Canonical Allele Identifier: CA015064
Gene: TSC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 50133
dbSNP Id: rs137854023

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2064391dup , CM000678.2:g.2064391dup GRCh38
NC_000016.9:g.2114392dup , CM000678.1:g.2114392dup GRCh37
NC_000016.8:g.2054393dup NCBI36
NG_005895.1:g.20086dup , LRG_487:g.20086dup

Transcript Alleles

HGVS Amino-acid change
NM_000548.3:c.1563dup , LRG_487t1:c.1563dup NP_000539.2:p.His522ThrfsTer?
NM_001077183.1:c.1563dup VV NP_001070651.1:p.His522ThrfsTer?
NM_001114382.1:c.1563dup VV NP_001107854.1:p.His522ThrfsTer?
XM_005255529.3:c.1563dup XP_005255586.2:p.His522ThrfsTer?
XM_005255531.3:c.1563dup XP_005255588.2:p.His522ThrfsTer?
XM_011522636.1:c.1563dup XP_011520938.1:p.His522ThrfsTer?
XM_011522637.1:c.1563dup XP_011520939.1:p.His522ThrfsTer?
XM_011522638.1:c.1452dup XP_011520940.1:p.His485ThrfsTer?
XM_011522639.1:c.1563dup XP_011520941.1:p.His522ThrfsTer?
XM_011522640.1:c.1563dup XP_011520942.1:p.His522ThrfsTer?
XM_011522641.1:c.1452dup XP_011520943.1:p.His485ThrfsTer?
NM_000548.4:c.1563dup VV NP_000539.2:p.His522ThrfsTer?
NM_001077183.2:c.1563dup VV NP_001070651.1:p.His522ThrfsTer?
NM_001114382.2:c.1563dup VV NP_001107854.1:p.His522ThrfsTer?
NM_001318827.1:c.1452dup VV NP_001305756.1:p.His485ThrfsTer?
NM_001318829.1:c.1416dup VV NP_001305758.1:p.His473ThrfsTer?
NM_001318831.1:c.963dup VV NP_001305760.1:p.His322ThrfsTer?
NM_001318832.1:c.1596dup VV NP_001305761.1:p.His533ThrfsTer?
NM_001363528.1:c.1563dup VV NP_001350457.1:p.His522ThrfsTer?
NM_021055.2:c.1563dup VV NP_066399.2:p.His522ThrfsTer?
XM_005255531.4:c.1563dup XP_005255588.2:p.His522ThrfsTer?
XM_011522636.2:c.1563dup XP_011520938.1:p.His522ThrfsTer?
XM_011522637.2:c.1563dup XP_011520939.1:p.His522ThrfsTer?
XM_011522638.2:c.1725dup XP_011520940.2:p.His576ThrfsTer?
XM_011522639.2:c.1563dup XP_011520941.1:p.His522ThrfsTer?
XM_011522640.2:c.1563dup XP_011520942.1:p.His522ThrfsTer?
XM_017023615.1:c.1563dup XP_016879104.1:p.His522ThrfsTer?
XM_017023616.1:c.1563dup XP_016879105.1:p.His522ThrfsTer?
XM_017023617.1:c.1725dup XP_016879106.1:p.His576ThrfsTer?
XM_017023618.1:c.219dup XP_016879107.1:p.His74ThrfsTer?
XM_024450413.1:c.1563dup XP_024306181.1:p.His522ThrfsTer?
NM_000548.5:c.1563dup VV MANE Preferred NP_000539.2:p.His522ThrfsTer?
ENST00000219476.7:c.1563dup ENSP00000219476.3:p.His522ThrfsTer?
ENST00000350773.8:c.1563dup ENSP00000344383.4:p.His522ThrfsTer?
ENST00000382538.10:c.1416dup ENSP00000371978.6:p.His473ThrfsTer?
ENST00000401874.6:c.1563dup ENSP00000384468.2:p.His522ThrfsTer?
ENST00000439117.6:c.*862dup ENSP00000406980.2:p.=
ENST00000439673.6:c.1452dup ENSP00000399232.2:p.His485ThrfsTer?
ENST00000490108.1:n.336dup
ENST00000568238.1:n.321dup
ENST00000568454.5:c.1596dup ENSP00000454487.1:p.His533ThrfsTer?
ENST00000568566.5:n.203dup ENSP00000455997.1:p.=