Canonical Allele Identifier: CA16043063
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373617
ClinVar RCV Id: RCV000413504
dbSNP Id: rs1057518508

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2054387del , CM000678.2:g.2054387del GRCh38
NC_000016.9:g.2104388del , CM000678.1:g.2104388del GRCh37
NC_000016.8:g.2044389del NCBI36
NG_005895.1:g.10082del , LRG_487:g.10082del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.428del ENSP00000455997.2:p.Phe143SerfsTer?
ENST00000642206.2:c.473del ENSP00000495146.2:p.Phe158SerfsTer?
ENST00000642365.2:c.428del ENSP00000495459.2:p.Phe143SerfsTer?
ENST00000644417.2:c.428del ENSP00000493912.2:p.Phe143SerfsTer?
ENST00000646464.2:c.226-1593del ENSP00000496610.2:n.226-1593del
ENST00000219476.9:c.428del MANE Select ENSP00000219476.3:p.Phe143SerfsTer?
ENST00000350773.9:c.428del ENSP00000344383.4:p.Phe143SerfsTer?
ENST00000401874.7:c.428del ENSP00000384468.2:p.Phe143SerfsTer?
ENST00000432909.3:c.202del
ENST00000461648.3:n.1381del
ENST00000568454.6:c.461del ENSP00000454487.1:p.Phe154SerfsTer?
ENST00000568692.2:n.1151del
ENST00000642561.1:c.428del ENSP00000495099.1:p.Phe143SerfsTer?
ENST00000642797.1:c.428del ENSP00000493846.1:p.Phe143SerfsTer?
ENST00000642812.1:n.485del
ENST00000642936.1:c.428del ENSP00000494514.1:p.Phe143SerfsTer?
ENST00000643088.1:c.428del ENSP00000494747.1:p.Phe143SerfsTer?
ENST00000643120.1:n.469del
ENST00000643149.1:n.1381del
ENST00000643298.1:c.428del ENSP00000494393.1:p.Phe143SerfsTer?
ENST00000643745.1:c.428del ENSP00000495948.1:p.Phe143SerfsTer?
ENST00000643946.1:c.428del ENSP00000495927.1:p.Phe143SerfsTer?
ENST00000644043.1:c.428del ENSP00000496262.1:p.Phe143SerfsTer?
ENST00000644135.1:c.428del ENSP00000495644.1:p.Phe143SerfsTer?
ENST00000644222.1:n.515del
ENST00000644329.1:c.428del ENSP00000496611.1:p.Phe143SerfsTer?
ENST00000644335.1:c.428del ENSP00000496317.1:p.Phe143SerfsTer?
ENST00000644399.1:c.421del
ENST00000644417.1:c.143del ENSP00000493912.1:p.Phe48SerfsTer?
ENST00000644665.1:n.545del
ENST00000645591.1:n.1399del
ENST00000646388.1:c.428del ENSP00000495921.1:p.Phe143SerfsTer?
ENST00000646823.1:n.816del
ENST00000647234.1:n.1146del
ENST00000647242.1:n.1096del
ENST00000219476.7:c.428del ENSP00000219476.3:p.Phe143SerfsTer?
ENST00000350773.8:c.428del ENSP00000344383.4:p.Phe143SerfsTer?
ENST00000382538.10:c.281del ENSP00000371978.6:p.Phe94SerfsTer?
ENST00000401874.6:c.428del ENSP00000384468.2:p.Phe143SerfsTer?
ENST00000432909.2:c.202del
ENST00000439117.6:c.226-1809del ENSP00000406980.2:n.226-1809del
ENST00000439673.6:c.317del ENSP00000399232.2:p.Phe106SerfsTer?
ENST00000568454.5:c.461del ENSP00000454487.1:p.Phe154SerfsTer?
ENST00000568692.1:n.92del
NM_000548.3:c.428del , LRG_487t1:c.428del NP_000539.2:p.Phe143SerfsTer?
NM_001077183.1:c.428del NP_001070651.1:p.Phe143SerfsTer?
NM_001114382.1:c.428del NP_001107854.1:p.Phe143SerfsTer?
XM_005255529.3:c.428del XP_005255586.2:p.Phe143SerfsTer?
XM_005255531.3:c.428del XP_005255588.2:p.Phe143SerfsTer?
XM_011522636.1:c.428del XP_011520938.1:p.Phe143SerfsTer?
XM_011522637.1:c.428del XP_011520939.1:p.Phe143SerfsTer?
XM_011522638.1:c.317del XP_011520940.1:p.Phe106SerfsTer?
XM_011522639.1:c.428del XP_011520941.1:p.Phe143SerfsTer?
XM_011522640.1:c.428del XP_011520942.1:p.Phe143SerfsTer?
XM_011522641.1:c.317del XP_011520943.1:p.Phe106SerfsTer?
NM_000548.4:c.428del NP_000539.2:p.Phe143SerfsTer?
NM_001077183.2:c.428del NP_001070651.1:p.Phe143SerfsTer?
NM_001114382.2:c.428del NP_001107854.1:p.Phe143SerfsTer?
NM_001318827.1:c.317del NP_001305756.1:p.Phe106SerfsTer?
NM_001318829.1:c.281del NP_001305758.1:p.Phe94SerfsTer?
NM_001318831.1:c.-1-1809del NP_001305760.1:n.-1-1809del
NM_001318832.1:c.461del NP_001305761.1:p.Phe154SerfsTer?
NM_001363528.1:c.428del NP_001350457.1:p.Phe143SerfsTer?
NM_021055.2:c.428del NP_066399.2:p.Phe143SerfsTer?
XM_005255531.4:c.428del XP_005255588.2:p.Phe143SerfsTer?
XM_011522636.2:c.428del XP_011520938.1:p.Phe143SerfsTer?
XM_011522637.2:c.428del XP_011520939.1:p.Phe143SerfsTer?
XM_011522638.2:c.590del XP_011520940.2:p.Phe197SerfsTer?
XM_011522639.2:c.428del XP_011520941.1:p.Phe143SerfsTer?
XM_011522640.2:c.428del XP_011520942.1:p.Phe143SerfsTer?
XM_017023615.1:c.428del XP_016879104.1:p.Phe143SerfsTer?
XM_017023616.1:c.428del XP_016879105.1:p.Phe143SerfsTer?
XM_017023617.1:c.590del XP_016879106.1:p.Phe197SerfsTer?
XM_017023618.1:c.-1004del XP_016879107.1:n.-1004del
XM_024450413.1:c.428del XP_024306181.1:p.Phe143SerfsTer?
NM_000548.5:c.428del MANE Select NP_000539.2:p.Phe143SerfsTer?
NM_001370404.1:c.428del NP_001357333.1:p.Phe143SerfsTer?
NM_001370405.1:c.428del NP_001357334.1:p.Phe143SerfsTer?
NM_001077183.3:c.428del NP_001070651.1:p.Phe143SerfsTer?
NM_001114382.3:c.428del NP_001107854.1:p.Phe143SerfsTer?
NM_001318827.2:c.317del NP_001305756.1:p.Phe106SerfsTer?
NM_001318829.2:c.281del NP_001305758.1:p.Phe94SerfsTer?
NM_001318831.2:c.-1-1809del NP_001305760.1:n.-1-1809del
NM_001318832.2:c.461del NP_001305761.1:p.Phe154SerfsTer?
NM_001363528.2:c.428del NP_001350457.1:p.Phe143SerfsTer?
NM_021055.3:c.428del NP_066399.2:p.Phe143SerfsTer?