Canonical Allele Identifier: CA020800
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12392
dbSNP Id: rs137854083

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085302del , CM000678.2:g.2085302del GRCh38
NC_000016.9:g.2135303del , CM000678.1:g.2135303del GRCh37
NC_000016.8:g.2075304del NCBI36
NG_005895.1:g.40997del , LRG_487:g.40997del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2991del ENSP00000455997.2:n.*2991del
ENST00000642206.2:c.4489del ENSP00000495146.2:p.Leu1497CysfsTer28
ENST00000642365.2:c.4639del ENSP00000495459.2:p.Leu1547CysfsTer28
ENST00000644417.2:c.*5022del ENSP00000493912.2:n.*5022del
ENST00000646464.2:c.*7391del ENSP00000496610.2:n.*7391del
ENST00000219476.9:c.4642del MANE Select ENSP00000219476.3:p.Leu1548CysfsTer28
ENST00000350773.9:c.4573del ENSP00000344383.4:p.Leu1525CysfsTer28
ENST00000401874.7:c.4441del ENSP00000384468.2:p.Leu1481CysfsTer28
ENST00000568454.6:c.4474del ENSP00000454487.1:p.Leu1492CysfsTer28
ENST00000569110.2:c.865del
ENST00000569930.2:n.2524del
ENST00000642365.1:c.3296del
ENST00000642561.1:c.4513del ENSP00000495099.1:p.Leu1505CysfsTer28
ENST00000642728.1:n.824del
ENST00000642791.1:n.239del
ENST00000642797.1:c.4444del ENSP00000493846.1:p.Leu1482CysfsTer28
ENST00000642936.1:c.4510del ENSP00000494514.1:p.Leu1504CysfsTer28
ENST00000643088.1:c.4435del ENSP00000494747.1:p.Leu1479CysfsTer28
ENST00000643177.1:n.656del
ENST00000643426.1:n.2290del
ENST00000643946.1:c.4567del ENSP00000495927.1:p.Leu1523CysfsTer28
ENST00000644043.1:c.4513del ENSP00000496262.1:p.Leu1505CysfsTer28
ENST00000644278.1:n.124del
ENST00000644329.1:c.4441del ENSP00000496611.1:p.Leu1481CysfsTer28
ENST00000644335.1:c.4438del ENSP00000496317.1:p.Leu1480CysfsTer28
ENST00000644399.1:c.4563del
ENST00000645024.1:n.2726del
ENST00000646388.1:c.4636del ENSP00000495921.1:p.Leu1546CysfsTer28
ENST00000646634.1:n.3457del
ENST00000646674.1:n.1894del
ENST00000647042.1:n.1865del
ENST00000647180.1:n.1755del
ENST00000219476.7:c.4642del ENSP00000219476.3:p.Leu1548CysfsTer28
ENST00000350773.8:c.4573del ENSP00000344383.4:p.Leu1525CysfsTer28
ENST00000382538.10:c.4297del ENSP00000371978.6:p.Leu1433CysfsTer28
ENST00000401874.6:c.4441del ENSP00000384468.2:p.Leu1481CysfsTer28
ENST00000439117.6:c.*3809del ENSP00000406980.2:n.*3809del
ENST00000439673.6:c.4333del ENSP00000399232.2:p.Leu1445CysfsTer28
ENST00000497886.5:n.2400del
ENST00000568454.5:c.4474del ENSP00000454487.1:p.Leu1492CysfsTer28
ENST00000569110.1:c.824del
ENST00000569930.1:n.1757del
NM_000548.3:c.4642del , LRG_487t1:c.4642del NP_000539.2:p.Leu1548CysfsTer28
NM_001077183.1:c.4441del NP_001070651.1:p.Leu1481CysfsTer28
NM_001114382.1:c.4573del NP_001107854.1:p.Leu1525CysfsTer28
XM_005255529.3:c.4513del XP_005255586.2:p.Leu1505CysfsTer28
XM_005255531.3:c.4444del XP_005255588.2:p.Leu1482CysfsTer28
XM_011522636.1:c.4696del XP_011520938.1:p.Leu1566CysfsTer28
XM_011522637.1:c.4693del XP_011520939.1:p.Leu1565CysfsTer28
XM_011522638.1:c.4585del XP_011520940.1:p.Leu1529CysfsTer28
XM_011522639.1:c.4567del XP_011520941.1:p.Leu1523CysfsTer28
XM_011522640.1:c.4564del XP_011520942.1:p.Leu1522CysfsTer28
XM_011522641.1:c.4333del XP_011520943.1:p.Leu1445CysfsTer28
NM_000548.4:c.4642del NP_000539.2:p.Leu1548CysfsTer28
NM_001077183.2:c.4441del NP_001070651.1:p.Leu1481CysfsTer28
NM_001114382.2:c.4573del NP_001107854.1:p.Leu1525CysfsTer28
NM_001318827.1:c.4333del NP_001305756.1:p.Leu1445CysfsTer28
NM_001318829.1:c.4297del NP_001305758.1:p.Leu1433CysfsTer28
NM_001318831.1:c.3910del NP_001305760.1:p.Leu1304CysfsTer28
NM_001318832.1:c.4474del NP_001305761.1:p.Leu1492CysfsTer28
NM_001363528.1:c.4444del NP_001350457.1:p.Leu1482CysfsTer28
NM_021055.2:c.4513del NP_066399.2:p.Leu1505CysfsTer28
XM_005255531.4:c.4444del XP_005255588.2:p.Leu1482CysfsTer28
XM_011522636.2:c.4696del XP_011520938.1:p.Leu1566CysfsTer28
XM_011522637.2:c.4693del XP_011520939.1:p.Leu1565CysfsTer28
XM_011522638.2:c.4858del XP_011520940.2:p.Leu1620CysfsTer28
XM_011522639.2:c.4567del XP_011520941.1:p.Leu1523CysfsTer28
XM_011522640.2:c.4564del XP_011520942.1:p.Leu1522CysfsTer28
XM_017023615.1:c.4639del XP_016879104.1:p.Leu1547CysfsTer28
XM_017023616.1:c.4510del XP_016879105.1:p.Leu1504CysfsTer28
XM_017023617.1:c.4606del XP_016879106.1:p.Leu1536CysfsTer28
XM_017023618.1:c.3352del XP_016879107.1:p.Leu1118CysfsTer28
XM_024450413.1:c.4441del XP_024306181.1:p.Leu1481CysfsTer28
NM_000548.5:c.4642del MANE Select NP_000539.2:p.Leu1548CysfsTer28
NM_001370404.1:c.4510del NP_001357333.1:p.Leu1504CysfsTer28
NM_001370405.1:c.4513del NP_001357334.1:p.Leu1505CysfsTer28
NM_001077183.3:c.4441del NP_001070651.1:p.Leu1481CysfsTer28
NM_001114382.3:c.4573del NP_001107854.1:p.Leu1525CysfsTer28
NM_001318827.2:c.4333del NP_001305756.1:p.Leu1445CysfsTer28
NM_001318829.2:c.4297del NP_001305758.1:p.Leu1433CysfsTer28
NM_001318831.2:c.3910del NP_001305760.1:p.Leu1304CysfsTer28
NM_001318832.2:c.4474del NP_001305761.1:p.Leu1492CysfsTer28
NM_001363528.2:c.4444del NP_001350457.1:p.Leu1482CysfsTer28
NM_021055.3:c.4513del NP_066399.2:p.Leu1505CysfsTer28