Canonical Allele Identifier: CA263054
Gene: TSC2 HGNC NCBI

Linked Data

dbSNP Id: rs137854036

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088141_2088142del , CM000678.2:g.2088141_2088142del GRCh38
NC_000016.9:g.2138142_2138143del , CM000678.1:g.2138142_2138143del GRCh37
NC_000016.8:g.2078143_2078144del NCBI36
NG_005895.1:g.43836_43837del , LRG_487:g.43836_43837del
NG_008617.1:g.55081_55082del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*3509+2_*3509+3del
ENST00000642206.2:c.5007+2_5007+3del
ENST00000642365.2:c.5157+2_5157+3del
ENST00000644417.2:c.*5673+2_*5673+3del
ENST00000646464.2:c.*7909+2_*7909+3del
ENST00000219476.9:c.5160+2_5160+3del
ENST00000350773.9:c.5091+2_5091+3del
ENST00000401874.7:c.4959+2_4959+3del
ENST00000568454.6:c.4992+2_4992+3del
ENST00000569110.2:c.1383+2_1383+3del
ENST00000569930.2:n.3042+2_3042+3del
ENST00000642365.1:c.3814+2_3814+3del
ENST00000642561.1:c.5031+2_5031+3del
ENST00000642791.1:n.757+2_757+3del
ENST00000642797.1:c.4962+2_4962+3del
ENST00000642936.1:c.5028+2_5028+3del
ENST00000643088.1:c.4953+2_4953+3del
ENST00000643426.1:n.2808+2_2808+3del
ENST00000643946.1:c.5085+2_5085+3del
ENST00000644043.1:c.5031+2_5031+3del
ENST00000644329.1:c.4961_4962del ENSP00000496611.1:p.Val1654GlufsTer8
ENST00000644335.1:c.4956+2_4956+3del
ENST00000644399.1:c.5081+2_5081+3del
ENST00000645024.1:n.3244+2_3244+3del
ENST00000646388.1:c.5154+2_5154+3del
ENST00000646634.1:n.3975+2_3975+3del
ENST00000646674.1:n.2412+2_2412+3del
ENST00000647042.1:n.2383+2_2383+3del
ENST00000647180.1:n.2273+2_2273+3del
ENST00000219476.7:c.5160+2_5160+3del
ENST00000350773.8:c.5091+2_5091+3del
ENST00000382538.10:c.4815+2_4815+3del
ENST00000401874.6:c.4959+2_4959+3del
ENST00000439117.6:c.*4327+2_*4327+3del
ENST00000439673.6:c.4851+2_4851+3del
ENST00000497886.5:n.2883+2_2883+3del
ENST00000568454.5:c.4992+2_4992+3del
ENST00000569110.1:c.1342+2_1342+3del
ENST00000569930.1:n.2275+2_2275+3del
NM_000548.3:c.5160+2_5160+3del , LRG_487t1:c.5160+2_5160+3del
NM_001077183.1:c.4959+2_4959+3del
NM_001114382.1:c.5091+2_5091+3del
XM_005255529.3:c.5031+2_5031+3del
XM_005255531.3:c.4962+2_4962+3del
XM_011522636.1:c.5214+2_5214+3del
XM_011522637.1:c.5211+2_5211+3del
XM_011522638.1:c.5103+2_5103+3del
XM_011522639.1:c.5085+2_5085+3del
XM_011522640.1:c.5082+2_5082+3del
XM_011522641.1:c.4851+2_4851+3del
NM_000548.4:c.5160+2_5160+3del
NM_001077183.2:c.4959+2_4959+3del
NM_001114382.2:c.5091+2_5091+3del
NM_001318827.1:c.4851+2_4851+3del
NM_001318829.1:c.4815+2_4815+3del
NM_001318831.1:c.4428+2_4428+3del
NM_001318832.1:c.4992+2_4992+3del
NM_001363528.1:c.4962+2_4962+3del
NM_021055.2:c.5031+2_5031+3del
XM_005255531.4:c.4962+2_4962+3del
XM_011522636.2:c.5214+2_5214+3del
XM_011522637.2:c.5211+2_5211+3del
XM_011522638.2:c.5376+2_5376+3del
XM_011522639.2:c.5085+2_5085+3del
XM_011522640.2:c.5082+2_5082+3del
XM_017023615.1:c.5157+2_5157+3del
XM_017023616.1:c.5028+2_5028+3del
XM_017023617.1:c.5124+2_5124+3del
XM_017023618.1:c.3870+2_3870+3del
XM_024450413.1:c.4961_4962del XP_024306181.1:p.Val1654GlufsTer8
NM_000548.5:c.5160+2_5160+3del
NM_001370404.1:c.5028+2_5028+3del
NM_001370405.1:c.5031+2_5031+3del
NM_001077183.3:c.4959+2_4959+3del
NM_001114382.3:c.5091+2_5091+3del
NM_001318827.2:c.4851+2_4851+3del
NM_001318829.2:c.4815+2_4815+3del
NM_001318831.2:c.4428+2_4428+3del
NM_001318832.2:c.4992+2_4992+3del
NM_001363528.2:c.4962+2_4962+3del
NM_021055.3:c.5031+2_5031+3del