Canonical Allele Identifier: CA16614787
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406064
ClinVar RCV Id: RCV000459990

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2083198_2087918del , CM000678.2:g.2083198_2087918del GRCh38
NC_000016.9:g.2133199_2137919del , CM000678.1:g.2133199_2137919del GRCh37
NC_000016.8:g.2073200_2077920del NCBI36
NG_005895.1:g.38893_43613del , LRG_487:g.38893_43613del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2233-497_*3394del
ENST00000642206.2:c.3731-497_4892del
ENST00000642365.2:c.3881-497_5042del
ENST00000644417.2:c.*4264-497_*5558del
ENST00000646464.2:c.*6136_*7794del
ENST00000219476.9:c.3884-497_5045del
ENST00000350773.9:c.3815-497_4976del
ENST00000401874.7:c.3683-497_4844del
ENST00000568454.6:c.3716-497_4877del
ENST00000569110.2:c.120-497_1268del
ENST00000569930.2:n.1269_2927del
ENST00000642365.1:c.2538-497_3699del
ENST00000642561.1:c.3755-497_4916del
ENST00000642797.1:c.3686-497_4847del
ENST00000642936.1:c.3752-497_4913del
ENST00000643088.1:c.3683-497_4838del
ENST00000643426.1:n.1532-497_2693del
ENST00000643946.1:c.3815-497_4970del
ENST00000644043.1:c.3755-497_4916del
ENST00000644329.1:c.3683-497_4844del
ENST00000644335.1:c.3686-497_4841del
ENST00000644399.1:c.3805-497_4966del
ENST00000645024.1:n.1968-497_3129del
ENST00000646388.1:c.3884-497_5039del
ENST00000646634.1:n.2699-497_3860del
ENST00000646674.1:n.1136-497_2297del
ENST00000647042.1:n.1107-497_2268del
ENST00000647180.1:n.997-497_2158del
ENST00000219476.7:c.3884-497_5045del
ENST00000350773.8:c.3815-497_4976del
ENST00000382538.10:c.3539-497_4700del
ENST00000401874.6:c.3683-497_4844del
ENST00000439117.6:c.*3051-497_*4212del
ENST00000439673.6:c.3575-497_4736del
ENST00000497886.5:n.1642-497_2768del
ENST00000568454.5:c.3716-497_4877del
ENST00000569110.1:c.9_1227del
ENST00000569930.1:n.502_2160del
NM_000548.3:c.3884-497_5045del , LRG_487t1:c.3884-497_5045del
NM_001077183.1:c.3683-497_4844del
NM_001114382.1:c.3815-497_4976del
XM_005255529.3:c.3755-497_4916del
XM_005255531.3:c.3686-497_4847del
XM_011522636.1:c.3938-497_5099del
XM_011522637.1:c.3935-497_5096del
XM_011522638.1:c.3827-497_4988del
XM_011522639.1:c.3809-497_4970del
XM_011522640.1:c.3806-497_4967del
XM_011522641.1:c.3575-497_4736del
NM_000548.4:c.3884-497_5045del
NM_001077183.2:c.3683-497_4844del
NM_001114382.2:c.3815-497_4976del
NM_001318827.1:c.3575-497_4736del
NM_001318829.1:c.3539-497_4700del
NM_001318831.1:c.3152-497_4313del
NM_001318832.1:c.3716-497_4877del
NM_001363528.1:c.3686-497_4847del
NM_021055.2:c.3755-497_4916del
XM_005255531.4:c.3686-497_4847del
XM_011522636.2:c.3938-497_5099del
XM_011522637.2:c.3935-497_5096del
XM_011522638.2:c.4100-497_5261del
XM_011522639.2:c.3809-497_4970del
XM_011522640.2:c.3806-497_4967del
XM_017023615.1:c.3881-497_5042del
XM_017023616.1:c.3752-497_4913del
XM_017023617.1:c.3848-497_5009del
XM_017023618.1:c.2594-497_3755del
XM_024450413.1:c.3683-497_4844del
NM_000548.5:c.3884-497_5045del
NM_001370404.1:c.3752-497_4913del
NM_001370405.1:c.3755-497_4916del
NM_001077183.3:c.3683-497_4844del
NM_001114382.3:c.3815-497_4976del
NM_001318827.2:c.3575-497_4736del
NM_001318829.2:c.3539-497_4700del
NM_001318831.2:c.3152-497_4313del
NM_001318832.2:c.3716-497_4877del
NM_001363528.2:c.3686-497_4847del
NM_021055.3:c.3755-497_4916del