Canonical Allele Identifier: CA2202017880
Gene: TSC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084947_2084949delinsGCA , CM000678.2:g.2084947_2084949delinsGCA GRCh38
NC_000016.9:g.2134948_2134950delinsGCA , CM000678.1:g.2134948_2134950delinsGCA GRCh37
NC_000016.8:g.2074949_2074951delinsGCA NCBI36
NG_005895.1:g.40642_40644delinsGCA , LRG_487:g.40642_40644delinsGCA

Transcript Alleles

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