Canonical Allele Identifier: CA017509
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49753
ClinVar RCV Id: RCV000043018
dbSNP Id: rs137854379

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2074335_2074336insAT , CM000678.2:g.2074335_2074336insAT GRCh38
NC_000016.9:g.2124336_2124337insAT , CM000678.1:g.2124336_2124337insAT GRCh37
NC_000016.8:g.2064337_2064338insAT NCBI36
NG_005895.1:g.30030_30031insAT , LRG_487:g.30030_30031insAT

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*1038_*1039insAT ENSP00000455997.2:n.*1038_*1039insAT
ENST00000642206.2:c.2536_2537insAT ENSP00000495146.2:p.Thr846AsnfsTer?
ENST00000642365.2:c.2491_2492insAT ENSP00000495459.2:p.Thr831AsnfsTer?
ENST00000644417.2:c.*1928_*1929insAT ENSP00000493912.2:n.*1928_*1929insAT
ENST00000646464.2:c.*2136_*2137insAT ENSP00000496610.2:n.*2136_*2137insAT
ENST00000219476.9:c.2491_2492insAT MANE Select ENSP00000219476.3:p.Thr831AsnfsTer?
ENST00000350773.9:c.2491_2492insAT ENSP00000344383.4:p.Thr831AsnfsTer?
ENST00000401874.7:c.2491_2492insAT ENSP00000384468.2:p.Thr831AsnfsTer?
ENST00000563346.2:n.669_670insAT
ENST00000568454.6:c.2524_2525insAT ENSP00000454487.1:p.Thr842AsnfsTer?
ENST00000642365.1:c.1148_1149insAT
ENST00000642561.1:c.2491_2492insAT ENSP00000495099.1:p.Thr831AsnfsTer?
ENST00000642797.1:c.2491_2492insAT ENSP00000493846.1:p.Thr831AsnfsTer?
ENST00000642936.1:c.2491_2492insAT ENSP00000494514.1:p.Thr831AsnfsTer?
ENST00000643088.1:c.2491_2492insAT ENSP00000494747.1:p.Thr831AsnfsTer?
ENST00000643298.1:c.*1993_*1994insAT ENSP00000494393.1:n.*1993_*1994insAT
ENST00000643946.1:c.2491_2492insAT ENSP00000495927.1:p.Thr831AsnfsTer?
ENST00000644043.1:c.2491_2492insAT ENSP00000496262.1:p.Thr831AsnfsTer?
ENST00000644329.1:c.2491_2492insAT ENSP00000496611.1:p.Thr831AsnfsTer?
ENST00000644335.1:c.2491_2492insAT ENSP00000496317.1:p.Thr831AsnfsTer?
ENST00000644399.1:c.2484_2485insAT
ENST00000644847.1:n.1483_1484insAT
ENST00000645024.1:n.773_774insAT
ENST00000645552.1:n.771_772insAT
ENST00000646388.1:c.2491_2492insAT ENSP00000495921.1:p.Thr831AsnfsTer?
ENST00000646634.1:n.1504_1505insAT
ENST00000219476.7:c.2491_2492insAT ENSP00000219476.3:p.Thr831AsnfsTer?
ENST00000350773.8:c.2491_2492insAT ENSP00000344383.4:p.Thr831AsnfsTer?
ENST00000382538.10:c.2344_2345insAT ENSP00000371978.6:p.Thr782AsnfsTer?
ENST00000401874.6:c.2491_2492insAT ENSP00000384468.2:p.Thr831AsnfsTer?
ENST00000439117.6:c.*1790_*1791insAT ENSP00000406980.2:n.*1790_*1791insAT
ENST00000439673.6:c.2380_2381insAT ENSP00000399232.2:p.Thr794AsnfsTer?
ENST00000463808.1:n.525_526insAT
ENST00000568454.5:c.2524_2525insAT ENSP00000454487.1:p.Thr842AsnfsTer?
NM_000548.3:c.2491_2492insAT , LRG_487t1:c.2491_2492insAT NP_000539.2:p.Thr831AsnfsTer?
NM_001077183.1:c.2491_2492insAT NP_001070651.1:p.Thr831AsnfsTer?
NM_001114382.1:c.2491_2492insAT NP_001107854.1:p.Thr831AsnfsTer?
XM_005255529.3:c.2491_2492insAT XP_005255586.2:p.Thr831AsnfsTer?
XM_005255531.3:c.2491_2492insAT XP_005255588.2:p.Thr831AsnfsTer?
XM_011522636.1:c.2491_2492insAT XP_011520938.1:p.Thr831AsnfsTer?
XM_011522637.1:c.2491_2492insAT XP_011520939.1:p.Thr831AsnfsTer?
XM_011522638.1:c.2380_2381insAT XP_011520940.1:p.Thr794AsnfsTer?
XM_011522639.1:c.2491_2492insAT XP_011520941.1:p.Thr831AsnfsTer?
XM_011522640.1:c.2491_2492insAT XP_011520942.1:p.Thr831AsnfsTer?
XM_011522641.1:c.2380_2381insAT XP_011520943.1:p.Thr794AsnfsTer?
NM_000548.4:c.2491_2492insAT NP_000539.2:p.Thr831AsnfsTer?
NM_001077183.2:c.2491_2492insAT NP_001070651.1:p.Thr831AsnfsTer?
NM_001114382.2:c.2491_2492insAT NP_001107854.1:p.Thr831AsnfsTer?
NM_001318827.1:c.2380_2381insAT NP_001305756.1:p.Thr794AsnfsTer?
NM_001318829.1:c.2344_2345insAT NP_001305758.1:p.Thr782AsnfsTer?
NM_001318831.1:c.1891_1892insAT NP_001305760.1:p.Thr631AsnfsTer?
NM_001318832.1:c.2524_2525insAT NP_001305761.1:p.Thr842AsnfsTer?
NM_001363528.1:c.2491_2492insAT NP_001350457.1:p.Thr831AsnfsTer?
NM_021055.2:c.2491_2492insAT NP_066399.2:p.Thr831AsnfsTer?
XM_005255531.4:c.2491_2492insAT XP_005255588.2:p.Thr831AsnfsTer?
XM_011522636.2:c.2491_2492insAT XP_011520938.1:p.Thr831AsnfsTer?
XM_011522637.2:c.2491_2492insAT XP_011520939.1:p.Thr831AsnfsTer?
XM_011522638.2:c.2653_2654insAT XP_011520940.2:p.Thr885AsnfsTer?
XM_011522639.2:c.2491_2492insAT XP_011520941.1:p.Thr831AsnfsTer?
XM_011522640.2:c.2491_2492insAT XP_011520942.1:p.Thr831AsnfsTer?
XM_017023615.1:c.2491_2492insAT XP_016879104.1:p.Thr831AsnfsTer?
XM_017023616.1:c.2491_2492insAT XP_016879105.1:p.Thr831AsnfsTer?
XM_017023617.1:c.2653_2654insAT XP_016879106.1:p.Thr885AsnfsTer?
XM_017023618.1:c.1147_1148insAT XP_016879107.1:p.Thr383AsnfsTer?
XM_024450413.1:c.2491_2492insAT XP_024306181.1:p.Thr831AsnfsTer?
NM_000548.5:c.2491_2492insAT MANE Select NP_000539.2:p.Thr831AsnfsTer?
NM_001370404.1:c.2491_2492insAT NP_001357333.1:p.Thr831AsnfsTer?
NM_001370405.1:c.2491_2492insAT NP_001357334.1:p.Thr831AsnfsTer?
NM_001077183.3:c.2491_2492insAT NP_001070651.1:p.Thr831AsnfsTer?
NM_001114382.3:c.2491_2492insAT NP_001107854.1:p.Thr831AsnfsTer?
NM_001318827.2:c.2380_2381insAT NP_001305756.1:p.Thr794AsnfsTer?
NM_001318829.2:c.2344_2345insAT NP_001305758.1:p.Thr782AsnfsTer?
NM_001318831.2:c.1891_1892insAT NP_001305760.1:p.Thr631AsnfsTer?
NM_001318832.2:c.2524_2525insAT NP_001305761.1:p.Thr842AsnfsTer?
NM_001363528.2:c.2491_2492insAT NP_001350457.1:p.Thr831AsnfsTer?
NM_021055.3:c.2491_2492insAT NP_066399.2:p.Thr831AsnfsTer?