Canonical Allele Identifier: CA020090
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49813
dbSNP Id: rs137854427

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084445del , CM000678.2:g.2084445del GRCh38
NC_000016.9:g.2134446del , CM000678.1:g.2134446del GRCh37
NC_000016.8:g.2074447del NCBI36
NG_005895.1:g.40140del , LRG_487:g.40140del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2572del ENSP00000455997.2:n.*2572del
ENST00000642206.2:c.4070del ENSP00000495146.2:p.Gly1357AlafsTer3
ENST00000642365.2:c.4220del ENSP00000495459.2:p.Gly1407AlafsTer3
ENST00000644417.2:c.*4603del ENSP00000493912.2:n.*4603del
ENST00000646464.2:c.*6972del ENSP00000496610.2:n.*6972del
ENST00000219476.9:c.4223del MANE Select ENSP00000219476.3:p.Gly1408AlafsTer3
ENST00000350773.9:c.4154del ENSP00000344383.4:p.Gly1385AlafsTer3
ENST00000401874.7:c.4022del ENSP00000384468.2:p.Gly1341AlafsTer3
ENST00000568454.6:c.4055del ENSP00000454487.1:p.Gly1352AlafsTer3
ENST00000569110.2:c.459del
ENST00000569930.2:n.2105del
ENST00000642365.1:c.2877del
ENST00000642561.1:c.4094del ENSP00000495099.1:p.Gly1365AlafsTer3
ENST00000642728.1:n.405del
ENST00000642797.1:c.4025del ENSP00000493846.1:p.Gly1342AlafsTer3
ENST00000642936.1:c.4091del ENSP00000494514.1:p.Gly1364AlafsTer3
ENST00000643088.1:c.4022del ENSP00000494747.1:p.Gly1341AlafsTer3
ENST00000643177.1:n.237del
ENST00000643426.1:n.1871del
ENST00000643946.1:c.4154del ENSP00000495927.1:p.Gly1385AlafsTer3
ENST00000644043.1:c.4094del ENSP00000496262.1:p.Gly1365AlafsTer3
ENST00000644329.1:c.4022del ENSP00000496611.1:p.Gly1341AlafsTer3
ENST00000644335.1:c.4025del ENSP00000496317.1:p.Gly1342AlafsTer3
ENST00000644399.1:c.4144del
ENST00000645024.1:n.2307del
ENST00000645186.1:c.466del
ENST00000646388.1:c.4223del ENSP00000495921.1:p.Gly1408AlafsTer3
ENST00000646634.1:n.3038del
ENST00000646674.1:n.1475del
ENST00000647042.1:n.1446del
ENST00000647180.1:n.1336del
ENST00000219476.7:c.4223del ENSP00000219476.3:p.Gly1408AlafsTer3
ENST00000350773.8:c.4154del ENSP00000344383.4:p.Gly1385AlafsTer3
ENST00000382538.10:c.3878del ENSP00000371978.6:p.Gly1293AlafsTer3
ENST00000401874.6:c.4022del ENSP00000384468.2:p.Gly1341AlafsTer3
ENST00000439117.6:c.*3390del ENSP00000406980.2:n.*3390del
ENST00000439673.6:c.3914del ENSP00000399232.2:p.Gly1305AlafsTer3
ENST00000497886.5:n.1981del
ENST00000568454.5:c.4055del ENSP00000454487.1:p.Gly1352AlafsTer3
ENST00000569110.1:c.405del
ENST00000569930.1:n.1338del
NM_000548.3:c.4223del , LRG_487t1:c.4223del NP_000539.2:p.Gly1408AlafsTer3
NM_001077183.1:c.4022del NP_001070651.1:p.Gly1341AlafsTer3
NM_001114382.1:c.4154del NP_001107854.1:p.Gly1385AlafsTer3
XM_005255529.3:c.4094del XP_005255586.2:p.Gly1365AlafsTer3
XM_005255531.3:c.4025del XP_005255588.2:p.Gly1342AlafsTer3
XM_011522636.1:c.4277del XP_011520938.1:p.Gly1426AlafsTer3
XM_011522637.1:c.4274del XP_011520939.1:p.Gly1425AlafsTer3
XM_011522638.1:c.4166del XP_011520940.1:p.Gly1389AlafsTer3
XM_011522639.1:c.4148del XP_011520941.1:p.Gly1383AlafsTer3
XM_011522640.1:c.4145del XP_011520942.1:p.Gly1382AlafsTer3
XM_011522641.1:c.3914del XP_011520943.1:p.Gly1305AlafsTer3
NM_000548.4:c.4223del NP_000539.2:p.Gly1408AlafsTer3
NM_001077183.2:c.4022del NP_001070651.1:p.Gly1341AlafsTer3
NM_001114382.2:c.4154del NP_001107854.1:p.Gly1385AlafsTer3
NM_001318827.1:c.3914del NP_001305756.1:p.Gly1305AlafsTer3
NM_001318829.1:c.3878del NP_001305758.1:p.Gly1293AlafsTer3
NM_001318831.1:c.3491del NP_001305760.1:p.Gly1164AlafsTer3
NM_001318832.1:c.4055del NP_001305761.1:p.Gly1352AlafsTer3
NM_001363528.1:c.4025del NP_001350457.1:p.Gly1342AlafsTer3
NM_021055.2:c.4094del NP_066399.2:p.Gly1365AlafsTer3
XM_005255531.4:c.4025del XP_005255588.2:p.Gly1342AlafsTer3
XM_011522636.2:c.4277del XP_011520938.1:p.Gly1426AlafsTer3
XM_011522637.2:c.4274del XP_011520939.1:p.Gly1425AlafsTer3
XM_011522638.2:c.4439del XP_011520940.2:p.Gly1480AlafsTer3
XM_011522639.2:c.4148del XP_011520941.1:p.Gly1383AlafsTer3
XM_011522640.2:c.4145del XP_011520942.1:p.Gly1382AlafsTer3
XM_017023615.1:c.4220del XP_016879104.1:p.Gly1407AlafsTer3
XM_017023616.1:c.4091del XP_016879105.1:p.Gly1364AlafsTer3
XM_017023617.1:c.4187del XP_016879106.1:p.Gly1396AlafsTer3
XM_017023618.1:c.2933del XP_016879107.1:p.Gly978AlafsTer3
XM_024450413.1:c.4022del XP_024306181.1:p.Gly1341AlafsTer3
NM_000548.5:c.4223del MANE Select NP_000539.2:p.Gly1408AlafsTer3
NM_001370404.1:c.4091del NP_001357333.1:p.Gly1364AlafsTer3
NM_001370405.1:c.4094del NP_001357334.1:p.Gly1365AlafsTer3
NM_001077183.3:c.4022del NP_001070651.1:p.Gly1341AlafsTer3
NM_001114382.3:c.4154del NP_001107854.1:p.Gly1385AlafsTer3
NM_001318827.2:c.3914del NP_001305756.1:p.Gly1305AlafsTer3
NM_001318829.2:c.3878del NP_001305758.1:p.Gly1293AlafsTer3
NM_001318831.2:c.3491del NP_001305760.1:p.Gly1164AlafsTer3
NM_001318832.2:c.4055del NP_001305761.1:p.Gly1352AlafsTer3
NM_001363528.2:c.4025del NP_001350457.1:p.Gly1342AlafsTer3
NM_021055.3:c.4094del NP_066399.2:p.Gly1365AlafsTer3