Canonical Allele Identifier: CA264432
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64933
ClinVar RCV Id: RCV000055136
dbSNP Id: rs397514950
MyVariant Identifiers: chr16:g.2134949_2134950del (hg19) chr16:g.2084948_2084949del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084948_2084949del , CM000678.2:g.2084948_2084949del GRCh38
NC_000016.9:g.2134949_2134950del , CM000678.1:g.2134949_2134950del GRCh37
NC_000016.8:g.2074950_2074951del NCBI36
NG_005895.1:g.40643_40644del , LRG_487:g.40643_40644del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2843-3_*2843-2del ENSP00000455997.2:n.*2843-3_*2843-2del
ENST00000642206.2:c.4341-3_4341-2del ENSP00000495146.2:n.4341-3_4341-2del
ENST00000642365.2:c.4491-3_4491-2del ENSP00000495459.2:n.4491-3_4491-2del
ENST00000644417.2:c.*4874-3_*4874-2del ENSP00000493912.2:n.*4874-3_*4874-2del
ENST00000646464.2:c.*7243-3_*7243-2del ENSP00000496610.2:n.*7243-3_*7243-2del
ENST00000219476.9:c.4494-3_4494-2del MANE Select ENSP00000219476.3:n.4494-3_4494-2del
ENST00000350773.9:c.4425-3_4425-2del ENSP00000344383.4:n.4425-3_4425-2del
ENST00000401874.7:c.4293-3_4293-2del ENSP00000384468.2:n.4293-3_4293-2del
ENST00000568454.6:c.4326-3_4326-2del ENSP00000454487.1:n.4326-3_4326-2del
ENST00000569110.2:c.717-3_717-2del
ENST00000569930.2:n.2376-3_2376-2del
ENST00000642365.1:c.3148-3_3148-2del
ENST00000642561.1:c.4365-3_4365-2del ENSP00000495099.1:n.4365-3_4365-2del
ENST00000642728.1:n.676-3_676-2del
ENST00000642797.1:c.4296-3_4296-2del ENSP00000493846.1:n.4296-3_4296-2del
ENST00000642936.1:c.4362-3_4362-2del ENSP00000494514.1:n.4362-3_4362-2del
ENST00000643088.1:c.4293-3_4293-2del ENSP00000494747.1:n.4293-3_4293-2del
ENST00000643177.1:n.508-3_508-2del
ENST00000643426.1:n.2142-3_2142-2del
ENST00000643946.1:c.4425-3_4425-2del ENSP00000495927.1:n.4425-3_4425-2del
ENST00000644043.1:c.4365-3_4365-2del ENSP00000496262.1:n.4365-3_4365-2del
ENST00000644329.1:c.4293-3_4293-2del ENSP00000496611.1:n.4293-3_4293-2del
ENST00000644335.1:c.4296-3_4296-2del ENSP00000496317.1:n.4296-3_4296-2del
ENST00000644399.1:c.4415-3_4415-2del
ENST00000645024.1:n.2578-3_2578-2del
ENST00000646388.1:c.4494-3_4494-2del ENSP00000495921.1:n.4494-3_4494-2del
ENST00000646634.1:n.3309-3_3309-2del
ENST00000646674.1:n.1746-3_1746-2del
ENST00000647042.1:n.1717-3_1717-2del
ENST00000647180.1:n.1607-3_1607-2del
ENST00000219476.7:c.4494-3_4494-2del ENSP00000219476.3:n.4494-3_4494-2del
ENST00000350773.8:c.4425-3_4425-2del ENSP00000344383.4:n.4425-3_4425-2del
ENST00000382538.10:c.4149-3_4149-2del ENSP00000371978.6:n.4149-3_4149-2del
ENST00000401874.6:c.4293-3_4293-2del ENSP00000384468.2:n.4293-3_4293-2del
ENST00000439117.6:c.*3661-3_*3661-2del ENSP00000406980.2:n.*3661-3_*3661-2del
ENST00000439673.6:c.4185-3_4185-2del ENSP00000399232.2:n.4185-3_4185-2del
ENST00000497886.5:n.2252-3_2252-2del
ENST00000568454.5:c.4326-3_4326-2del ENSP00000454487.1:n.4326-3_4326-2del
ENST00000569110.1:c.676-3_676-2del
ENST00000569930.1:n.1609-3_1609-2del
NM_000548.3:c.4494-3_4494-2del , LRG_487t1:c.4494-3_4494-2del NP_000539.2:n.4494-3_4494-2del
NM_001077183.1:c.4293-3_4293-2del NP_001070651.1:n.4293-3_4293-2del
NM_001114382.1:c.4425-3_4425-2del NP_001107854.1:n.4425-3_4425-2del
XM_005255529.3:c.4365-3_4365-2del XP_005255586.2:n.4365-3_4365-2del
XM_005255531.3:c.4296-3_4296-2del XP_005255588.2:n.4296-3_4296-2del
XM_011522636.1:c.4548-3_4548-2del XP_011520938.1:n.4548-3_4548-2del
XM_011522637.1:c.4545-3_4545-2del XP_011520939.1:n.4545-3_4545-2del
XM_011522638.1:c.4437-3_4437-2del XP_011520940.1:n.4437-3_4437-2del
XM_011522639.1:c.4419-3_4419-2del XP_011520941.1:n.4419-3_4419-2del
XM_011522640.1:c.4416-3_4416-2del XP_011520942.1:n.4416-3_4416-2del
XM_011522641.1:c.4185-3_4185-2del XP_011520943.1:n.4185-3_4185-2del
NM_000548.4:c.4494-3_4494-2del NP_000539.2:n.4494-3_4494-2del
NM_001077183.2:c.4293-3_4293-2del NP_001070651.1:n.4293-3_4293-2del
NM_001114382.2:c.4425-3_4425-2del NP_001107854.1:n.4425-3_4425-2del
NM_001318827.1:c.4185-3_4185-2del NP_001305756.1:n.4185-3_4185-2del
NM_001318829.1:c.4149-3_4149-2del NP_001305758.1:n.4149-3_4149-2del
NM_001318831.1:c.3762-3_3762-2del NP_001305760.1:n.3762-3_3762-2del
NM_001318832.1:c.4326-3_4326-2del NP_001305761.1:n.4326-3_4326-2del
NM_001363528.1:c.4296-3_4296-2del NP_001350457.1:n.4296-3_4296-2del
NM_021055.2:c.4365-3_4365-2del NP_066399.2:n.4365-3_4365-2del
XM_005255531.4:c.4296-3_4296-2del XP_005255588.2:n.4296-3_4296-2del
XM_011522636.2:c.4548-3_4548-2del XP_011520938.1:n.4548-3_4548-2del
XM_011522637.2:c.4545-3_4545-2del XP_011520939.1:n.4545-3_4545-2del
XM_011522638.2:c.4710-3_4710-2del XP_011520940.2:n.4710-3_4710-2del
XM_011522639.2:c.4419-3_4419-2del XP_011520941.1:n.4419-3_4419-2del
XM_011522640.2:c.4416-3_4416-2del XP_011520942.1:n.4416-3_4416-2del
XM_017023615.1:c.4491-3_4491-2del XP_016879104.1:n.4491-3_4491-2del
XM_017023616.1:c.4362-3_4362-2del XP_016879105.1:n.4362-3_4362-2del
XM_017023617.1:c.4458-3_4458-2del XP_016879106.1:n.4458-3_4458-2del
XM_017023618.1:c.3204-3_3204-2del XP_016879107.1:n.3204-3_3204-2del
XM_024450413.1:c.4293-3_4293-2del XP_024306181.1:n.4293-3_4293-2del
NM_000548.5:c.4494-3_4494-2del MANE Select NP_000539.2:n.4494-3_4494-2del
NM_001370404.1:c.4362-3_4362-2del NP_001357333.1:n.4362-3_4362-2del
NM_001370405.1:c.4365-3_4365-2del NP_001357334.1:n.4365-3_4365-2del
NM_001077183.3:c.4293-3_4293-2del NP_001070651.1:n.4293-3_4293-2del
NM_001114382.3:c.4425-3_4425-2del NP_001107854.1:n.4425-3_4425-2del
NM_001318827.2:c.4185-3_4185-2del NP_001305756.1:n.4185-3_4185-2del
NM_001318829.2:c.4149-3_4149-2del NP_001305758.1:n.4149-3_4149-2del
NM_001318831.2:c.3762-3_3762-2del NP_001305760.1:n.3762-3_3762-2del
NM_001318832.2:c.4326-3_4326-2del NP_001305761.1:n.4326-3_4326-2del
NM_001363528.2:c.4296-3_4296-2del NP_001350457.1:n.4296-3_4296-2del
NM_021055.3:c.4365-3_4365-2del NP_066399.2:n.4365-3_4365-2del
Search 100 bp 5'
Search 100 bp 3'