Canonical Allele Identifier: CA2841329130
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2081596dup , CM000678.2:g.2081596dup GRCh38
NC_000016.9:g.2131597dup , CM000678.1:g.2131597dup GRCh37
NC_000016.8:g.2071598dup NCBI36
NG_005895.1:g.37291dup , LRG_487:g.37291dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2030dup
ENST00000642206.2:c.3528dup
ENST00000642365.2:c.3609dup
ENST00000644417.2:c.*4061dup
ENST00000646464.2:c.*4534dup
ENST00000219476.9:c.3612dup
ENST00000350773.9:c.3612dup
ENST00000401874.7:c.3480dup
ENST00000568454.6:c.3513dup
ENST00000642365.1:c.2266dup
ENST00000642561.1:c.3483dup
ENST00000642797.1:c.3483dup
ENST00000642936.1:c.3480dup
ENST00000643088.1:c.3480dup
ENST00000643426.1:n.1260dup
ENST00000643533.1:n.122dup
ENST00000643946.1:c.3612dup
ENST00000644043.1:c.3483dup
ENST00000644329.1:c.3480dup
ENST00000644335.1:c.3483dup
ENST00000644399.1:c.3602dup
ENST00000644722.1:n.758dup
ENST00000645024.1:n.1765dup
ENST00000646388.1:c.3612dup
ENST00000646634.1:n.2496dup
ENST00000646674.1:n.227dup
ENST00000647042.1:n.904dup
ENST00000647180.1:n.92dup
ENST00000219476.7:c.3612dup
ENST00000350773.8:c.3612dup
ENST00000382538.10:c.3336dup
ENST00000401874.6:c.3480dup
ENST00000439117.6:c.*2779dup
ENST00000439673.6:c.3372dup
ENST00000497886.5:n.1439dup
ENST00000568454.5:c.3513dup
NM_000548.3:c.3612dup , LRG_487t1:c.3612dup
NM_001077183.1:c.3480dup
NM_001114382.1:c.3612dup
XM_005255529.3:c.3483dup
XM_005255531.3:c.3483dup
XM_011522636.1:c.3612dup
XM_011522637.1:c.3609dup
XM_011522638.1:c.3501dup
XM_011522639.1:c.3483dup
XM_011522640.1:c.3480dup
XM_011522641.1:c.3372dup
NM_000548.4:c.3612dup
NM_001077183.2:c.3480dup
NM_001114382.2:c.3612dup
NM_001318827.1:c.3372dup
NM_001318829.1:c.3336dup
NM_001318831.1:c.2880dup
NM_001318832.1:c.3513dup
NM_001363528.1:c.3483dup
NM_021055.2:c.3483dup
XM_005255531.4:c.3483dup
XM_011522636.2:c.3612dup
XM_011522637.2:c.3609dup
XM_011522638.2:c.3774dup
XM_011522639.2:c.3483dup
XM_011522640.2:c.3480dup
XM_017023615.1:c.3609dup
XM_017023616.1:c.3480dup
XM_017023617.1:c.3645dup
XM_017023618.1:c.2268dup
XM_024450413.1:c.3480dup
NM_000548.5:c.3612dup
NM_001370404.1:c.3480dup
NM_001370405.1:c.3483dup
NM_001077183.3:c.3480dup
NM_001114382.3:c.3612dup
NM_001318827.2:c.3372dup
NM_001318829.2:c.3336dup
NM_001318831.2:c.2880dup
NM_001318832.2:c.3513dup
NM_001363528.2:c.3483dup
NM_021055.3:c.3483dup