Canonical Allele Identifier: CA2499223314
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1013087
ClinVar RCV Id: RCV001311415

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2079334_2079542del , CM000678.2:g.2079334_2079542del GRCh38
NC_000016.9:g.2129335_2129543del , CM000678.1:g.2129335_2129543del GRCh37
NC_000016.8:g.2069336_2069544del NCBI36
NG_005895.1:g.35029_35237del , LRG_487:g.35029_35237del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*1608_*1703-15del
ENST00000642206.2:c.3106_3201-15del
ENST00000642365.2:c.3187_3282-15del
ENST00000644417.2:c.*3639_*3734-15del
ENST00000646464.2:c.*4112_*4207-15del
ENST00000219476.9:c.3190_3285-15del
ENST00000350773.9:c.3190_3285-15del
ENST00000401874.7:c.3058_3153-15del
ENST00000471143.6:c.418_513-15del
ENST00000568454.6:c.3091_3186-15del
ENST00000642365.1:c.1844_1939-15del
ENST00000642561.1:c.3061_3156-15del
ENST00000642797.1:c.3061_3156-15del
ENST00000642936.1:c.3058_3153-15del
ENST00000643088.1:c.3058_3153-15del
ENST00000643946.1:c.3190_3285-15del
ENST00000644043.1:c.3061_3156-15del
ENST00000644329.1:c.3058_3153-15del
ENST00000644335.1:c.3061_3156-15del
ENST00000644399.1:c.3180_3275-15del
ENST00000644722.1:n.336_431-15del
ENST00000645024.1:n.1343_1438-15del
ENST00000646388.1:c.3190_3285-15del
ENST00000646634.1:n.2074_2169-15del
ENST00000647042.1:n.482_577-15del
ENST00000219476.7:c.3190_3285-15del
ENST00000350773.8:c.3190_3285-15del
ENST00000382538.10:c.2914_3009-15del
ENST00000401874.6:c.3058_3153-15del
ENST00000439117.6:c.*2357_*2452-15del
ENST00000439673.6:c.2950_3045-15del
ENST00000471143.5:c.416_511-15del
ENST00000483020.5:c.430_525-15del
ENST00000497886.5:n.1017_1112-15del
ENST00000561695.1:n.415_510-15del
ENST00000568366.5:n.547_642-15del
ENST00000568454.5:c.3091_3186-15del
NM_000548.3:c.3190_3285-15del , LRG_487t1:c.3190_3285-15del
NM_001077183.1:c.3058_3153-15del
NM_001114382.1:c.3190_3285-15del
XM_005255529.3:c.3061_3156-15del
XM_005255531.3:c.3061_3156-15del
XM_011522636.1:c.3190_3285-15del
XM_011522637.1:c.3187_3282-15del
XM_011522638.1:c.3079_3174-15del
XM_011522639.1:c.3061_3156-15del
XM_011522640.1:c.3058_3153-15del
XM_011522641.1:c.2950_3045-15del
NM_000548.4:c.3190_3285-15del
NM_001077183.2:c.3058_3153-15del
NM_001114382.2:c.3190_3285-15del
NM_001318827.1:c.2950_3045-15del
NM_001318829.1:c.2914_3009-15del
NM_001318831.1:c.2458_2553-15del
NM_001318832.1:c.3091_3186-15del
NM_001363528.1:c.3061_3156-15del
NM_021055.2:c.3061_3156-15del
XM_005255531.4:c.3061_3156-15del
XM_011522636.2:c.3190_3285-15del
XM_011522637.2:c.3187_3282-15del
XM_011522638.2:c.3352_3447-15del
XM_011522639.2:c.3061_3156-15del
XM_011522640.2:c.3058_3153-15del
XM_017023615.1:c.3187_3282-15del
XM_017023616.1:c.3058_3153-15del
XM_017023617.1:c.3223_3318-15del
XM_017023618.1:c.1846_1941-15del
XM_024450413.1:c.3058_3153-15del
NM_000548.5:c.3190_3285-15del
NM_001370404.1:c.3058_3153-15del
NM_001370405.1:c.3061_3156-15del
NM_001077183.3:c.3058_3153-15del
NM_001114382.3:c.3190_3285-15del
NM_001318827.2:c.2950_3045-15del
NM_001318829.2:c.2914_3009-15del
NM_001318831.2:c.2458_2553-15del
NM_001318832.2:c.3091_3186-15del
NM_001363528.2:c.3061_3156-15del
NM_021055.3:c.3061_3156-15del