Canonical Allele Identifier: CA019105
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50076
dbSNP Id: rs137854314

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2080168del , CM000678.2:g.2080168del GRCh38
NC_000016.9:g.2130169del , CM000678.1:g.2130169del GRCh37
NC_000016.8:g.2070170del NCBI36
NG_005895.1:g.35863del , LRG_487:g.35863del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*1819del
ENST00000642206.2:c.3317del
ENST00000642365.2:c.3398del
ENST00000644417.2:c.*3850del
ENST00000646464.2:c.*4323del
ENST00000219476.9:c.3401del
ENST00000350773.9:c.3401del
ENST00000401874.7:c.3269del
ENST00000568454.6:c.3302del
ENST00000642365.1:c.2055del
ENST00000642561.1:c.3272del
ENST00000642797.1:c.3272del
ENST00000642936.1:c.3269del
ENST00000643088.1:c.3269del
ENST00000643946.1:c.3401del
ENST00000644043.1:c.3272del
ENST00000644329.1:c.3269del
ENST00000644335.1:c.3272del
ENST00000644399.1:c.3391del
ENST00000644722.1:n.547del
ENST00000645024.1:n.1554del
ENST00000646388.1:c.3401del
ENST00000646634.1:n.2285del
ENST00000646674.1:n.16del
ENST00000647042.1:n.693del
ENST00000219476.7:c.3401del
ENST00000350773.8:c.3401del
ENST00000382538.10:c.3125del
ENST00000401874.6:c.3269del
ENST00000439117.6:c.*2568del
ENST00000439673.6:c.3161del
ENST00000497886.5:n.1228del
ENST00000568366.5:n.758del
ENST00000568454.5:c.3302del
NM_000548.3:c.3401del , LRG_487t1:c.3401del
NM_001077183.1:c.3269del
NM_001114382.1:c.3401del
XM_005255529.3:c.3272del
XM_005255531.3:c.3272del
XM_011522636.1:c.3401del
XM_011522637.1:c.3398del
XM_011522638.1:c.3290del
XM_011522639.1:c.3272del
XM_011522640.1:c.3269del
XM_011522641.1:c.3161del
NM_000548.4:c.3401del
NM_001077183.2:c.3269del
NM_001114382.2:c.3401del
NM_001318827.1:c.3161del
NM_001318829.1:c.3125del
NM_001318831.1:c.2669del
NM_001318832.1:c.3302del
NM_001363528.1:c.3272del
NM_021055.2:c.3272del
XM_005255531.4:c.3272del
XM_011522636.2:c.3401del
XM_011522637.2:c.3398del
XM_011522638.2:c.3563del
XM_011522639.2:c.3272del
XM_011522640.2:c.3269del
XM_017023615.1:c.3398del
XM_017023616.1:c.3269del
XM_017023617.1:c.3434del
XM_017023618.1:c.2057del
XM_024450413.1:c.3269del
NM_000548.5:c.3401del
NM_001370404.1:c.3269del
NM_001370405.1:c.3272del
NM_001077183.3:c.3269del
NM_001114382.3:c.3401del
NM_001318827.2:c.3161del
NM_001318829.2:c.3125del
NM_001318831.2:c.2669del
NM_001318832.2:c.3302del
NM_001363528.2:c.3272del
NM_021055.3:c.3272del