Canonical Allele Identifier: CA014408
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49151
dbSNP Id: rs137854360

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2048748_2048751del , CM000678.2:g.2048748_2048751del GRCh38
NC_000016.9:g.2098749_2098752del , CM000678.1:g.2098749_2098752del GRCh37
NC_000016.8:g.2038750_2038753del NCBI36
NG_005895.1:g.4443_4446del , LRG_487:g.4443_4446del
NG_008412.1:g.4117_4120del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.133_136del ENSP00000455997.2:p.Leu45GlufsTer3
ENST00000642206.2:c.133_136del ENSP00000495146.2:p.Leu45GlufsTer3
ENST00000642365.2:c.133_136del ENSP00000495459.2:p.Leu45GlufsTer3
ENST00000644417.2:c.133_136del ENSP00000493912.2:p.Leu45GlufsTer3
ENST00000646464.2:c.133_136del ENSP00000496610.2:p.Leu45GlufsTer3
ENST00000219476.9:c.133_136del MANE Select ENSP00000219476.3:p.Leu45GlufsTer3
ENST00000350773.9:c.133_136del ENSP00000344383.4:p.Leu45GlufsTer3
ENST00000401874.7:c.133_136del ENSP00000384468.2:p.Leu45GlufsTer3
ENST00000461648.3:n.243_246del
ENST00000568454.6:c.166_169del ENSP00000454487.1:p.Leu56GlufsTer3
ENST00000568692.2:n.13_16del
ENST00000642206.1:c.133_136del ENSP00000495146.1:p.Leu45GlufsTer3
ENST00000642561.1:c.133_136del ENSP00000495099.1:p.Leu45GlufsTer3
ENST00000642797.1:c.133_136del ENSP00000493846.1:p.Leu45GlufsTer3
ENST00000642812.1:n.190_193del
ENST00000642936.1:c.133_136del ENSP00000494514.1:p.Leu45GlufsTer3
ENST00000643088.1:c.133_136del ENSP00000494747.1:p.Leu45GlufsTer3
ENST00000643149.1:n.243_246del
ENST00000643298.1:c.133_136del ENSP00000494393.1:p.Leu45GlufsTer3
ENST00000643745.1:c.133_136del ENSP00000495948.1:p.Leu45GlufsTer3
ENST00000643946.1:c.133_136del ENSP00000495927.1:p.Leu45GlufsTer3
ENST00000644043.1:c.133_136del ENSP00000496262.1:p.Leu45GlufsTer3
ENST00000644135.1:c.133_136del ENSP00000495644.1:p.Leu45GlufsTer3
ENST00000644222.1:n.220_223del
ENST00000644329.1:c.133_136del ENSP00000496611.1:p.Leu45GlufsTer3
ENST00000644335.1:c.133_136del ENSP00000496317.1:p.Leu45GlufsTer3
ENST00000644399.1:c.126_129del
ENST00000644665.1:n.250_253del
ENST00000645591.1:n.261_264del
ENST00000646388.1:c.133_136del ENSP00000495921.1:p.Leu45GlufsTer3
ENST00000647234.1:n.8_11del
ENST00000219476.7:c.133_136del ENSP00000219476.3:p.Leu45GlufsTer3
ENST00000350773.8:c.133_136del ENSP00000344383.4:p.Leu45GlufsTer3
ENST00000382538.10:c.-10+683_-10+686del ENSP00000371978.6:n.-10+683_-10+686del
ENST00000401874.6:c.133_136del ENSP00000384468.2:p.Leu45GlufsTer3
ENST00000439117.6:c.133_136del ENSP00000406980.2:p.Leu45GlufsTer3
ENST00000439673.6:c.133_136del ENSP00000399232.2:p.Leu45GlufsTer3
ENST00000461648.2:n.238_241del
ENST00000568454.5:c.166_169del ENSP00000454487.1:p.Leu56GlufsTer3
NM_000548.3:c.133_136del , LRG_487t1:c.133_136del NP_000539.2:p.Leu45GlufsTer3
NM_001077183.1:c.133_136del NP_001070651.1:p.Leu45GlufsTer3
NM_001114382.1:c.133_136del NP_001107854.1:p.Leu45GlufsTer3
XM_005255529.3:c.133_136del XP_005255586.2:p.Leu45GlufsTer3
XM_005255531.3:c.133_136del XP_005255588.2:p.Leu45GlufsTer3
XM_011522636.1:c.133_136del XP_011520938.1:p.Leu45GlufsTer3
XM_011522637.1:c.133_136del XP_011520939.1:p.Leu45GlufsTer3
XM_011522638.1:c.133_136del XP_011520940.1:p.Leu45GlufsTer3
XM_011522639.1:c.133_136del XP_011520941.1:p.Leu45GlufsTer3
XM_011522640.1:c.133_136del XP_011520942.1:p.Leu45GlufsTer3
XM_011522641.1:c.133_136del XP_011520943.1:p.Leu45GlufsTer3
NM_000548.4:c.133_136del NP_000539.2:p.Leu45GlufsTer3
NM_001077183.2:c.133_136del NP_001070651.1:p.Leu45GlufsTer3
NM_001114382.2:c.133_136del NP_001107854.1:p.Leu45GlufsTer3
NM_001318827.1:c.133_136del NP_001305756.1:p.Leu45GlufsTer3
NM_001318829.1:c.-10+683_-10+686del NP_001305758.1:n.-10+683_-10+686del
NM_001318831.1:c.-94_-91del NP_001305760.1:n.-94_-91del
NM_001318832.1:c.166_169del NP_001305761.1:p.Leu56GlufsTer3
NM_001363528.1:c.133_136del NP_001350457.1:p.Leu45GlufsTer3
NM_021055.2:c.133_136del NP_066399.2:p.Leu45GlufsTer3
XM_005255531.4:c.133_136del XP_005255588.2:p.Leu45GlufsTer3
XM_011522636.2:c.133_136del XP_011520938.1:p.Leu45GlufsTer3
XM_011522637.2:c.133_136del XP_011520939.1:p.Leu45GlufsTer3
XM_011522638.2:c.406_409del XP_011520940.2:p.Leu136GlufsTer3
XM_011522639.2:c.133_136del XP_011520941.1:p.Leu45GlufsTer3
XM_011522640.2:c.133_136del XP_011520942.1:p.Leu45GlufsTer3
XM_017023615.1:c.133_136del XP_016879104.1:p.Leu45GlufsTer3
XM_017023616.1:c.133_136del XP_016879105.1:p.Leu45GlufsTer3
XM_017023617.1:c.406_409del XP_016879106.1:p.Leu136GlufsTer3
XM_017023618.1:c.-1299_-1296del XP_016879107.1:n.-1299_-1296del
XM_024450413.1:c.133_136del XP_024306181.1:p.Leu45GlufsTer3
NM_000548.5:c.133_136del MANE Select NP_000539.2:p.Leu45GlufsTer3
NM_001370404.1:c.133_136del NP_001357333.1:p.Leu45GlufsTer3
NM_001370405.1:c.133_136del NP_001357334.1:p.Leu45GlufsTer3
NM_001077183.3:c.133_136del NP_001070651.1:p.Leu45GlufsTer3
NM_001114382.3:c.133_136del NP_001107854.1:p.Leu45GlufsTer3
NM_001318827.2:c.133_136del NP_001305756.1:p.Leu45GlufsTer3
NM_001318829.2:c.-10+683_-10+686del NP_001305758.1:n.-10+683_-10+686del
NM_001318831.2:c.-94_-91del NP_001305760.1:n.-94_-91del
NM_001318832.2:c.166_169del NP_001305761.1:p.Leu56GlufsTer3
NM_001363528.2:c.133_136del NP_001350457.1:p.Leu45GlufsTer3
NM_021055.3:c.133_136del NP_066399.2:p.Leu45GlufsTer3