Canonical Allele Identifier: CA019473
Gene: TSC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 50013
dbSNP Id: rs137853993

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
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:p.=
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 VV NP_001070651.1:p.Ser1188ThrfsTer?
NM_001114382.1:c.3693_3696del VV 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?