Canonical Allele Identifier: CA2202031297
Gene: TSC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088199_2088202delinsTGAG , CM000678.2:g.2088199_2088202delinsTGAG GRCh38
NC_000016.9:g.2138200_2138203delinsTGAG , CM000678.1:g.2138200_2138203delinsTGAG GRCh37
NC_000016.8:g.2078201_2078204delinsTGAG NCBI36
NG_005895.1:g.43894_43897delinsTGAG , LRG_487:g.43894_43897delinsTGAG
NG_008617.1:g.55019_55022delinsCTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3510-28_*3510-25delinsTGAG ENSP00000455997.2:n.*3510-28_*3510-25delinsTGAG
ENST00000642206.2:c.5008-28_5008-25delinsTGAG ENSP00000495146.2:n.5008-28_5008-25delinsTGAG
ENST00000642365.2:c.5158-28_5158-25delinsTGAG ENSP00000495459.2:n.5158-28_5158-25delinsTGAG
ENST00000644417.2:c.*5674-28_*5674-25delinsTGAG ENSP00000493912.2:n.*5674-28_*5674-25delinsTGAG
ENST00000646464.2:c.*7910-28_*7910-25delinsTGAG ENSP00000496610.2:n.*7910-28_*7910-25delinsTGAG
ENST00000219476.9:c.5161-28_5161-25delinsTGAG MANE Select ENSP00000219476.3:n.5161-28_5161-25delinsTGAG
ENST00000350773.9:c.5092-28_5092-25delinsTGAG ENSP00000344383.4:n.5092-28_5092-25delinsTGAG
ENST00000401874.7:c.4960-28_4960-25delinsTGAG ENSP00000384468.2:n.4960-28_4960-25delinsTGAG
ENST00000568454.6:c.4993-28_4993-25delinsTGAG ENSP00000454487.1:n.4993-28_4993-25delinsTGAG
ENST00000569110.2:c.1384-28_1384-25delinsTGAG
ENST00000569930.2:n.3043-28_3043-25delinsTGAG
ENST00000642365.1:c.3815-28_3815-25delinsTGAG
ENST00000642561.1:c.5032-40_5032-37delinsTGAG ENSP00000495099.1:n.5032-40_5032-37delinsTGAG
ENST00000642791.1:n.758-28_758-25delinsTGAG
ENST00000642797.1:c.4963-28_4963-25delinsTGAG ENSP00000493846.1:n.4963-28_4963-25delinsTGAG
ENST00000642936.1:c.5029-28_5029-25delinsTGAG ENSP00000494514.1:n.5029-28_5029-25delinsTGAG
ENST00000643088.1:c.4954-28_4954-25delinsTGAG ENSP00000494747.1:n.4954-28_4954-25delinsTGAG
ENST00000643426.1:n.2809-28_2809-25delinsTGAG
ENST00000643946.1:c.5086-28_5086-25delinsTGAG ENSP00000495927.1:n.5086-28_5086-25delinsTGAG
ENST00000644043.1:c.5032-28_5032-25delinsTGAG ENSP00000496262.1:n.5032-28_5032-25delinsTGAG
ENST00000644329.1:c.5019_5022delinsTGAG ENSP00000496611.1:p.Ser1673=
ENST00000644335.1:c.4957-28_4957-25delinsTGAG ENSP00000496317.1:n.4957-28_4957-25delinsTGAG
ENST00000644399.1:c.5082-28_5082-25delinsTGAG
ENST00000645024.1:n.3245-28_3245-25delinsTGAG
ENST00000646388.1:c.5155-28_5155-25delinsTGAG ENSP00000495921.1:n.5155-28_5155-25delinsTGAG
ENST00000646634.1:n.3976-28_3976-25delinsTGAG
ENST00000646674.1:n.2413-28_2413-25delinsTGAG
ENST00000647042.1:n.2384-28_2384-25delinsTGAG
ENST00000647180.1:n.2274-28_2274-25delinsTGAG
ENST00000219476.7:c.5161-28_5161-25delinsTGAG ENSP00000219476.3:n.5161-28_5161-25delinsTGAG
ENST00000350773.8:c.5092-28_5092-25delinsTGAG ENSP00000344383.4:n.5092-28_5092-25delinsTGAG
ENST00000382538.10:c.4816-28_4816-25delinsTGAG ENSP00000371978.6:n.4816-28_4816-25delinsTGAG
ENST00000401874.6:c.4960-28_4960-25delinsTGAG ENSP00000384468.2:n.4960-28_4960-25delinsTGAG
ENST00000439117.6:c.*4328-28_*4328-25delinsTGAG ENSP00000406980.2:n.*4328-28_*4328-25delinsTGAG
ENST00000439673.6:c.4852-28_4852-25delinsTGAG ENSP00000399232.2:n.4852-28_4852-25delinsTGAG
ENST00000497886.5:n.2884-28_2884-25delinsTGAG
ENST00000568454.5:c.4993-28_4993-25delinsTGAG ENSP00000454487.1:n.4993-28_4993-25delinsTGAG
ENST00000569110.1:c.1343-28_1343-25delinsTGAG
ENST00000569930.1:n.2276-28_2276-25delinsTGAG
NM_000548.3:c.5161-28_5161-25delinsTGAG , LRG_487t1:c.5161-28_5161-25delinsTGAG NP_000539.2:n.5161-28_5161-25delinsTGAG
NM_001077183.1:c.4960-28_4960-25delinsTGAG NP_001070651.1:n.4960-28_4960-25delinsTGAG
NM_001114382.1:c.5092-28_5092-25delinsTGAG NP_001107854.1:n.5092-28_5092-25delinsTGAG
XM_005255529.3:c.5032-28_5032-25delinsTGAG XP_005255586.2:n.5032-28_5032-25delinsTGAG
XM_005255531.3:c.4963-28_4963-25delinsTGAG XP_005255588.2:n.4963-28_4963-25delinsTGAG
XM_011522636.1:c.5215-28_5215-25delinsTGAG XP_011520938.1:n.5215-28_5215-25delinsTGAG
XM_011522637.1:c.5212-28_5212-25delinsTGAG XP_011520939.1:n.5212-28_5212-25delinsTGAG
XM_011522638.1:c.5104-28_5104-25delinsTGAG XP_011520940.1:n.5104-28_5104-25delinsTGAG
XM_011522639.1:c.5086-28_5086-25delinsTGAG XP_011520941.1:n.5086-28_5086-25delinsTGAG
XM_011522640.1:c.5083-28_5083-25delinsTGAG XP_011520942.1:n.5083-28_5083-25delinsTGAG
XM_011522641.1:c.4852-28_4852-25delinsTGAG XP_011520943.1:n.4852-28_4852-25delinsTGAG
NM_000548.4:c.5161-28_5161-25delinsTGAG NP_000539.2:n.5161-28_5161-25delinsTGAG
NM_001077183.2:c.4960-28_4960-25delinsTGAG NP_001070651.1:n.4960-28_4960-25delinsTGAG
NM_001114382.2:c.5092-28_5092-25delinsTGAG NP_001107854.1:n.5092-28_5092-25delinsTGAG
NM_001318827.1:c.4852-28_4852-25delinsTGAG NP_001305756.1:n.4852-28_4852-25delinsTGAG
NM_001318829.1:c.4816-28_4816-25delinsTGAG NP_001305758.1:n.4816-28_4816-25delinsTGAG
NM_001318831.1:c.4429-28_4429-25delinsTGAG NP_001305760.1:n.4429-28_4429-25delinsTGAG
NM_001318832.1:c.4993-28_4993-25delinsTGAG NP_001305761.1:n.4993-28_4993-25delinsTGAG
NM_001363528.1:c.4963-28_4963-25delinsTGAG NP_001350457.1:n.4963-28_4963-25delinsTGAG
NM_021055.2:c.5032-28_5032-25delinsTGAG NP_066399.2:n.5032-28_5032-25delinsTGAG
XM_005255531.4:c.4963-28_4963-25delinsTGAG XP_005255588.2:n.4963-28_4963-25delinsTGAG
XM_011522636.2:c.5215-28_5215-25delinsTGAG XP_011520938.1:n.5215-28_5215-25delinsTGAG
XM_011522637.2:c.5212-28_5212-25delinsTGAG XP_011520939.1:n.5212-28_5212-25delinsTGAG
XM_011522638.2:c.5377-28_5377-25delinsTGAG XP_011520940.2:n.5377-28_5377-25delinsTGAG
XM_011522639.2:c.5086-28_5086-25delinsTGAG XP_011520941.1:n.5086-28_5086-25delinsTGAG
XM_011522640.2:c.5083-28_5083-25delinsTGAG XP_011520942.1:n.5083-28_5083-25delinsTGAG
XM_017023615.1:c.5158-28_5158-25delinsTGAG XP_016879104.1:n.5158-28_5158-25delinsTGAG
XM_017023616.1:c.5029-28_5029-25delinsTGAG XP_016879105.1:n.5029-28_5029-25delinsTGAG
XM_017023617.1:c.5125-28_5125-25delinsTGAG XP_016879106.1:n.5125-28_5125-25delinsTGAG
XM_017023618.1:c.3871-28_3871-25delinsTGAG XP_016879107.1:n.3871-28_3871-25delinsTGAG
XM_024450413.1:c.5019_5022delinsTGAG XP_024306181.1:p.Ser1673=
NM_000548.5:c.5161-28_5161-25delinsTGAG MANE Select NP_000539.2:n.5161-28_5161-25delinsTGAG
NM_001370404.1:c.5029-28_5029-25delinsTGAG NP_001357333.1:n.5029-28_5029-25delinsTGAG
NM_001370405.1:c.5032-40_5032-37delinsTGAG NP_001357334.1:n.5032-40_5032-37delinsTGAG
NM_001077183.3:c.4960-28_4960-25delinsTGAG NP_001070651.1:n.4960-28_4960-25delinsTGAG
NM_001114382.3:c.5092-28_5092-25delinsTGAG NP_001107854.1:n.5092-28_5092-25delinsTGAG
NM_001318827.2:c.4852-28_4852-25delinsTGAG NP_001305756.1:n.4852-28_4852-25delinsTGAG
NM_001318829.2:c.4816-28_4816-25delinsTGAG NP_001305758.1:n.4816-28_4816-25delinsTGAG
NM_001318831.2:c.4429-28_4429-25delinsTGAG NP_001305760.1:n.4429-28_4429-25delinsTGAG
NM_001318832.2:c.4993-28_4993-25delinsTGAG NP_001305761.1:n.4993-28_4993-25delinsTGAG
NM_001363528.2:c.4963-28_4963-25delinsTGAG NP_001350457.1:n.4963-28_4963-25delinsTGAG
NM_021055.3:c.5032-28_5032-25delinsTGAG NP_066399.2:n.5032-28_5032-25delinsTGAG
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Search 100 bp 3'