Canonical Allele Identifier: CA020052
Gene: TSC2 HGNC NCBI

Linked Data

dbSNP Id: rs137854363
COSMIC: COSM4745628
MyVariant Identifiers: chr16:g.2134403_2134404del (hg19) chr16:g.2084402_2084403del (hg38)
PubMed: PMID:10607950 PMID:16554133
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084402_2084403del , CM000678.2:g.2084402_2084403del GRCh38
NC_000016.9:g.2134403_2134404del , CM000678.1:g.2134403_2134404del GRCh37
NC_000016.8:g.2074404_2074405del NCBI36
NG_005895.1:g.40097_40098del , LRG_487:g.40097_40098del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2529_*2530del ENSP00000455997.2:n.*2529_*2530del
ENST00000642206.2:c.4027_4028del ENSP00000495146.2:p.Leu1343AlafsTer19
ENST00000642365.2:c.4177_4178del ENSP00000495459.2:p.Leu1393AlafsTer19
ENST00000644417.2:c.*4560_*4561del ENSP00000493912.2:n.*4560_*4561del
ENST00000646464.2:c.*6929_*6930del ENSP00000496610.2:n.*6929_*6930del
ENST00000219476.9:c.4180_4181del MANE Select ENSP00000219476.3:p.Leu1394AlafsTer19
ENST00000350773.9:c.4111_4112del ENSP00000344383.4:p.Leu1371AlafsTer19
ENST00000401874.7:c.3979_3980del ENSP00000384468.2:p.Leu1327AlafsTer19
ENST00000568454.6:c.4012_4013del ENSP00000454487.1:p.Leu1338AlafsTer19
ENST00000569110.2:c.416_417del
ENST00000569930.2:n.2062_2063del
ENST00000642365.1:c.2834_2835del
ENST00000642561.1:c.4051_4052del ENSP00000495099.1:p.Leu1351AlafsTer19
ENST00000642728.1:n.362_363del
ENST00000642797.1:c.3982_3983del ENSP00000493846.1:p.Leu1328AlafsTer19
ENST00000642936.1:c.4048_4049del ENSP00000494514.1:p.Leu1350AlafsTer19
ENST00000643088.1:c.3979_3980del ENSP00000494747.1:p.Leu1327AlafsTer19
ENST00000643177.1:n.194_195del
ENST00000643426.1:n.1828_1829del
ENST00000643946.1:c.4111_4112del ENSP00000495927.1:p.Leu1371AlafsTer19
ENST00000644043.1:c.4051_4052del ENSP00000496262.1:p.Leu1351AlafsTer19
ENST00000644329.1:c.3979_3980del ENSP00000496611.1:p.Leu1327AlafsTer19
ENST00000644335.1:c.3982_3983del ENSP00000496317.1:p.Leu1328AlafsTer19
ENST00000644399.1:c.4101_4102del
ENST00000645024.1:n.2264_2265del
ENST00000645186.1:c.423_424del
ENST00000646388.1:c.4180_4181del ENSP00000495921.1:p.Leu1394AlafsTer19
ENST00000646634.1:n.2995_2996del
ENST00000646674.1:n.1432_1433del
ENST00000647042.1:n.1403_1404del
ENST00000647180.1:n.1293_1294del
ENST00000219476.7:c.4180_4181del ENSP00000219476.3:p.Leu1394AlafsTer19
ENST00000350773.8:c.4111_4112del ENSP00000344383.4:p.Leu1371AlafsTer19
ENST00000382538.10:c.3835_3836del ENSP00000371978.6:p.Leu1279AlafsTer19
ENST00000401874.6:c.3979_3980del ENSP00000384468.2:p.Leu1327AlafsTer19
ENST00000439117.6:c.*3347_*3348del ENSP00000406980.2:n.*3347_*3348del
ENST00000439673.6:c.3871_3872del ENSP00000399232.2:p.Leu1291AlafsTer19
ENST00000497886.5:n.1938_1939del
ENST00000568454.5:c.4012_4013del ENSP00000454487.1:p.Leu1338AlafsTer19
ENST00000569110.1:c.362_363del
ENST00000569930.1:n.1295_1296del
NM_000548.3:c.4180_4181del , LRG_487t1:c.4180_4181del NP_000539.2:p.Leu1394AlafsTer19
NM_001077183.1:c.3979_3980del NP_001070651.1:p.Leu1327AlafsTer19
NM_001114382.1:c.4111_4112del NP_001107854.1:p.Leu1371AlafsTer19
XM_005255529.3:c.4051_4052del XP_005255586.2:p.Leu1351AlafsTer19
XM_005255531.3:c.3982_3983del XP_005255588.2:p.Leu1328AlafsTer19
XM_011522636.1:c.4234_4235del XP_011520938.1:p.Leu1412AlafsTer19
XM_011522637.1:c.4231_4232del XP_011520939.1:p.Leu1411AlafsTer19
XM_011522638.1:c.4123_4124del XP_011520940.1:p.Leu1375AlafsTer19
XM_011522639.1:c.4105_4106del XP_011520941.1:p.Leu1369AlafsTer19
XM_011522640.1:c.4102_4103del XP_011520942.1:p.Leu1368AlafsTer19
XM_011522641.1:c.3871_3872del XP_011520943.1:p.Leu1291AlafsTer19
NM_000548.4:c.4180_4181del NP_000539.2:p.Leu1394AlafsTer19
NM_001077183.2:c.3979_3980del NP_001070651.1:p.Leu1327AlafsTer19
NM_001114382.2:c.4111_4112del NP_001107854.1:p.Leu1371AlafsTer19
NM_001318827.1:c.3871_3872del NP_001305756.1:p.Leu1291AlafsTer19
NM_001318829.1:c.3835_3836del NP_001305758.1:p.Leu1279AlafsTer19
NM_001318831.1:c.3448_3449del NP_001305760.1:p.Leu1150AlafsTer19
NM_001318832.1:c.4012_4013del NP_001305761.1:p.Leu1338AlafsTer19
NM_001363528.1:c.3982_3983del NP_001350457.1:p.Leu1328AlafsTer19
NM_021055.2:c.4051_4052del NP_066399.2:p.Leu1351AlafsTer19
XM_005255531.4:c.3982_3983del XP_005255588.2:p.Leu1328AlafsTer19
XM_011522636.2:c.4234_4235del XP_011520938.1:p.Leu1412AlafsTer19
XM_011522637.2:c.4231_4232del XP_011520939.1:p.Leu1411AlafsTer19
XM_011522638.2:c.4396_4397del XP_011520940.2:p.Leu1466AlafsTer19
XM_011522639.2:c.4105_4106del XP_011520941.1:p.Leu1369AlafsTer19
XM_011522640.2:c.4102_4103del XP_011520942.1:p.Leu1368AlafsTer19
XM_017023615.1:c.4177_4178del XP_016879104.1:p.Leu1393AlafsTer19
XM_017023616.1:c.4048_4049del XP_016879105.1:p.Leu1350AlafsTer19
XM_017023617.1:c.4144_4145del XP_016879106.1:p.Leu1382AlafsTer19
XM_017023618.1:c.2890_2891del XP_016879107.1:p.Leu964AlafsTer19
XM_024450413.1:c.3979_3980del XP_024306181.1:p.Leu1327AlafsTer19
NM_000548.5:c.4180_4181del MANE Select NP_000539.2:p.Leu1394AlafsTer19
NM_001370404.1:c.4048_4049del NP_001357333.1:p.Leu1350AlafsTer19
NM_001370405.1:c.4051_4052del NP_001357334.1:p.Leu1351AlafsTer19
NM_001077183.3:c.3979_3980del NP_001070651.1:p.Leu1327AlafsTer19
NM_001114382.3:c.4111_4112del NP_001107854.1:p.Leu1371AlafsTer19
NM_001318827.2:c.3871_3872del NP_001305756.1:p.Leu1291AlafsTer19
NM_001318829.2:c.3835_3836del NP_001305758.1:p.Leu1279AlafsTer19
NM_001318831.2:c.3448_3449del NP_001305760.1:p.Leu1150AlafsTer19
NM_001318832.2:c.4012_4013del NP_001305761.1:p.Leu1338AlafsTer19
NM_001363528.2:c.3982_3983del NP_001350457.1:p.Leu1328AlafsTer19
NM_021055.3:c.4051_4052del NP_066399.2:p.Leu1351AlafsTer19
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