Canonical Allele Identifier: CA2580090842
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1696835
ClinVar RCV Id: RCV002267193

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2075486_2078656del , CM000678.2:g.2075486_2078656del GRCh38
NC_000016.9:g.2125487_2128657del , CM000678.1:g.2125487_2128657del GRCh37
NC_000016.8:g.2065488_2068658del NCBI36
NG_005895.1:g.31181_34351del , LRG_487:g.31181_34351del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*1093-313_*1385-376del
ENST00000642206.2:c.2591-313_2883-376del
ENST00000642365.2:c.2546-313_2967-379del
ENST00000644417.2:c.*1983-313_*3416-376del
ENST00000646464.2:c.*3287_*3892-379del
ENST00000219476.9:c.2546-313_2967-376del
ENST00000350773.9:c.2546-313_2967-376del
ENST00000401874.7:c.2546-313_2838-379del
ENST00000568454.6:c.2579-313_2871-379del
ENST00000642365.1:c.1203-313_1624-379del
ENST00000642561.1:c.2546-313_2838-376del
ENST00000642797.1:c.2546-313_2838-376del
ENST00000642936.1:c.2546-313_2838-379del
ENST00000643088.1:c.2546-313_2838-379del
ENST00000643946.1:c.2546-313_2967-376del
ENST00000644043.1:c.2546-313_2838-376del
ENST00000644329.1:c.2546-313_2838-379del
ENST00000644335.1:c.2546-313_2838-376del
ENST00000644399.1:c.2539-313_2960-379del
ENST00000645024.1:n.828-313_1120-376del
ENST00000646388.1:c.2546-313_2967-376del
ENST00000646634.1:n.1559-313_1851-376del
ENST00000219476.7:c.2546-313_2967-376del
ENST00000350773.8:c.2546-313_2967-376del
ENST00000382538.10:c.2399-313_2691-376del
ENST00000401874.6:c.2546-313_2838-379del
ENST00000439117.6:c.*1845-313_*2137-379del
ENST00000439673.6:c.2435-313_2727-376del
ENST00000568454.5:c.2579-313_2871-379del
NM_000548.3:c.2546-313_2967-376del , LRG_487t1:c.2546-313_2967-376del
NM_001077183.1:c.2546-313_2838-379del
NM_001114382.1:c.2546-313_2967-376del
XM_005255529.3:c.2546-313_2838-376del
XM_005255531.3:c.2546-313_2838-376del
XM_011522636.1:c.2546-313_2967-376del
XM_011522637.1:c.2546-313_2967-379del
XM_011522638.1:c.2435-313_2856-376del
XM_011522639.1:c.2546-313_2838-376del
XM_011522640.1:c.2546-313_2838-379del
XM_011522641.1:c.2435-313_2727-376del
NM_000548.4:c.2546-313_2967-376del
NM_001077183.2:c.2546-313_2838-379del
NM_001114382.2:c.2546-313_2967-376del
NM_001318827.1:c.2435-313_2727-376del
NM_001318829.1:c.2399-313_2691-376del
NM_001318831.1:c.1946-313_2238-379del
NM_001318832.1:c.2579-313_2871-379del
NM_001363528.1:c.2546-313_2838-376del
NM_021055.2:c.2546-313_2838-376del
XM_005255531.4:c.2546-313_2838-376del
XM_011522636.2:c.2546-313_2967-376del
XM_011522637.2:c.2546-313_2967-379del
XM_011522638.2:c.2708-313_3129-376del
XM_011522639.2:c.2546-313_2838-376del
XM_011522640.2:c.2546-313_2838-379del
XM_017023615.1:c.2546-313_2967-379del
XM_017023616.1:c.2546-313_2838-379del
XM_017023617.1:c.2708-313_3000-376del
XM_017023618.1:c.1202-313_1623-376del
XM_024450413.1:c.2546-313_2838-379del
NM_000548.5:c.2546-313_2967-376del
NM_001370404.1:c.2546-313_2838-379del
NM_001370405.1:c.2546-313_2838-376del
NM_001077183.3:c.2546-313_2838-379del
NM_001114382.3:c.2546-313_2967-376del
NM_001318827.2:c.2435-313_2727-376del
NM_001318829.2:c.2399-313_2691-376del
NM_001318831.2:c.1946-313_2238-379del
NM_001318832.2:c.2579-313_2871-379del
NM_001363528.2:c.2546-313_2838-376del
NM_021055.3:c.2546-313_2838-376del