Canonical Allele Identifier: CA1139664287

Gene: TSC2

Linked Data

• ClinVar Variation Id: 992453
• ClinVar RCV Id: RCV001280903
• dbSNP Id: rs2090626831

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085281_2085283del , CM000678.2:g.2085281_2085283del	GRCh38
NC_000016.9:g.2135282_2135284del , CM000678.1:g.2135282_2135284del	GRCh37
NC_000016.8:g.2075283_2075285del	NCBI36
NG_005895.1:g.40976_40978del , LRG_487:g.40976_40978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2970_*2972del	ENSP00000455997.2:n.*2970_*2972del
ENST00000642206.2:c.4468_4470del	ENSP00000495146.2:p.Asp1490del
ENST00000642365.2:c.4618_4620del	ENSP00000495459.2:p.Asp1540del
ENST00000644417.2:c.*5001_*5003del	ENSP00000493912.2:n.*5001_*5003del
ENST00000646464.2:c.*7370_*7372del	ENSP00000496610.2:n.*7370_*7372del
ENST00000219476.9:c.4621_4623del MANE Select	ENSP00000219476.3:p.Asp1541del
ENST00000350773.9:c.4552_4554del	ENSP00000344383.4:p.Asp1518del
ENST00000401874.7:c.4420_4422del	ENSP00000384468.2:p.Asp1474del
ENST00000568454.6:c.4453_4455del	ENSP00000454487.1:p.Asp1485del
ENST00000569110.2:c.844_846del
ENST00000569930.2:n.2503_2505del
ENST00000642365.1:c.3275_3277del
ENST00000642561.1:c.4492_4494del	ENSP00000495099.1:p.Asp1498del
ENST00000642728.1:n.803_805del
ENST00000642791.1:n.218_220del
ENST00000642797.1:c.4423_4425del	ENSP00000493846.1:p.Asp1475del
ENST00000642936.1:c.4489_4491del	ENSP00000494514.1:p.Asp1497del
ENST00000643088.1:c.4414_4416del	ENSP00000494747.1:p.Asp1472del
ENST00000643177.1:n.635_637del
ENST00000643426.1:n.2269_2271del
ENST00000643946.1:c.4546_4548del	ENSP00000495927.1:p.Asp1516del
ENST00000644043.1:c.4492_4494del	ENSP00000496262.1:p.Asp1498del
ENST00000644278.1:n.103_105del
ENST00000644329.1:c.4420_4422del	ENSP00000496611.1:p.Asp1474del
ENST00000644335.1:c.4417_4419del	ENSP00000496317.1:p.Asp1473del
ENST00000644399.1:c.4542_4544del
ENST00000645024.1:n.2705_2707del
ENST00000646388.1:c.4615_4617del	ENSP00000495921.1:p.Asp1539del
ENST00000646634.1:n.3436_3438del
ENST00000646674.1:n.1873_1875del
ENST00000647042.1:n.1844_1846del
ENST00000647180.1:n.1734_1736del
ENST00000219476.7:c.4621_4623del	ENSP00000219476.3:p.Asp1541del
ENST00000350773.8:c.4552_4554del	ENSP00000344383.4:p.Asp1518del
ENST00000382538.10:c.4276_4278del	ENSP00000371978.6:p.Asp1426del
ENST00000401874.6:c.4420_4422del	ENSP00000384468.2:p.Asp1474del
ENST00000439117.6:c.*3788_*3790del	ENSP00000406980.2:n.*3788_*3790del
ENST00000439673.6:c.4312_4314del	ENSP00000399232.2:p.Asp1438del
ENST00000497886.5:n.2379_2381del
ENST00000568454.5:c.4453_4455del	ENSP00000454487.1:p.Asp1485del
ENST00000569110.1:c.803_805del
ENST00000569930.1:n.1736_1738del
NM_000548.3:c.4621_4623del , LRG_487t1:c.4621_4623del	NP_000539.2:p.Asp1541del
NM_001077183.1:c.4420_4422del	NP_001070651.1:p.Asp1474del
NM_001114382.1:c.4552_4554del	NP_001107854.1:p.Asp1518del
XM_005255529.3:c.4492_4494del	XP_005255586.2:p.Asp1498del
XM_005255531.3:c.4423_4425del	XP_005255588.2:p.Asp1475del
XM_011522636.1:c.4675_4677del	XP_011520938.1:p.Asp1559del
XM_011522637.1:c.4672_4674del	XP_011520939.1:p.Asp1558del
XM_011522638.1:c.4564_4566del	XP_011520940.1:p.Asp1522del
XM_011522639.1:c.4546_4548del	XP_011520941.1:p.Asp1516del
XM_011522640.1:c.4543_4545del	XP_011520942.1:p.Asp1515del
XM_011522641.1:c.4312_4314del	XP_011520943.1:p.Asp1438del
NM_000548.4:c.4621_4623del	NP_000539.2:p.Asp1541del
NM_001077183.2:c.4420_4422del	NP_001070651.1:p.Asp1474del
NM_001114382.2:c.4552_4554del	NP_001107854.1:p.Asp1518del
NM_001318827.1:c.4312_4314del	NP_001305756.1:p.Asp1438del
NM_001318829.1:c.4276_4278del	NP_001305758.1:p.Asp1426del
NM_001318831.1:c.3889_3891del	NP_001305760.1:p.Asp1297del
NM_001318832.1:c.4453_4455del	NP_001305761.1:p.Asp1485del
NM_001363528.1:c.4423_4425del	NP_001350457.1:p.Asp1475del
NM_021055.2:c.4492_4494del	NP_066399.2:p.Asp1498del
XM_005255531.4:c.4423_4425del	XP_005255588.2:p.Asp1475del
XM_011522636.2:c.4675_4677del	XP_011520938.1:p.Asp1559del
XM_011522637.2:c.4672_4674del	XP_011520939.1:p.Asp1558del
XM_011522638.2:c.4837_4839del	XP_011520940.2:p.Asp1613del
XM_011522639.2:c.4546_4548del	XP_011520941.1:p.Asp1516del
XM_011522640.2:c.4543_4545del	XP_011520942.1:p.Asp1515del
XM_017023615.1:c.4618_4620del	XP_016879104.1:p.Asp1540del
XM_017023616.1:c.4489_4491del	XP_016879105.1:p.Asp1497del
XM_017023617.1:c.4585_4587del	XP_016879106.1:p.Asp1529del
XM_017023618.1:c.3331_3333del	XP_016879107.1:p.Asp1111del
XM_024450413.1:c.4420_4422del	XP_024306181.1:p.Asp1474del
NM_000548.5:c.4621_4623del MANE Select	NP_000539.2:p.Asp1541del
NM_001370404.1:c.4489_4491del	NP_001357333.1:p.Asp1497del
NM_001370405.1:c.4492_4494del	NP_001357334.1:p.Asp1498del
NM_001077183.3:c.4420_4422del	NP_001070651.1:p.Asp1474del
NM_001114382.3:c.4552_4554del	NP_001107854.1:p.Asp1518del
NM_001318827.2:c.4312_4314del	NP_001305756.1:p.Asp1438del
NM_001318829.2:c.4276_4278del	NP_001305758.1:p.Asp1426del
NM_001318831.2:c.3889_3891del	NP_001305760.1:p.Asp1297del
NM_001318832.2:c.4453_4455del	NP_001305761.1:p.Asp1485del
NM_001363528.2:c.4423_4425del	NP_001350457.1:p.Asp1475del
NM_021055.3:c.4492_4494del	NP_066399.2:p.Asp1498del