Canonical Allele Identifier: CA020455

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49297
• ClinVar RCV Id: RCV000042556
• dbSNP Id: rs137854035
• MyVariant Identifiers: chr16:g.2134647_2134650dupTAGA (hg19) ; chr16:g.2084646_2084649dupTAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084646_2084649dup , CM000678.2:g.2084646_2084649dup	GRCh38
NC_000016.9:g.2134647_2134650dup , CM000678.1:g.2134647_2134650dup	GRCh37
NC_000016.8:g.2074648_2074651dup	NCBI36
NG_005895.1:g.40341_40344dup , LRG_487:g.40341_40344dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2773_*2776dup	ENSP00000455997.2:n.*2773_*2776dup
ENST00000642206.2:c.4271_4274dup	ENSP00000495146.2:p.Glu1425AspfsTer?
ENST00000642365.2:c.4421_4424dup	ENSP00000495459.2:p.Glu1475AspfsTer?
ENST00000644417.2:c.*4804_*4807dup	ENSP00000493912.2:n.*4804_*4807dup
ENST00000646464.2:c.*7173_*7176dup	ENSP00000496610.2:n.*7173_*7176dup
ENST00000219476.9:c.4424_4427dup MANE Select	ENSP00000219476.3:p.Glu1476AspfsTer?
ENST00000350773.9:c.4355_4358dup	ENSP00000344383.4:p.Glu1453AspfsTer?
ENST00000401874.7:c.4223_4226dup	ENSP00000384468.2:p.Glu1409AspfsTer?
ENST00000568454.6:c.4256_4259dup	ENSP00000454487.1:p.Glu1420AspfsTer?
ENST00000569110.2:c.660_663dup
ENST00000569930.2:n.2306_2309dup
ENST00000642365.1:c.3078_3081dup
ENST00000642561.1:c.4295_4298dup	ENSP00000495099.1:p.Glu1433AspfsTer?
ENST00000642728.1:n.606_609dup
ENST00000642797.1:c.4226_4229dup	ENSP00000493846.1:p.Glu1410AspfsTer?
ENST00000642936.1:c.4292_4295dup	ENSP00000494514.1:p.Glu1432AspfsTer?
ENST00000643088.1:c.4223_4226dup	ENSP00000494747.1:p.Glu1409AspfsTer?
ENST00000643177.1:n.438_441dup
ENST00000643426.1:n.2072_2075dup
ENST00000643946.1:c.4355_4358dup	ENSP00000495927.1:p.Glu1453AspfsTer?
ENST00000644043.1:c.4295_4298dup	ENSP00000496262.1:p.Glu1433AspfsTer?
ENST00000644329.1:c.4223_4226dup	ENSP00000496611.1:p.Glu1409AspfsTer?
ENST00000644335.1:c.4226_4229dup	ENSP00000496317.1:p.Glu1410AspfsTer?
ENST00000644399.1:c.4345_4348dup
ENST00000645024.1:n.2508_2511dup
ENST00000646388.1:c.4424_4427dup	ENSP00000495921.1:p.Glu1476AspfsTer?
ENST00000646634.1:n.3239_3242dup
ENST00000646674.1:n.1676_1679dup
ENST00000647042.1:n.1647_1650dup
ENST00000647180.1:n.1537_1540dup
ENST00000219476.7:c.4424_4427dup	ENSP00000219476.3:p.Glu1476AspfsTer?
ENST00000350773.8:c.4355_4358dup	ENSP00000344383.4:p.Glu1453AspfsTer?
ENST00000382538.10:c.4079_4082dup	ENSP00000371978.6:p.Glu1361AspfsTer?
ENST00000401874.6:c.4223_4226dup	ENSP00000384468.2:p.Glu1409AspfsTer?
ENST00000439117.6:c.*3591_*3594dup	ENSP00000406980.2:n.*3591_*3594dup
ENST00000439673.6:c.4115_4118dup	ENSP00000399232.2:p.Glu1373AspfsTer?
ENST00000497886.5:n.2182_2185dup
ENST00000568454.5:c.4256_4259dup	ENSP00000454487.1:p.Glu1420AspfsTer?
ENST00000569110.1:c.606_609dup
ENST00000569930.1:n.1539_1542dup
NM_000548.3:c.4424_4427dup , LRG_487t1:c.4424_4427dup	NP_000539.2:p.Glu1476AspfsTer?
NM_001077183.1:c.4223_4226dup	NP_001070651.1:p.Glu1409AspfsTer?
NM_001114382.1:c.4355_4358dup	NP_001107854.1:p.Glu1453AspfsTer?
XM_005255529.3:c.4295_4298dup	XP_005255586.2:p.Glu1433AspfsTer?
XM_005255531.3:c.4226_4229dup	XP_005255588.2:p.Glu1410AspfsTer?
XM_011522636.1:c.4478_4481dup	XP_011520938.1:p.Glu1494AspfsTer?
XM_011522637.1:c.4475_4478dup	XP_011520939.1:p.Glu1493AspfsTer?
XM_011522638.1:c.4367_4370dup	XP_011520940.1:p.Glu1457AspfsTer?
XM_011522639.1:c.4349_4352dup	XP_011520941.1:p.Glu1451AspfsTer?
XM_011522640.1:c.4346_4349dup	XP_011520942.1:p.Glu1450AspfsTer?
XM_011522641.1:c.4115_4118dup	XP_011520943.1:p.Glu1373AspfsTer?
NM_000548.4:c.4424_4427dup	NP_000539.2:p.Glu1476AspfsTer?
NM_001077183.2:c.4223_4226dup	NP_001070651.1:p.Glu1409AspfsTer?
NM_001114382.2:c.4355_4358dup	NP_001107854.1:p.Glu1453AspfsTer?
NM_001318827.1:c.4115_4118dup	NP_001305756.1:p.Glu1373AspfsTer?
NM_001318829.1:c.4079_4082dup	NP_001305758.1:p.Glu1361AspfsTer?
NM_001318831.1:c.3692_3695dup	NP_001305760.1:p.Glu1232AspfsTer?
NM_001318832.1:c.4256_4259dup	NP_001305761.1:p.Glu1420AspfsTer?
NM_001363528.1:c.4226_4229dup	NP_001350457.1:p.Glu1410AspfsTer?
NM_021055.2:c.4295_4298dup	NP_066399.2:p.Glu1433AspfsTer?
XM_005255531.4:c.4226_4229dup	XP_005255588.2:p.Glu1410AspfsTer?
XM_011522636.2:c.4478_4481dup	XP_011520938.1:p.Glu1494AspfsTer?
XM_011522637.2:c.4475_4478dup	XP_011520939.1:p.Glu1493AspfsTer?
XM_011522638.2:c.4640_4643dup	XP_011520940.2:p.Glu1548AspfsTer?
XM_011522639.2:c.4349_4352dup	XP_011520941.1:p.Glu1451AspfsTer?
XM_011522640.2:c.4346_4349dup	XP_011520942.1:p.Glu1450AspfsTer?
XM_017023615.1:c.4421_4424dup	XP_016879104.1:p.Glu1475AspfsTer?
XM_017023616.1:c.4292_4295dup	XP_016879105.1:p.Glu1432AspfsTer?
XM_017023617.1:c.4388_4391dup	XP_016879106.1:p.Glu1464AspfsTer?
XM_017023618.1:c.3134_3137dup	XP_016879107.1:p.Glu1046AspfsTer?
XM_024450413.1:c.4223_4226dup	XP_024306181.1:p.Glu1409AspfsTer?
NM_000548.5:c.4424_4427dup MANE Select	NP_000539.2:p.Glu1476AspfsTer?
NM_001370404.1:c.4292_4295dup	NP_001357333.1:p.Glu1432AspfsTer?
NM_001370405.1:c.4295_4298dup	NP_001357334.1:p.Glu1433AspfsTer?
NM_001077183.3:c.4223_4226dup	NP_001070651.1:p.Glu1409AspfsTer?
NM_001114382.3:c.4355_4358dup	NP_001107854.1:p.Glu1453AspfsTer?
NM_001318827.2:c.4115_4118dup	NP_001305756.1:p.Glu1373AspfsTer?
NM_001318829.2:c.4079_4082dup	NP_001305758.1:p.Glu1361AspfsTer?
NM_001318831.2:c.3692_3695dup	NP_001305760.1:p.Glu1232AspfsTer?
NM_001318832.2:c.4256_4259dup	NP_001305761.1:p.Glu1420AspfsTer?
NM_001363528.2:c.4226_4229dup	NP_001350457.1:p.Glu1410AspfsTer?
NM_021055.3:c.4295_4298dup	NP_066399.2:p.Glu1433AspfsTer?