Canonical Allele Identifier: CA019473
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50013
ClinVar RCV Id: RCV000043281 RCV000489018 RCV001194684 RCV002496682
dbSNP Id: rs137853993
gnomAD v4: 16-2081674-GCTGT-G
MyVariant Identifiers: chr16:g.2131678_2131681del (hg19) chr16:g.2081677_2081680del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2081677_2081680del , CM000678.2:g.2081677_2081680del GRCh38
NC_000016.9:g.2131678_2131681del , CM000678.1:g.2131678_2131681del GRCh37
NC_000016.8:g.2071679_2071682del NCBI36
NG_005895.1:g.37372_37375del , LRG_487:g.37372_37375del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2111_*2114del ENSP00000455997.2:n.*2111_*2114del
ENST00000642206.2:c.3609_3612del ENSP00000495146.2:p.Ser1204ThrfsTer?
ENST00000642365.2:c.3690_3693del ENSP00000495459.2:p.Ser1231ThrfsTer?
ENST00000644417.2:c.*4142_*4145del ENSP00000493912.2:n.*4142_*4145del
ENST00000646464.2:c.*4615_*4618del ENSP00000496610.2:n.*4615_*4618del
ENST00000219476.9:c.3693_3696del MANE Select ENSP00000219476.3:p.Ser1232ThrfsTer?
ENST00000350773.9:c.3693_3696del ENSP00000344383.4:p.Ser1232ThrfsTer?
ENST00000401874.7:c.3561_3564del ENSP00000384468.2:p.Ser1188ThrfsTer?
ENST00000568454.6:c.3594_3597del ENSP00000454487.1:p.Ser1199ThrfsTer?
ENST00000642365.1:c.2347_2350del
ENST00000642561.1:c.3564_3567del ENSP00000495099.1:p.Ser1189ThrfsTer?
ENST00000642797.1:c.3564_3567del ENSP00000493846.1:p.Ser1189ThrfsTer?
ENST00000642936.1:c.3561_3564del ENSP00000494514.1:p.Ser1188ThrfsTer?
ENST00000643088.1:c.3561_3564del ENSP00000494747.1:p.Ser1188ThrfsTer?
ENST00000643426.1:n.1341_1344del
ENST00000643533.1:n.203_206del
ENST00000643946.1:c.3693_3696del ENSP00000495927.1:p.Ser1232ThrfsTer?
ENST00000644043.1:c.3564_3567del ENSP00000496262.1:p.Ser1189ThrfsTer?
ENST00000644329.1:c.3561_3564del ENSP00000496611.1:p.Ser1188ThrfsTer?
ENST00000644335.1:c.3564_3567del ENSP00000496317.1:p.Ser1189ThrfsTer?
ENST00000644399.1:c.3683_3686del
ENST00000644722.1:n.839_842del
ENST00000645024.1:n.1846_1849del
ENST00000646388.1:c.3693_3696del ENSP00000495921.1:p.Ser1232ThrfsTer?
ENST00000646634.1:n.2577_2580del
ENST00000646674.1:n.308_311del
ENST00000647042.1:n.985_988del
ENST00000647180.1:n.173_176del
ENST00000219476.7:c.3693_3696del ENSP00000219476.3:p.Ser1232ThrfsTer?
ENST00000350773.8:c.3693_3696del ENSP00000344383.4:p.Ser1232ThrfsTer?
ENST00000382538.10:c.3417_3420del ENSP00000371978.6:p.Ser1140ThrfsTer?
ENST00000401874.6:c.3561_3564del ENSP00000384468.2:p.Ser1188ThrfsTer?
ENST00000439117.6:c.*2860_*2863del ENSP00000406980.2:n.*2860_*2863del
ENST00000439673.6:c.3453_3456del ENSP00000399232.2:p.Ser1152ThrfsTer?
ENST00000497886.5:n.1520_1523del
ENST00000568454.5:c.3594_3597del ENSP00000454487.1:p.Ser1199ThrfsTer?
NM_000548.3:c.3693_3696del , LRG_487t1:c.3693_3696del NP_000539.2:p.Ser1232ThrfsTer?
NM_001077183.1:c.3561_3564del NP_001070651.1:p.Ser1188ThrfsTer?
NM_001114382.1:c.3693_3696del NP_001107854.1:p.Ser1232ThrfsTer?
XM_005255529.3:c.3564_3567del XP_005255586.2:p.Ser1189ThrfsTer?
XM_005255531.3:c.3564_3567del XP_005255588.2:p.Ser1189ThrfsTer?
XM_011522636.1:c.3693_3696del XP_011520938.1:p.Ser1232ThrfsTer?
XM_011522637.1:c.3690_3693del XP_011520939.1:p.Ser1231ThrfsTer?
XM_011522638.1:c.3582_3585del XP_011520940.1:p.Ser1195ThrfsTer?
XM_011522639.1:c.3564_3567del XP_011520941.1:p.Ser1189ThrfsTer?
XM_011522640.1:c.3561_3564del XP_011520942.1:p.Ser1188ThrfsTer?
XM_011522641.1:c.3453_3456del XP_011520943.1:p.Ser1152ThrfsTer?
NM_000548.4:c.3693_3696del NP_000539.2:p.Ser1232ThrfsTer?
NM_001077183.2:c.3561_3564del NP_001070651.1:p.Ser1188ThrfsTer?
NM_001114382.2:c.3693_3696del NP_001107854.1:p.Ser1232ThrfsTer?
NM_001318827.1:c.3453_3456del NP_001305756.1:p.Ser1152ThrfsTer?
NM_001318829.1:c.3417_3420del NP_001305758.1:p.Ser1140ThrfsTer?
NM_001318831.1:c.2961_2964del NP_001305760.1:p.Ser988ThrfsTer?
NM_001318832.1:c.3594_3597del NP_001305761.1:p.Ser1199ThrfsTer?
NM_001363528.1:c.3564_3567del NP_001350457.1:p.Ser1189ThrfsTer?
NM_021055.2:c.3564_3567del NP_066399.2:p.Ser1189ThrfsTer?
XM_005255531.4:c.3564_3567del XP_005255588.2:p.Ser1189ThrfsTer?
XM_011522636.2:c.3693_3696del XP_011520938.1:p.Ser1232ThrfsTer?
XM_011522637.2:c.3690_3693del XP_011520939.1:p.Ser1231ThrfsTer?
XM_011522638.2:c.3855_3858del XP_011520940.2:p.Ser1286ThrfsTer?
XM_011522639.2:c.3564_3567del XP_011520941.1:p.Ser1189ThrfsTer?
XM_011522640.2:c.3561_3564del XP_011520942.1:p.Ser1188ThrfsTer?
XM_017023615.1:c.3690_3693del XP_016879104.1:p.Ser1231ThrfsTer?
XM_017023616.1:c.3561_3564del XP_016879105.1:p.Ser1188ThrfsTer?
XM_017023617.1:c.3726_3729del XP_016879106.1:p.Ser1243ThrfsTer?
XM_017023618.1:c.2349_2352del XP_016879107.1:p.Ser784ThrfsTer?
XM_024450413.1:c.3561_3564del XP_024306181.1:p.Ser1188ThrfsTer?
NM_000548.5:c.3693_3696del MANE Select NP_000539.2:p.Ser1232ThrfsTer?
NM_001370404.1:c.3561_3564del NP_001357333.1:p.Ser1188ThrfsTer?
NM_001370405.1:c.3564_3567del NP_001357334.1:p.Ser1189ThrfsTer?
NM_001077183.3:c.3561_3564del NP_001070651.1:p.Ser1188ThrfsTer?
NM_001114382.3:c.3693_3696del NP_001107854.1:p.Ser1232ThrfsTer?
NM_001318827.2:c.3453_3456del NP_001305756.1:p.Ser1152ThrfsTer?
NM_001318829.2:c.3417_3420del NP_001305758.1:p.Ser1140ThrfsTer?
NM_001318831.2:c.2961_2964del NP_001305760.1:p.Ser988ThrfsTer?
NM_001318832.2:c.3594_3597del NP_001305761.1:p.Ser1199ThrfsTer?
NM_001363528.2:c.3564_3567del NP_001350457.1:p.Ser1189ThrfsTer?
NM_021055.3:c.3564_3567del NP_066399.2:p.Ser1189ThrfsTer?
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