c.3881dup	NP_001305760.1:p.Ser1295IlefsTer27
NM_001318832.2:c.4445dup	NP_001305761.1:p.Ser1483IlefsTer27
NM_001363528.2:c.4415dup	NP_001350457.1:p.Ser1473IlefsTer27
NM_021055.3:c.4484dup	NP_066399.2:p.Ser1496IlefsTer27