Canonical Allele Identifier: CA022312
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49417
dbSNP Id: rs137854317

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088326del , CM000678.2:g.2088326del GRCh38
NC_000016.9:g.2138327del , CM000678.1:g.2138327del GRCh37
NC_000016.8:g.2078328del NCBI36
NG_005895.1:g.44021del , LRG_487:g.44021del
NG_008617.1:g.54897del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*3608+1del
ENST00000642206.2:c.5106+1del
ENST00000642365.2:c.5256+1del
ENST00000644417.2:c.*5772+1del
ENST00000646464.2:c.*8008+1del
ENST00000219476.9:c.5259+1del
ENST00000350773.9:c.5190+1del
ENST00000401874.7:c.5058+1del
ENST00000568454.6:c.5091+1del
ENST00000569110.2:c.1482+1del
ENST00000569930.2:n.3141+1del
ENST00000642365.1:c.3913+1del
ENST00000642561.1:c.5118+1del
ENST00000642791.1:n.856+1del
ENST00000642797.1:c.5061+1del
ENST00000642936.1:c.5127+1del
ENST00000643088.1:c.5052+1del
ENST00000643426.1:n.2907+1del
ENST00000643946.1:c.5184+1del
ENST00000644043.1:c.5130+1del
ENST00000644329.1:c.5145+1del
ENST00000644335.1:c.5055+1del
ENST00000644399.1:c.5180+1del
ENST00000645024.1:n.3343+1del
ENST00000646388.1:c.5253+1del
ENST00000646634.1:n.4074+1del
ENST00000646674.1:n.2511+1del
ENST00000647042.1:n.2482+1del
ENST00000647180.1:n.2372+1del
ENST00000219476.7:c.5259+1del
ENST00000350773.8:c.5190+1del
ENST00000382538.10:c.4914+1del
ENST00000401874.6:c.5058+1del
ENST00000439117.6:c.*4426+1del
ENST00000439673.6:c.4950+1del
ENST00000497886.5:n.2982+1del
ENST00000568454.5:c.5091+1del
ENST00000569110.1:c.1441+1del
ENST00000569930.1:n.2374+1del
NM_000548.3:c.5259+1del , LRG_487t1:c.5259+1del
NM_001077183.1:c.5058+1del
NM_001114382.1:c.5190+1del
XM_005255529.3:c.5130+1del
XM_005255531.3:c.5061+1del
XM_011522636.1:c.5313+1del
XM_011522637.1:c.5310+1del
XM_011522638.1:c.5202+1del
XM_011522639.1:c.5184+1del
XM_011522640.1:c.5181+1del
XM_011522641.1:c.4950+1del
NM_000548.4:c.5259+1del
NM_001077183.2:c.5058+1del
NM_001114382.2:c.5190+1del
NM_001318827.1:c.4950+1del
NM_001318829.1:c.4914+1del
NM_001318831.1:c.4527+1del
NM_001318832.1:c.5091+1del
NM_001363528.1:c.5061+1del
NM_021055.2:c.5130+1del
XM_005255531.4:c.5061+1del
XM_011522636.2:c.5313+1del
XM_011522637.2:c.5310+1del
XM_011522638.2:c.5475+1del
XM_011522639.2:c.5184+1del
XM_011522640.2:c.5181+1del
XM_017023615.1:c.5256+1del
XM_017023616.1:c.5127+1del
XM_017023617.1:c.5223+1del
XM_017023618.1:c.3969+1del
XM_024450413.1:c.5145+1del
NM_000548.5:c.5259+1del
NM_001370404.1:c.5127+1del
NM_001370405.1:c.5118+1del
NM_001077183.3:c.5058+1del
NM_001114382.3:c.5190+1del
NM_001318827.2:c.4950+1del
NM_001318829.2:c.4914+1del
NM_001318831.2:c.4527+1del
NM_001318832.2:c.5091+1del
NM_001363528.2:c.5061+1del
NM_021055.3:c.5130+1del