Canonical Allele Identifier: CA020782

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65014
• ClinVar RCV Id: RCV000055218
• dbSNP Id: rs397515005
• MyVariant Identifiers: chr16:g.2135282del (hg19) ; chr16:g.2085281del (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2970del	ENSP00000455997.2:n.*2970del
ENST00000642206.2:c.4468del	ENSP00000495146.2:p.Asp1490ThrfsTer?
ENST00000642365.2:c.4618del	ENSP00000495459.2:p.Asp1540ThrfsTer?
ENST00000644417.2:c.*5001del	ENSP00000493912.2:n.*5001del
ENST00000646464.2:c.*7370del	ENSP00000496610.2:n.*7370del
ENST00000219476.9:c.4621del MANE Select	ENSP00000219476.3:p.Asp1541ThrfsTer?
ENST00000350773.9:c.4552del	ENSP00000344383.4:p.Asp1518ThrfsTer?
ENST00000401874.7:c.4420del	ENSP00000384468.2:p.Asp1474ThrfsTer?
ENST00000568454.6:c.4453del	ENSP00000454487.1:p.Asp1485ThrfsTer?
ENST00000569110.2:c.844del
ENST00000569930.2:n.2503del
ENST00000642365.1:c.3275del
ENST00000642561.1:c.4492del	ENSP00000495099.1:p.Asp1498ThrfsTer?
ENST00000642728.1:n.803del
ENST00000642791.1:n.218del
ENST00000642797.1:c.4423del	ENSP00000493846.1:p.Asp1475ThrfsTer?
ENST00000642936.1:c.4489del	ENSP00000494514.1:p.Asp1497ThrfsTer?
ENST00000643088.1:c.4414del	ENSP00000494747.1:p.Asp1472ThrfsTer?
ENST00000643177.1:n.635del
ENST00000643426.1:n.2269del
ENST00000643946.1:c.4546del	ENSP00000495927.1:p.Asp1516ThrfsTer?
ENST00000644043.1:c.4492del	ENSP00000496262.1:p.Asp1498ThrfsTer?
ENST00000644278.1:n.103del
ENST00000644329.1:c.4420del	ENSP00000496611.1:p.Asp1474ThrfsTer?
ENST00000644335.1:c.4417del	ENSP00000496317.1:p.Asp1473ThrfsTer?
ENST00000644399.1:c.4542del
ENST00000645024.1:n.2705del
ENST00000646388.1:c.4615del	ENSP00000495921.1:p.Asp1539ThrfsTer?
ENST00000646634.1:n.3436del
ENST00000646674.1:n.1873del
ENST00000647042.1:n.1844del
ENST00000647180.1:n.1734del
ENST00000219476.7:c.4621del	ENSP00000219476.3:p.Asp1541ThrfsTer?
ENST00000350773.8:c.4552del	ENSP00000344383.4:p.Asp1518ThrfsTer?
ENST00000382538.10:c.4276del	ENSP00000371978.6:p.Asp1426ThrfsTer?
ENST00000401874.6:c.4420del	ENSP00000384468.2:p.Asp1474ThrfsTer?
ENST00000439117.6:c.*3788del	ENSP00000406980.2:n.*3788del
ENST00000439673.6:c.4312del	ENSP00000399232.2:p.Asp1438ThrfsTer?
ENST00000497886.5:n.2379del
ENST00000568454.5:c.4453del	ENSP00000454487.1:p.Asp1485ThrfsTer?
ENST00000569110.1:c.803del
ENST00000569930.1:n.1736del
NM_000548.3:c.4621del , LRG_487t1:c.4621del	NP_000539.2:p.Asp1541ThrfsTer?
NM_001077183.1:c.4420del	NP_001070651.1:p.Asp1474ThrfsTer?
NM_001114382.1:c.4552del	NP_001107854.1:p.Asp1518ThrfsTer?
XM_005255529.3:c.4492del	XP_005255586.2:p.Asp1498ThrfsTer?
XM_005255531.3:c.4423del	XP_005255588.2:p.Asp1475ThrfsTer?
XM_011522636.1:c.4675del	XP_011520938.1:p.Asp1559ThrfsTer?
XM_011522637.1:c.4672del	XP_011520939.1:p.Asp1558ThrfsTer?
XM_011522638.1:c.4564del	XP_011520940.1:p.Asp1522ThrfsTer?
XM_011522639.1:c.4546del	XP_011520941.1:p.Asp1516ThrfsTer?
XM_011522640.1:c.4543del	XP_011520942.1:p.Asp1515ThrfsTer?
XM_011522641.1:c.4312del	XP_011520943.1:p.Asp1438ThrfsTer?
NM_000548.4:c.4621del	NP_000539.2:p.Asp1541ThrfsTer?
NM_001077183.2:c.4420del	NP_001070651.1:p.Asp1474ThrfsTer?
NM_001114382.2:c.4552del	NP_001107854.1:p.Asp1518ThrfsTer?
NM_001318827.1:c.4312del	NP_001305756.1:p.Asp1438ThrfsTer?
NM_001318829.1:c.4276del	NP_001305758.1:p.Asp1426ThrfsTer?
NM_001318831.1:c.3889del	NP_001305760.1:p.Asp1297ThrfsTer?
NM_001318832.1:c.4453del	NP_001305761.1:p.Asp1485ThrfsTer?
NM_001363528.1:c.4423del	NP_001350457.1:p.Asp1475ThrfsTer?
NM_021055.2:c.4492del	NP_066399.2:p.Asp1498ThrfsTer?
XM_005255531.4:c.4423del	XP_005255588.2:p.Asp1475ThrfsTer?
XM_011522636.2:c.4675del	XP_011520938.1:p.Asp1559ThrfsTer?
XM_011522637.2:c.4672del	XP_011520939.1:p.Asp1558ThrfsTer?
XM_011522638.2:c.4837del	XP_011520940.2:p.Asp1613ThrfsTer?
XM_011522639.2:c.4546del	XP_011520941.1:p.Asp1516ThrfsTer?
XM_011522640.2:c.4543del	XP_011520942.1:p.Asp1515ThrfsTer?
XM_017023615.1:c.4618del	XP_016879104.1:p.Asp1540ThrfsTer?
XM_017023616.1:c.4489del	XP_016879105.1:p.Asp1497ThrfsTer?
XM_017023617.1:c.4585del	XP_016879106.1:p.Asp1529ThrfsTer?
XM_017023618.1:c.3331del	XP_016879107.1:p.Asp1111ThrfsTer?
XM_024450413.1:c.4420del	XP_024306181.1:p.Asp1474ThrfsTer?
NM_000548.5:c.4621del MANE Select	NP_000539.2:p.Asp1541ThrfsTer?
NM_001370404.1:c.4489del	NP_001357333.1:p.Asp1497ThrfsTer?
NM_001370405.1:c.4492del	NP_001357334.1:p.Asp1498ThrfsTer?
NM_001077183.3:c.4420del	NP_001070651.1:p.Asp1474ThrfsTer?
NM_001114382.3:c.4552del	NP_001107854.1:p.Asp1518ThrfsTer?
NM_001318827.2:c.4312del	NP_001305756.1:p.Asp1438ThrfsTer?
NM_001318829.2:c.4276del	NP_001305758.1:p.Asp1426ThrfsTer?
NM_001318831.2:c.3889del	NP_001305760.1:p.Asp1297ThrfsTer?
NM_001318832.2:c.4453del	NP_001305761.1:p.Asp1485ThrfsTer?
NM_001363528.2:c.4423del	NP_001350457.1:p.Asp1475ThrfsTer?
NM_021055.3:c.4492del	NP_066399.2:p.Asp1498ThrfsTer?