Canonical Allele Identifier: CA2573151646

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1444646
• ClinVar RCV Id: RCV001982520
• dbSNP Id: rs137854327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084545del , CM000678.2:g.2084545del	GRCh38
NC_000016.9:g.2134546del , CM000678.1:g.2134546del	GRCh37
NC_000016.8:g.2074547del	NCBI36
NG_005895.1:g.40240del , LRG_487:g.40240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2672del	ENSP00000455997.2:n.*2672del
ENST00000642206.2:c.4170del	ENSP00000495146.2:p.Glu1391ArgfsTer?
ENST00000642365.2:c.4320del	ENSP00000495459.2:p.Glu1441ArgfsTer?
ENST00000644417.2:c.*4703del	ENSP00000493912.2:n.*4703del
ENST00000646464.2:c.*7072del	ENSP00000496610.2:n.*7072del
ENST00000219476.9:c.4323del MANE Select	ENSP00000219476.3:p.Glu1442ArgfsTer?
ENST00000350773.9:c.4254del	ENSP00000344383.4:p.Glu1419ArgfsTer?
ENST00000401874.7:c.4122del	ENSP00000384468.2:p.Glu1375ArgfsTer?
ENST00000568454.6:c.4155del	ENSP00000454487.1:p.Glu1386ArgfsTer?
ENST00000569110.2:c.559del
ENST00000569930.2:n.2205del
ENST00000642365.1:c.2977del
ENST00000642561.1:c.4194del	ENSP00000495099.1:p.Glu1399ArgfsTer?
ENST00000642728.1:n.505del
ENST00000642797.1:c.4125del	ENSP00000493846.1:p.Glu1376ArgfsTer?
ENST00000642936.1:c.4191del	ENSP00000494514.1:p.Glu1398ArgfsTer?
ENST00000643088.1:c.4122del	ENSP00000494747.1:p.Glu1375ArgfsTer?
ENST00000643177.1:n.337del
ENST00000643426.1:n.1971del
ENST00000643946.1:c.4254del	ENSP00000495927.1:p.Glu1419ArgfsTer?
ENST00000644043.1:c.4194del	ENSP00000496262.1:p.Glu1399ArgfsTer?
ENST00000644329.1:c.4122del	ENSP00000496611.1:p.Glu1375ArgfsTer?
ENST00000644335.1:c.4125del	ENSP00000496317.1:p.Glu1376ArgfsTer?
ENST00000644399.1:c.4244del
ENST00000645024.1:n.2407del
ENST00000646388.1:c.4323del	ENSP00000495921.1:p.Glu1442ArgfsTer?
ENST00000646634.1:n.3138del
ENST00000646674.1:n.1575del
ENST00000647042.1:n.1546del
ENST00000647180.1:n.1436del
ENST00000219476.7:c.4323del	ENSP00000219476.3:p.Glu1442ArgfsTer?
ENST00000350773.8:c.4254del	ENSP00000344383.4:p.Glu1419ArgfsTer?
ENST00000382538.10:c.3978del	ENSP00000371978.6:p.Glu1327ArgfsTer?
ENST00000401874.6:c.4122del	ENSP00000384468.2:p.Glu1375ArgfsTer?
ENST00000439117.6:c.*3490del	ENSP00000406980.2:n.*3490del
ENST00000439673.6:c.4014del	ENSP00000399232.2:p.Glu1339ArgfsTer?
ENST00000497886.5:n.2081del
ENST00000568454.5:c.4155del	ENSP00000454487.1:p.Glu1386ArgfsTer?
ENST00000569110.1:c.505del
ENST00000569930.1:n.1438del
NM_000548.3:c.4323del , LRG_487t1:c.4323del	NP_000539.2:p.Glu1442ArgfsTer?
NM_001077183.1:c.4122del	NP_001070651.1:p.Glu1375ArgfsTer?
NM_001114382.1:c.4254del	NP_001107854.1:p.Glu1419ArgfsTer?
XM_005255529.3:c.4194del	XP_005255586.2:p.Glu1399ArgfsTer?
XM_005255531.3:c.4125del	XP_005255588.2:p.Glu1376ArgfsTer?
XM_011522636.1:c.4377del	XP_011520938.1:p.Glu1460ArgfsTer?
XM_011522637.1:c.4374del	XP_011520939.1:p.Glu1459ArgfsTer?
XM_011522638.1:c.4266del	XP_011520940.1:p.Glu1423ArgfsTer?
XM_011522639.1:c.4248del	XP_011520941.1:p.Glu1417ArgfsTer?
XM_011522640.1:c.4245del	XP_011520942.1:p.Glu1416ArgfsTer?
XM_011522641.1:c.4014del	XP_011520943.1:p.Glu1339ArgfsTer?
NM_000548.4:c.4323del	NP_000539.2:p.Glu1442ArgfsTer?
NM_001077183.2:c.4122del	NP_001070651.1:p.Glu1375ArgfsTer?
NM_001114382.2:c.4254del	NP_001107854.1:p.Glu1419ArgfsTer?
NM_001318827.1:c.4014del	NP_001305756.1:p.Glu1339ArgfsTer?
NM_001318829.1:c.3978del	NP_001305758.1:p.Glu1327ArgfsTer?
NM_001318831.1:c.3591del	NP_001305760.1:p.Glu1198ArgfsTer?
NM_001318832.1:c.4155del	NP_001305761.1:p.Glu1386ArgfsTer?
NM_001363528.1:c.4125del	NP_001350457.1:p.Glu1376ArgfsTer?
NM_021055.2:c.4194del	NP_066399.2:p.Glu1399ArgfsTer?
XM_005255531.4:c.4125del	XP_005255588.2:p.Glu1376ArgfsTer?
XM_011522636.2:c.4377del	XP_011520938.1:p.Glu1460ArgfsTer?
XM_011522637.2:c.4374del	XP_011520939.1:p.Glu1459ArgfsTer?
XM_011522638.2:c.4539del	XP_011520940.2:p.Glu1514ArgfsTer?
XM_011522639.2:c.4248del	XP_011520941.1:p.Glu1417ArgfsTer?
XM_011522640.2:c.4245del	XP_011520942.1:p.Glu1416ArgfsTer?
XM_017023615.1:c.4320del	XP_016879104.1:p.Glu1441ArgfsTer?
XM_017023616.1:c.4191del	XP_016879105.1:p.Glu1398ArgfsTer?
XM_017023617.1:c.4287del	XP_016879106.1:p.Glu1430ArgfsTer?
XM_017023618.1:c.3033del	XP_016879107.1:p.Glu1012ArgfsTer?
XM_024450413.1:c.4122del	XP_024306181.1:p.Glu1375ArgfsTer?
NM_000548.5:c.4323del MANE Select	NP_000539.2:p.Glu1442ArgfsTer?
NM_001370404.1:c.4191del	NP_001357333.1:p.Glu1398ArgfsTer?
NM_001370405.1:c.4194del	NP_001357334.1:p.Glu1399ArgfsTer?
NM_001077183.3:c.4122del	NP_001070651.1:p.Glu1375ArgfsTer?
NM_001114382.3:c.4254del	NP_001107854.1:p.Glu1419ArgfsTer?
NM_001318827.2:c.4014del	NP_001305756.1:p.Glu1339ArgfsTer?
NM_001318829.2:c.3978del	NP_001305758.1:p.Glu1327ArgfsTer?
NM_001318831.2:c.3591del	NP_001305760.1:p.Glu1198ArgfsTer?
NM_001318832.2:c.4155del	NP_001305761.1:p.Glu1386ArgfsTer?
NM_001363528.2:c.4125del	NP_001350457.1:p.Glu1376ArgfsTer?
NM_021055.3:c.4194del	NP_066399.2:p.Glu1399ArgfsTer?