Canonical Allele Identifier: CA2697549497
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2704288
ClinVar RCV Id: RCV003512889

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2074279_2074542delinsTC , CM000678.2:g.2074279_2074542delinsTC GRCh38
NC_000016.9:g.2124280_2124543delinsTC , CM000678.1:g.2124280_2124543delinsTC GRCh37
NC_000016.8:g.2064281_2064544delinsTC NCBI36
NG_005895.1:g.29974_30237delinsTC , LRG_487:g.29974_30237delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*982_*1092+153delinsTC
ENST00000642206.2:c.2480_2590+153delinsTC
ENST00000642365.2:c.2435_2545+153delinsTC
ENST00000644417.2:c.*1872_*1982+153delinsTC
ENST00000646464.2:c.*2080_*2343delinsTC ENSP00000496610.2:n.*2080_*2343delinsTC
ENST00000219476.9:c.2435_2545+153delinsTC
ENST00000350773.9:c.2435_2545+153delinsTC
ENST00000401874.7:c.2435_2545+153delinsTC
ENST00000568454.6:c.2468_2578+153delinsTC
ENST00000642365.1:c.1092_1202+153delinsTC
ENST00000642561.1:c.2435_2545+153delinsTC
ENST00000642797.1:c.2435_2545+153delinsTC
ENST00000642936.1:c.2435_2545+153delinsTC
ENST00000643088.1:c.2435_2545+153delinsTC
ENST00000643298.1:c.*1937_*2047+153delinsTC
ENST00000643946.1:c.2435_2545+153delinsTC
ENST00000644043.1:c.2435_2545+153delinsTC
ENST00000644329.1:c.2435_2545+153delinsTC
ENST00000644335.1:c.2435_2545+153delinsTC
ENST00000644399.1:c.2428_2538+153delinsTC
ENST00000644847.1:n.1427_1537+153delinsTC
ENST00000645024.1:n.717_827+153delinsTC
ENST00000645552.1:n.715_978delinsTC
ENST00000646388.1:c.2435_2545+153delinsTC
ENST00000646634.1:n.1448_1558+153delinsTC
ENST00000219476.7:c.2435_2545+153delinsTC
ENST00000350773.8:c.2435_2545+153delinsTC
ENST00000382538.10:c.2288_2398+153delinsTC
ENST00000401874.6:c.2435_2545+153delinsTC
ENST00000439117.6:c.*1734_*1844+153delinsTC
ENST00000439673.6:c.2324_2434+153delinsTC
ENST00000463808.1:n.469_732delinsTC
ENST00000568454.5:c.2468_2578+153delinsTC
NM_000548.3:c.2435_2545+153delinsTC , LRG_487t1:c.2435_2545+153delinsTC
NM_001077183.1:c.2435_2545+153delinsTC
NM_001114382.1:c.2435_2545+153delinsTC
XM_005255529.3:c.2435_2545+153delinsTC
XM_005255531.3:c.2435_2545+153delinsTC
XM_011522636.1:c.2435_2545+153delinsTC
XM_011522637.1:c.2435_2545+153delinsTC
XM_011522638.1:c.2324_2434+153delinsTC
XM_011522639.1:c.2435_2545+153delinsTC
XM_011522640.1:c.2435_2545+153delinsTC
XM_011522641.1:c.2324_2434+153delinsTC
NM_000548.4:c.2435_2545+153delinsTC
NM_001077183.2:c.2435_2545+153delinsTC
NM_001114382.2:c.2435_2545+153delinsTC
NM_001318827.1:c.2324_2434+153delinsTC
NM_001318829.1:c.2288_2398+153delinsTC
NM_001318831.1:c.1835_1945+153delinsTC
NM_001318832.1:c.2468_2578+153delinsTC
NM_001363528.1:c.2435_2545+153delinsTC
NM_021055.2:c.2435_2545+153delinsTC
XM_005255531.4:c.2435_2545+153delinsTC
XM_011522636.2:c.2435_2545+153delinsTC
XM_011522637.2:c.2435_2545+153delinsTC
XM_011522638.2:c.2597_2707+153delinsTC
XM_011522639.2:c.2435_2545+153delinsTC
XM_011522640.2:c.2435_2545+153delinsTC
XM_017023615.1:c.2435_2545+153delinsTC
XM_017023616.1:c.2435_2545+153delinsTC
XM_017023617.1:c.2597_2707+153delinsTC
XM_017023618.1:c.1091_1201+153delinsTC
XM_024450413.1:c.2435_2545+153delinsTC
NM_000548.5:c.2435_2545+153delinsTC
NM_001370404.1:c.2435_2545+153delinsTC
NM_001370405.1:c.2435_2545+153delinsTC
NM_001077183.3:c.2435_2545+153delinsTC
NM_001114382.3:c.2435_2545+153delinsTC
NM_001318827.2:c.2324_2434+153delinsTC
NM_001318829.2:c.2288_2398+153delinsTC
NM_001318831.2:c.1835_1945+153delinsTC
NM_001318832.2:c.2468_2578+153delinsTC
NM_001363528.2:c.2435_2545+153delinsTC
NM_021055.3:c.2435_2545+153delinsTC