Canonical Allele Identifier: CA1139664299
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 946066
ClinVar RCV Id: RCV001216852
dbSNP Id: rs2087026946

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2064391_2064521del , CM000678.2:g.2064391_2064521del GRCh38
NC_000016.9:g.2114392_2114522del , CM000678.1:g.2114392_2114522del GRCh37
NC_000016.8:g.2054393_2054523del NCBI36
NG_005895.1:g.20086_20216del , LRG_487:g.20086_20216del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*110_*146+94del
ENST00000642206.2:c.1608_1644+94del
ENST00000642365.2:c.1563_1599+94del
ENST00000644417.2:c.*1000_*1036+94del
ENST00000646464.2:c.*1168_*1204+94del
ENST00000219476.9:c.1563_1599+94del
ENST00000350773.9:c.1563_1599+94del
ENST00000401874.7:c.1563_1599+94del
ENST00000463601.2:n.1691_1821del
ENST00000568454.6:c.1596_1632+94del
ENST00000642365.1:c.220_256+94del
ENST00000642561.1:c.1563_1599+94del
ENST00000642797.1:c.1563_1599+94del
ENST00000642812.1:n.1608_1738del
ENST00000642936.1:c.1563_1599+94del
ENST00000643088.1:c.1563_1599+94del
ENST00000643149.1:n.3573_3703del
ENST00000643298.1:c.*1065_*1101+94del
ENST00000643745.1:c.*495_*625del ENSP00000495948.1:n.*495_*625del
ENST00000643946.1:c.1563_1599+94del
ENST00000644043.1:c.1563_1599+94del
ENST00000644135.1:c.1563_1599+94del
ENST00000644222.1:n.1650_1780del
ENST00000644329.1:c.1563_1599+94del
ENST00000644335.1:c.1563_1599+94del
ENST00000644399.1:c.1556_1592+94del
ENST00000644665.1:n.2737_2867del
ENST00000644847.1:n.555_591+94del
ENST00000645591.1:n.2621_2751del
ENST00000646388.1:c.1563_1599+94del
ENST00000646634.1:n.576_612+94del
ENST00000647234.1:n.3321_3451del
ENST00000647242.1:n.2199_2329del
ENST00000219476.7:c.1563_1599+94del
ENST00000350773.8:c.1563_1599+94del
ENST00000382538.10:c.1416_1452+94del
ENST00000401874.6:c.1563_1599+94del
ENST00000439117.6:c.*862_*898+94del
ENST00000439673.6:c.1452_1488+94del
ENST00000490108.1:n.336_372+94del
ENST00000568238.1:n.321_357+94del
ENST00000568454.5:c.1596_1632+94del
ENST00000568566.5:c.203_239+94del
NM_000548.3:c.1563_1599+94del , LRG_487t1:c.1563_1599+94del
NM_001077183.1:c.1563_1599+94del
NM_001114382.1:c.1563_1599+94del
XM_005255529.3:c.1563_1599+94del
XM_005255531.3:c.1563_1599+94del
XM_011522636.1:c.1563_1599+94del
XM_011522637.1:c.1563_1599+94del
XM_011522638.1:c.1452_1488+94del
XM_011522639.1:c.1563_1599+94del
XM_011522640.1:c.1563_1599+94del
XM_011522641.1:c.1452_1488+94del
NM_000548.4:c.1563_1599+94del
NM_001077183.2:c.1563_1599+94del
NM_001114382.2:c.1563_1599+94del
NM_001318827.1:c.1452_1488+94del
NM_001318829.1:c.1416_1452+94del
NM_001318831.1:c.963_999+94del
NM_001318832.1:c.1596_1632+94del
NM_001363528.1:c.1563_1599+94del
NM_021055.2:c.1563_1599+94del
XM_005255531.4:c.1563_1599+94del
XM_011522636.2:c.1563_1599+94del
XM_011522637.2:c.1563_1599+94del
XM_011522638.2:c.1725_1761+94del
XM_011522639.2:c.1563_1599+94del
XM_011522640.2:c.1563_1599+94del
XM_017023615.1:c.1563_1599+94del
XM_017023616.1:c.1563_1599+94del
XM_017023617.1:c.1725_1761+94del
XM_017023618.1:c.219_255+94del
XM_024450413.1:c.1563_1599+94del
NM_000548.5:c.1563_1599+94del
NM_001370404.1:c.1563_1599+94del
NM_001370405.1:c.1563_1599+94del
NM_001077183.3:c.1563_1599+94del
NM_001114382.3:c.1563_1599+94del
NM_001318827.2:c.1452_1488+94del
NM_001318829.2:c.1416_1452+94del
NM_001318831.2:c.963_999+94del
NM_001318832.2:c.1596_1632+94del
NM_001363528.2:c.1563_1599+94del
NM_021055.3:c.1563_1599+94del