Canonical Allele Identifier: CA16620102
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419103
ClinVar RCV Id: RCV000479318
dbSNP Id: rs1064793646

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086763del , CM000678.2:g.2086763del GRCh38
NC_000016.9:g.2136764del , CM000678.1:g.2136764del GRCh37
NC_000016.8:g.2076765del NCBI36
NG_005895.1:g.42458del , LRG_487:g.42458del
NG_008617.1:g.56459del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*3230del ENSP00000455997.2:n.*3230del
ENST00000642206.2:c.4728del ENSP00000495146.2:p.Lys1577ArgfsTer?
ENST00000642365.2:c.4878del ENSP00000495459.2:p.Lys1627ArgfsTer?
ENST00000644417.2:c.*5394del ENSP00000493912.2:n.*5394del
ENST00000646464.2:c.*7630del ENSP00000496610.2:n.*7630del
ENST00000219476.9:c.4881del MANE Select ENSP00000219476.3:p.Lys1628ArgfsTer?
ENST00000350773.9:c.4812del ENSP00000344383.4:p.Lys1605ArgfsTer?
ENST00000401874.7:c.4680del ENSP00000384468.2:p.Lys1561ArgfsTer?
ENST00000568454.6:c.4713del ENSP00000454487.1:p.Lys1572ArgfsTer?
ENST00000569110.2:c.1104del
ENST00000569930.2:n.2763del
ENST00000642365.1:c.3535del
ENST00000642561.1:c.4752del ENSP00000495099.1:p.Lys1585ArgfsTer?
ENST00000642728.1:n.1063del
ENST00000642791.1:n.478del
ENST00000642797.1:c.4683del ENSP00000493846.1:p.Lys1562ArgfsTer?
ENST00000642936.1:c.4749del ENSP00000494514.1:p.Lys1584ArgfsTer?
ENST00000643088.1:c.4674del ENSP00000494747.1:p.Lys1559ArgfsTer?
ENST00000643177.1:n.895del
ENST00000643426.1:n.2529del
ENST00000643946.1:c.4806del ENSP00000495927.1:p.Lys1603ArgfsTer?
ENST00000644043.1:c.4752del ENSP00000496262.1:p.Lys1585ArgfsTer?
ENST00000644278.1:n.363del
ENST00000644329.1:c.4680del ENSP00000496611.1:p.Lys1561ArgfsTer?
ENST00000644335.1:c.4677del ENSP00000496317.1:p.Lys1560ArgfsTer?
ENST00000644399.1:c.4802del
ENST00000645024.1:n.2965del
ENST00000646388.1:c.4875del ENSP00000495921.1:p.Lys1626ArgfsTer?
ENST00000646557.1:n.42del
ENST00000646634.1:n.3696del
ENST00000646674.1:n.2133del
ENST00000647042.1:n.2104del
ENST00000647180.1:n.1994del
ENST00000219476.7:c.4881del ENSP00000219476.3:p.Lys1628ArgfsTer?
ENST00000350773.8:c.4812del ENSP00000344383.4:p.Lys1605ArgfsTer?
ENST00000382538.10:c.4536del ENSP00000371978.6:p.Lys1513ArgfsTer?
ENST00000401874.6:c.4680del ENSP00000384468.2:p.Lys1561ArgfsTer?
ENST00000439117.6:c.*4048del ENSP00000406980.2:n.*4048del
ENST00000439673.6:c.4572del ENSP00000399232.2:p.Lys1525ArgfsTer?
ENST00000497886.5:n.2608-4del
ENST00000568454.5:c.4713del ENSP00000454487.1:p.Lys1572ArgfsTer?
ENST00000569110.1:c.1063del
ENST00000569930.1:n.1996del
NM_000548.3:c.4881del , LRG_487t1:c.4881del NP_000539.2:p.Lys1628ArgfsTer?
NM_001077183.1:c.4680del NP_001070651.1:p.Lys1561ArgfsTer?
NM_001114382.1:c.4812del NP_001107854.1:p.Lys1605ArgfsTer?
XM_005255529.3:c.4752del XP_005255586.2:p.Lys1585ArgfsTer?
XM_005255531.3:c.4683del XP_005255588.2:p.Lys1562ArgfsTer?
XM_011522636.1:c.4935del XP_011520938.1:p.Lys1646ArgfsTer?
XM_011522637.1:c.4932del XP_011520939.1:p.Lys1645ArgfsTer?
XM_011522638.1:c.4824del XP_011520940.1:p.Lys1609ArgfsTer?
XM_011522639.1:c.4806del XP_011520941.1:p.Lys1603ArgfsTer?
XM_011522640.1:c.4803del XP_011520942.1:p.Lys1602ArgfsTer?
XM_011522641.1:c.4572del XP_011520943.1:p.Lys1525ArgfsTer?
NM_000548.4:c.4881del NP_000539.2:p.Lys1628ArgfsTer?
NM_001077183.2:c.4680del NP_001070651.1:p.Lys1561ArgfsTer?
NM_001114382.2:c.4812del NP_001107854.1:p.Lys1605ArgfsTer?
NM_001318827.1:c.4572del NP_001305756.1:p.Lys1525ArgfsTer?
NM_001318829.1:c.4536del NP_001305758.1:p.Lys1513ArgfsTer?
NM_001318831.1:c.4149del NP_001305760.1:p.Lys1384ArgfsTer?
NM_001318832.1:c.4713del NP_001305761.1:p.Lys1572ArgfsTer?
NM_001363528.1:c.4683del NP_001350457.1:p.Lys1562ArgfsTer?
NM_021055.2:c.4752del NP_066399.2:p.Lys1585ArgfsTer?
XM_005255531.4:c.4683del XP_005255588.2:p.Lys1562ArgfsTer?
XM_011522636.2:c.4935del XP_011520938.1:p.Lys1646ArgfsTer?
XM_011522637.2:c.4932del XP_011520939.1:p.Lys1645ArgfsTer?
XM_011522638.2:c.5097del XP_011520940.2:p.Lys1700ArgfsTer?
XM_011522639.2:c.4806del XP_011520941.1:p.Lys1603ArgfsTer?
XM_011522640.2:c.4803del XP_011520942.1:p.Lys1602ArgfsTer?
XM_017023615.1:c.4878del XP_016879104.1:p.Lys1627ArgfsTer?
XM_017023616.1:c.4749del XP_016879105.1:p.Lys1584ArgfsTer?
XM_017023617.1:c.4845del XP_016879106.1:p.Lys1616ArgfsTer?
XM_017023618.1:c.3591del XP_016879107.1:p.Lys1198ArgfsTer?
XM_024450413.1:c.4680del XP_024306181.1:p.Lys1561ArgfsTer?
NM_000548.5:c.4881del MANE Select NP_000539.2:p.Lys1628ArgfsTer?
NM_001370404.1:c.4749del NP_001357333.1:p.Lys1584ArgfsTer?
NM_001370405.1:c.4752del NP_001357334.1:p.Lys1585ArgfsTer?
NM_001077183.3:c.4680del NP_001070651.1:p.Lys1561ArgfsTer?
NM_001114382.3:c.4812del NP_001107854.1:p.Lys1605ArgfsTer?
NM_001318827.2:c.4572del NP_001305756.1:p.Lys1525ArgfsTer?
NM_001318829.2:c.4536del NP_001305758.1:p.Lys1513ArgfsTer?
NM_001318831.2:c.4149del NP_001305760.1:p.Lys1384ArgfsTer?
NM_001318832.2:c.4713del NP_001305761.1:p.Lys1572ArgfsTer?
NM_001363528.2:c.4683del NP_001350457.1:p.Lys1562ArgfsTer?
NM_021055.3:c.4752del NP_066399.2:p.Lys1585ArgfsTer?