Canonical Allele Identifier: CA019105
Gene: TSC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 50076
dbSNP Id: rs137854314

User contributed link-outs

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
NM_000548.3:c.3401del , LRG_487t1:c.3401del
NM_001077183.1:c.3269del VV
NM_001114382.1:c.3401del VV
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 VV
NM_001077183.2:c.3269del VV
NM_001114382.2:c.3401del VV
NM_001318827.1:c.3161del VV
NM_001318829.1:c.3125del VV
NM_001318831.1:c.2669del VV
NM_001318832.1:c.3302del VV
NM_001363528.1:c.3272del VV
NM_021055.2:c.3272del VV
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 VV MANE Preferred
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