Canonical Allele Identifier: CA020280
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084546del , CM000678.2:g.2084546del GRCh38
NC_000016.9:g.2134547del , CM000678.1:g.2134547del GRCh37
NC_000016.8:g.2074548del NCBI36
NG_005895.1:g.40241del , LRG_487:g.40241del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2673del ENSP00000455997.2:n.*2673del
ENST00000642206.2:c.4171del ENSP00000495146.2:p.Glu1391ArgfsTer?
ENST00000642365.2:c.4321del ENSP00000495459.2:p.Glu1441ArgfsTer?
ENST00000644417.2:c.*4704del ENSP00000493912.2:n.*4704del
ENST00000646464.2:c.*7073del ENSP00000496610.2:n.*7073del
ENST00000219476.9:c.4324del MANE Select ENSP00000219476.3:p.Glu1442ArgfsTer?
ENST00000350773.9:c.4255del ENSP00000344383.4:p.Glu1419ArgfsTer?
ENST00000401874.7:c.4123del ENSP00000384468.2:p.Glu1375ArgfsTer?
ENST00000568454.6:c.4156del ENSP00000454487.1:p.Glu1386ArgfsTer?
ENST00000569110.2:c.560del
ENST00000569930.2:n.2206del
ENST00000642365.1:c.2978del
ENST00000642561.1:c.4195del ENSP00000495099.1:p.Glu1399ArgfsTer?
ENST00000642728.1:n.506del
ENST00000642797.1:c.4126del ENSP00000493846.1:p.Glu1376ArgfsTer?
ENST00000642936.1:c.4192del ENSP00000494514.1:p.Glu1398ArgfsTer?
ENST00000643088.1:c.4123del ENSP00000494747.1:p.Glu1375ArgfsTer?
ENST00000643177.1:n.338del
ENST00000643426.1:n.1972del
ENST00000643946.1:c.4255del ENSP00000495927.1:p.Glu1419ArgfsTer?
ENST00000644043.1:c.4195del ENSP00000496262.1:p.Glu1399ArgfsTer?
ENST00000644329.1:c.4123del ENSP00000496611.1:p.Glu1375ArgfsTer?
ENST00000644335.1:c.4126del ENSP00000496317.1:p.Glu1376ArgfsTer?
ENST00000644399.1:c.4245del
ENST00000645024.1:n.2408del
ENST00000646388.1:c.4324del ENSP00000495921.1:p.Glu1442ArgfsTer?
ENST00000646634.1:n.3139del
ENST00000646674.1:n.1576del
ENST00000647042.1:n.1547del
ENST00000647180.1:n.1437del
ENST00000219476.7:c.4324del ENSP00000219476.3:p.Glu1442ArgfsTer?
ENST00000350773.8:c.4255del ENSP00000344383.4:p.Glu1419ArgfsTer?
ENST00000382538.10:c.3979del ENSP00000371978.6:p.Glu1327ArgfsTer?
ENST00000401874.6:c.4123del ENSP00000384468.2:p.Glu1375ArgfsTer?
ENST00000439117.6:c.*3491del ENSP00000406980.2:n.*3491del
ENST00000439673.6:c.4015del ENSP00000399232.2:p.Glu1339ArgfsTer?
ENST00000497886.5:n.2082del
ENST00000568454.5:c.4156del ENSP00000454487.1:p.Glu1386ArgfsTer?
ENST00000569110.1:c.506del
ENST00000569930.1:n.1439del
NM_000548.3:c.4324del , LRG_487t1:c.4324del NP_000539.2:p.Glu1442ArgfsTer?
NM_001077183.1:c.4123del NP_001070651.1:p.Glu1375ArgfsTer?
NM_001114382.1:c.4255del NP_001107854.1:p.Glu1419ArgfsTer?
XM_005255529.3:c.4195del XP_005255586.2:p.Glu1399ArgfsTer?
XM_005255531.3:c.4126del XP_005255588.2:p.Glu1376ArgfsTer?
XM_011522636.1:c.4378del XP_011520938.1:p.Glu1460ArgfsTer?
XM_011522637.1:c.4375del XP_011520939.1:p.Glu1459ArgfsTer?
XM_011522638.1:c.4267del XP_011520940.1:p.Glu1423ArgfsTer?
XM_011522639.1:c.4249del XP_011520941.1:p.Glu1417ArgfsTer?
XM_011522640.1:c.4246del XP_011520942.1:p.Glu1416ArgfsTer?
XM_011522641.1:c.4015del XP_011520943.1:p.Glu1339ArgfsTer?
NM_000548.4:c.4324del NP_000539.2:p.Glu1442ArgfsTer?
NM_001077183.2:c.4123del NP_001070651.1:p.Glu1375ArgfsTer?
NM_001114382.2:c.4255del NP_001107854.1:p.Glu1419ArgfsTer?
NM_001318827.1:c.4015del NP_001305756.1:p.Glu1339ArgfsTer?
NM_001318829.1:c.3979del NP_001305758.1:p.Glu1327ArgfsTer?
NM_001318831.1:c.3592del NP_001305760.1:p.Glu1198ArgfsTer?
NM_001318832.1:c.4156del NP_001305761.1:p.Glu1386ArgfsTer?
NM_001363528.1:c.4126del NP_001350457.1:p.Glu1376ArgfsTer?
NM_021055.2:c.4195del NP_066399.2:p.Glu1399ArgfsTer?
XM_005255531.4:c.4126del XP_005255588.2:p.Glu1376ArgfsTer?
XM_011522636.2:c.4378del XP_011520938.1:p.Glu1460ArgfsTer?
XM_011522637.2:c.4375del XP_011520939.1:p.Glu1459ArgfsTer?
XM_011522638.2:c.4540del XP_011520940.2:p.Glu1514ArgfsTer?
XM_011522639.2:c.4249del XP_011520941.1:p.Glu1417ArgfsTer?
XM_011522640.2:c.4246del XP_011520942.1:p.Glu1416ArgfsTer?
XM_017023615.1:c.4321del XP_016879104.1:p.Glu1441ArgfsTer?
XM_017023616.1:c.4192del XP_016879105.1:p.Glu1398ArgfsTer?
XM_017023617.1:c.4288del XP_016879106.1:p.Glu1430ArgfsTer?
XM_017023618.1:c.3034del XP_016879107.1:p.Glu1012ArgfsTer?
XM_024450413.1:c.4123del XP_024306181.1:p.Glu1375ArgfsTer?
NM_000548.5:c.4324del MANE Select NP_000539.2:p.Glu1442ArgfsTer?
NM_001370404.1:c.4192del NP_001357333.1:p.Glu1398ArgfsTer?
NM_001370405.1:c.4195del NP_001357334.1:p.Glu1399ArgfsTer?
NM_001077183.3:c.4123del NP_001070651.1:p.Glu1375ArgfsTer?
NM_001114382.3:c.4255del NP_001107854.1:p.Glu1419ArgfsTer?
NM_001318827.2:c.4015del NP_001305756.1:p.Glu1339ArgfsTer?
NM_001318829.2:c.3979del NP_001305758.1:p.Glu1327ArgfsTer?
NM_001318831.2:c.3592del NP_001305760.1:p.Glu1198ArgfsTer?
NM_001318832.2:c.4156del NP_001305761.1:p.Glu1386ArgfsTer?
NM_001363528.2:c.4126del NP_001350457.1:p.Glu1376ArgfsTer?
NM_021055.3:c.4195del NP_066399.2:p.Glu1399ArgfsTer?