Canonical Allele Identifier: CA2695221930
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2064248_2064289del , CM000678.2:g.2064248_2064289del GRCh38
NC_000016.9:g.2114249_2114290del , CM000678.1:g.2114249_2114290del GRCh37
NC_000016.8:g.2054250_2054291del NCBI36
NG_005895.1:g.19943_19984del , LRG_487:g.19943_19984del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.1362-24_*8del
ENST00000642206.2:c.1489-24_1506del
ENST00000642365.2:c.1444-24_1461del
ENST00000644417.2:c.*881-24_*898del
ENST00000646464.2:c.*1049-24_*1066del
ENST00000219476.9:c.1444-24_1461del
ENST00000350773.9:c.1444-24_1461del
ENST00000401874.7:c.1444-24_1461del
ENST00000463601.2:n.1548_1589del
ENST00000568454.6:c.1477-24_1494del
ENST00000642365.1:c.101-24_118del
ENST00000642561.1:c.1444-24_1461del
ENST00000642797.1:c.1444-24_1461del
ENST00000642812.1:n.1489-24_1506del
ENST00000642936.1:c.1444-24_1461del
ENST00000643088.1:c.1444-24_1461del
ENST00000643149.1:n.3454-24_3471del
ENST00000643298.1:c.*946-24_*963del
ENST00000643745.1:c.*376-24_*393del
ENST00000643946.1:c.1444-24_1461del
ENST00000644043.1:c.1444-24_1461del
ENST00000644135.1:c.1444-24_1461del
ENST00000644222.1:n.1531-24_1548del
ENST00000644329.1:c.1444-24_1461del
ENST00000644335.1:c.1444-24_1461del
ENST00000644399.1:c.1437-24_1454del
ENST00000644665.1:n.2618-24_2635del
ENST00000644847.1:n.436-24_453del
ENST00000645591.1:n.2502-24_2519del
ENST00000646388.1:c.1444-24_1461del
ENST00000646634.1:n.457-24_474del
ENST00000647234.1:n.3202-24_3219del
ENST00000647242.1:n.2080-24_2097del
ENST00000219476.7:c.1444-24_1461del
ENST00000350773.8:c.1444-24_1461del
ENST00000382538.10:c.1297-24_1314del
ENST00000401874.6:c.1444-24_1461del
ENST00000439117.6:c.*743-24_*760del
ENST00000439673.6:c.1333-24_1350del
ENST00000490108.1:n.217-24_234del
ENST00000568238.1:n.178_219del
ENST00000568454.5:c.1477-24_1494del
ENST00000568566.5:c.84-24_101del
NM_000548.3:c.1444-24_1461del , LRG_487t1:c.1444-24_1461del
NM_001077183.1:c.1444-24_1461del
NM_001114382.1:c.1444-24_1461del
XM_005255529.3:c.1444-24_1461del
XM_005255531.3:c.1444-24_1461del
XM_011522636.1:c.1444-24_1461del
XM_011522637.1:c.1444-24_1461del
XM_011522638.1:c.1333-24_1350del
XM_011522639.1:c.1444-24_1461del
XM_011522640.1:c.1444-24_1461del
XM_011522641.1:c.1333-24_1350del
NM_000548.4:c.1444-24_1461del
NM_001077183.2:c.1444-24_1461del
NM_001114382.2:c.1444-24_1461del
NM_001318827.1:c.1333-24_1350del
NM_001318829.1:c.1297-24_1314del
NM_001318831.1:c.844-24_861del
NM_001318832.1:c.1477-24_1494del
NM_001363528.1:c.1444-24_1461del
NM_021055.2:c.1444-24_1461del
XM_005255531.4:c.1444-24_1461del
XM_011522636.2:c.1444-24_1461del
XM_011522637.2:c.1444-24_1461del
XM_011522638.2:c.1606-24_1623del
XM_011522639.2:c.1444-24_1461del
XM_011522640.2:c.1444-24_1461del
XM_017023615.1:c.1444-24_1461del
XM_017023616.1:c.1444-24_1461del
XM_017023617.1:c.1606-24_1623del
XM_017023618.1:c.100-24_117del
XM_024450413.1:c.1444-24_1461del
NM_000548.5:c.1444-24_1461del
NM_001370404.1:c.1444-24_1461del
NM_001370405.1:c.1444-24_1461del
NM_001077183.3:c.1444-24_1461del
NM_001114382.3:c.1444-24_1461del
NM_001318827.2:c.1333-24_1350del
NM_001318829.2:c.1297-24_1314del
NM_001318831.2:c.844-24_861del
NM_001318832.2:c.1477-24_1494del
NM_001363528.2:c.1444-24_1461del
NM_021055.3:c.1444-24_1461del