Canonical Allele Identifier: CA319610
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207794
ClinVar RCV Id: RCV000190089
dbSNP Id: rs796053520

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085324_2085328del , CM000678.2:g.2085324_2085328del GRCh38
NC_000016.9:g.2135325_2135329del , CM000678.1:g.2135325_2135329del GRCh37
NC_000016.8:g.2075326_2075330del NCBI36
NG_005895.1:g.41019_41023del , LRG_487:g.41019_41023del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3011+2_*3011+6del
ENST00000642206.2:c.4509+2_4509+6del
ENST00000642365.2:c.4659+2_4659+6del
ENST00000644417.2:c.*5042+2_*5042+6del
ENST00000646464.2:c.*7411+2_*7411+6del
ENST00000219476.9:c.4662+2_4662+6del
ENST00000350773.9:c.4593+2_4593+6del
ENST00000401874.7:c.4461+2_4461+6del
ENST00000568454.6:c.4494+2_4494+6del
ENST00000569110.2:c.885+2_885+6del
ENST00000569930.2:n.2544+2_2544+6del
ENST00000642365.1:c.3316+2_3316+6del
ENST00000642561.1:c.4533+2_4533+6del
ENST00000642728.1:n.844+2_844+6del
ENST00000642791.1:n.259+2_259+6del
ENST00000642797.1:c.4464+2_4464+6del
ENST00000642936.1:c.4530+2_4530+6del
ENST00000643088.1:c.4455+2_4455+6del
ENST00000643177.1:n.676+2_676+6del
ENST00000643426.1:n.2310+2_2310+6del
ENST00000643946.1:c.4587+2_4587+6del
ENST00000644043.1:c.4533+2_4533+6del
ENST00000644278.1:n.144+2_144+6del
ENST00000644329.1:c.4461+2_4461+6del
ENST00000644335.1:c.4458+2_4458+6del
ENST00000644399.1:c.4583+2_4583+6del
ENST00000645024.1:n.2746+2_2746+6del
ENST00000646388.1:c.4656+2_4656+6del
ENST00000646634.1:n.3477+2_3477+6del
ENST00000646674.1:n.1914+2_1914+6del
ENST00000647042.1:n.1885+2_1885+6del
ENST00000647180.1:n.1775+2_1775+6del
ENST00000219476.7:c.4662+2_4662+6del
ENST00000350773.8:c.4593+2_4593+6del
ENST00000382538.10:c.4317+2_4317+6del
ENST00000401874.6:c.4461+2_4461+6del
ENST00000439117.6:c.*3829+2_*3829+6del
ENST00000439673.6:c.4353+2_4353+6del
ENST00000497886.5:n.2420+2_2420+6del
ENST00000568454.5:c.4494+2_4494+6del
ENST00000569110.1:c.844+2_844+6del
ENST00000569930.1:n.1777+2_1777+6del
NM_000548.3:c.4662+2_4662+6del , LRG_487t1:c.4662+2_4662+6del
NM_001077183.1:c.4461+2_4461+6del
NM_001114382.1:c.4593+2_4593+6del
XM_005255529.3:c.4533+2_4533+6del
XM_005255531.3:c.4464+2_4464+6del
XM_011522636.1:c.4716+2_4716+6del
XM_011522637.1:c.4713+2_4713+6del
XM_011522638.1:c.4605+2_4605+6del
XM_011522639.1:c.4587+2_4587+6del
XM_011522640.1:c.4584+2_4584+6del
XM_011522641.1:c.4353+2_4353+6del
NM_000548.4:c.4662+2_4662+6del
NM_001077183.2:c.4461+2_4461+6del
NM_001114382.2:c.4593+2_4593+6del
NM_001318827.1:c.4353+2_4353+6del
NM_001318829.1:c.4317+2_4317+6del
NM_001318831.1:c.3930+2_3930+6del
NM_001318832.1:c.4494+2_4494+6del
NM_001363528.1:c.4464+2_4464+6del
NM_021055.2:c.4533+2_4533+6del
XM_005255531.4:c.4464+2_4464+6del
XM_011522636.2:c.4716+2_4716+6del
XM_011522637.2:c.4713+2_4713+6del
XM_011522638.2:c.4878+2_4878+6del
XM_011522639.2:c.4587+2_4587+6del
XM_011522640.2:c.4584+2_4584+6del
XM_017023615.1:c.4659+2_4659+6del
XM_017023616.1:c.4530+2_4530+6del
XM_017023617.1:c.4626+2_4626+6del
XM_017023618.1:c.3372+2_3372+6del
XM_024450413.1:c.4461+2_4461+6del
NM_000548.5:c.4662+2_4662+6del
NM_001370404.1:c.4530+2_4530+6del
NM_001370405.1:c.4533+2_4533+6del
NM_001077183.3:c.4461+2_4461+6del
NM_001114382.3:c.4593+2_4593+6del
NM_001318827.2:c.4353+2_4353+6del
NM_001318829.2:c.4317+2_4317+6del
NM_001318831.2:c.3930+2_3930+6del
NM_001318832.2:c.4494+2_4494+6del
NM_001363528.2:c.4464+2_4464+6del
NM_021055.3:c.4533+2_4533+6del