Canonical Allele Identifier: CA019548
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49568
dbSNP Id: rs137854001

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2081775del , CM000678.2:g.2081775del GRCh38
NC_000016.9:g.2131776del , CM000678.1:g.2131776del GRCh37
NC_000016.8:g.2071777del NCBI36
NG_005895.1:g.37470del , LRG_487:g.37470del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2209del ENSP00000455997.2:n.*2209del
ENST00000642206.2:c.3707del ENSP00000495146.2:p.Pro1236LeufsTer?
ENST00000642365.2:c.3788del ENSP00000495459.2:p.Pro1263LeufsTer?
ENST00000644417.2:c.*4240del ENSP00000493912.2:n.*4240del
ENST00000646464.2:c.*4713del ENSP00000496610.2:n.*4713del
ENST00000219476.9:c.3791del MANE Select ENSP00000219476.3:p.Pro1264LeufsTer?
ENST00000350773.9:c.3791del ENSP00000344383.4:p.Pro1264LeufsTer?
ENST00000401874.7:c.3659del ENSP00000384468.2:p.Pro1220LeufsTer?
ENST00000568454.6:c.3692del ENSP00000454487.1:p.Pro1231LeufsTer?
ENST00000642365.1:c.2445del
ENST00000642561.1:c.3662del ENSP00000495099.1:p.Pro1221LeufsTer?
ENST00000642797.1:c.3662del ENSP00000493846.1:p.Pro1221LeufsTer?
ENST00000642936.1:c.3659del ENSP00000494514.1:p.Pro1220LeufsTer?
ENST00000643088.1:c.3659del ENSP00000494747.1:p.Pro1220LeufsTer?
ENST00000643426.1:n.1439del
ENST00000643533.1:n.301del
ENST00000643946.1:c.3791del ENSP00000495927.1:p.Pro1264LeufsTer?
ENST00000644043.1:c.3662del ENSP00000496262.1:p.Pro1221LeufsTer?
ENST00000644329.1:c.3659del ENSP00000496611.1:p.Pro1220LeufsTer?
ENST00000644335.1:c.3662del ENSP00000496317.1:p.Pro1221LeufsTer?
ENST00000644399.1:c.3781del
ENST00000644722.1:n.937del
ENST00000645024.1:n.1944del
ENST00000646388.1:c.3791del ENSP00000495921.1:p.Pro1264LeufsTer?
ENST00000646634.1:n.2675del
ENST00000646674.1:n.406del
ENST00000647042.1:n.1083del
ENST00000647180.1:n.271del
ENST00000219476.7:c.3791del ENSP00000219476.3:p.Pro1264LeufsTer?
ENST00000350773.8:c.3791del ENSP00000344383.4:p.Pro1264LeufsTer?
ENST00000382538.10:c.3515del ENSP00000371978.6:p.Pro1172LeufsTer?
ENST00000401874.6:c.3659del ENSP00000384468.2:p.Pro1220LeufsTer?
ENST00000439117.6:c.*2958del ENSP00000406980.2:n.*2958del
ENST00000439673.6:c.3551del ENSP00000399232.2:p.Pro1184LeufsTer?
ENST00000497886.5:n.1618del
ENST00000568454.5:c.3692del ENSP00000454487.1:p.Pro1231LeufsTer?
NM_000548.3:c.3791del , LRG_487t1:c.3791del NP_000539.2:p.Pro1264LeufsTer?
NM_001077183.1:c.3659del NP_001070651.1:p.Pro1220LeufsTer?
NM_001114382.1:c.3791del NP_001107854.1:p.Pro1264LeufsTer?
XM_005255529.3:c.3662del XP_005255586.2:p.Pro1221LeufsTer?
XM_005255531.3:c.3662del XP_005255588.2:p.Pro1221LeufsTer?
XM_011522636.1:c.3791del XP_011520938.1:p.Pro1264LeufsTer?
XM_011522637.1:c.3788del XP_011520939.1:p.Pro1263LeufsTer?
XM_011522638.1:c.3680del XP_011520940.1:p.Pro1227LeufsTer?
XM_011522639.1:c.3662del XP_011520941.1:p.Pro1221LeufsTer?
XM_011522640.1:c.3659del XP_011520942.1:p.Pro1220LeufsTer?
XM_011522641.1:c.3551del XP_011520943.1:p.Pro1184LeufsTer?
NM_000548.4:c.3791del NP_000539.2:p.Pro1264LeufsTer?
NM_001077183.2:c.3659del NP_001070651.1:p.Pro1220LeufsTer?
NM_001114382.2:c.3791del NP_001107854.1:p.Pro1264LeufsTer?
NM_001318827.1:c.3551del NP_001305756.1:p.Pro1184LeufsTer?
NM_001318829.1:c.3515del NP_001305758.1:p.Pro1172LeufsTer?
NM_001318831.1:c.3059del NP_001305760.1:p.Pro1020LeufsTer?
NM_001318832.1:c.3692del NP_001305761.1:p.Pro1231LeufsTer?
NM_001363528.1:c.3662del NP_001350457.1:p.Pro1221LeufsTer?
NM_021055.2:c.3662del NP_066399.2:p.Pro1221LeufsTer?
XM_005255531.4:c.3662del XP_005255588.2:p.Pro1221LeufsTer?
XM_011522636.2:c.3791del XP_011520938.1:p.Pro1264LeufsTer?
XM_011522637.2:c.3788del XP_011520939.1:p.Pro1263LeufsTer?
XM_011522638.2:c.3953del XP_011520940.2:p.Pro1318LeufsTer?
XM_011522639.2:c.3662del XP_011520941.1:p.Pro1221LeufsTer?
XM_011522640.2:c.3659del XP_011520942.1:p.Pro1220LeufsTer?
XM_017023615.1:c.3788del XP_016879104.1:p.Pro1263LeufsTer?
XM_017023616.1:c.3659del XP_016879105.1:p.Pro1220LeufsTer?
XM_017023617.1:c.3824del XP_016879106.1:p.Pro1275LeufsTer?
XM_017023618.1:c.2447del XP_016879107.1:p.Pro816LeufsTer?
XM_024450413.1:c.3659del XP_024306181.1:p.Pro1220LeufsTer?
NM_000548.5:c.3791del MANE Select NP_000539.2:p.Pro1264LeufsTer?
NM_001370404.1:c.3659del NP_001357333.1:p.Pro1220LeufsTer?
NM_001370405.1:c.3662del NP_001357334.1:p.Pro1221LeufsTer?
NM_001077183.3:c.3659del NP_001070651.1:p.Pro1220LeufsTer?
NM_001114382.3:c.3791del NP_001107854.1:p.Pro1264LeufsTer?
NM_001318827.2:c.3551del NP_001305756.1:p.Pro1184LeufsTer?
NM_001318829.2:c.3515del NP_001305758.1:p.Pro1172LeufsTer?
NM_001318831.2:c.3059del NP_001305760.1:p.Pro1020LeufsTer?
NM_001318832.2:c.3692del NP_001305761.1:p.Pro1231LeufsTer?
NM_001363528.2:c.3662del NP_001350457.1:p.Pro1221LeufsTer?
NM_021055.3:c.3662del NP_066399.2:p.Pro1221LeufsTer?