Canonical Allele Identifier: CA2202032849
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088351_2088380delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC , CM000678.2:g.2088351_2088380delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC GRCh38
NC_000016.9:g.2138352_2138381delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC , CM000678.1:g.2138352_2138381delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC GRCh37
NC_000016.8:g.2078353_2078382delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NCBI36
NG_005895.1:g.44046_44075delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC , LRG_487:g.44046_44075delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
NG_008617.1:g.54841_54870delinsGCCCCACAGCTTGGGCAGCCAGCACACCCC

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*3608+26_*3608+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000455997.2:n.*3608+26_*3608+55deli...
ENST00000642206.2:c.5106+26_5106+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000495146.2:n.5106+26_5106+55delins...
ENST00000642365.2:c.5256+26_5256+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000495459.2:n.5256+26_5256+55delins...
ENST00000644417.2:c.*5772+26_*5772+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000493912.2:n.*5772+26_*5772+55deli...
ENST00000646464.2:c.*8008+26_*8008+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000496610.2:n.*8008+26_*8008+55deli...
ENST00000219476.9:c.5259+26_5259+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC MANE Select ENSP00000219476.3:n.5259+26_5259+55delins...
ENST00000350773.9:c.5190+26_5190+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000344383.4:n.5190+26_5190+55delins...
ENST00000401874.7:c.5058+26_5058+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000384468.2:n.5058+26_5058+55delins...
ENST00000568454.6:c.5091+26_5091+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000454487.1:n.5091+26_5091+55delins...
ENST00000569110.2:c.1482+26_1482+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
ENST00000569930.2:n.3141+26_3141+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
ENST00000642365.1:c.3913+26_3913+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
ENST00000642561.1:c.5118+26_5118+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000495099.1:n.5118+26_5118+55delins...
ENST00000642791.1:n.856+26_856+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
ENST00000642797.1:c.5061+26_5061+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000493846.1:n.5061+26_5061+55delins...
ENST00000642936.1:c.5127+26_5127+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000494514.1:n.5127+26_5127+55delins...
ENST00000643088.1:c.5052+26_5052+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000494747.1:n.5052+26_5052+55delins...
ENST00000643426.1:n.2907+26_2907+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
ENST00000643946.1:c.5184+26_5184+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000495927.1:n.5184+26_5184+55delins...
ENST00000644043.1:c.5130+26_5130+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000496262.1:n.5130+26_5130+55delins...
ENST00000644329.1:c.5145+26_5145+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000496611.1:n.5145+26_5145+55delins...
ENST00000644335.1:c.5055+26_5055+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000496317.1:n.5055+26_5055+55delins...
ENST00000644399.1:c.5180+26_5180+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
ENST00000645024.1:n.3343+26_3343+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
ENST00000646388.1:c.5253+26_5253+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000495921.1:n.5253+26_5253+55delins...
ENST00000646634.1:n.4074+26_4074+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
ENST00000646674.1:n.2511+26_2511+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
ENST00000647042.1:n.2482+26_2482+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
ENST00000647180.1:n.2372+26_2372+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
ENST00000219476.7:c.5259+26_5259+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000219476.3:n.5259+26_5259+55delins...
ENST00000350773.8:c.5190+26_5190+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000344383.4:n.5190+26_5190+55delins...
ENST00000382538.10:c.4914+26_4914+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000371978.6:n.4914+26_4914+55delins...
ENST00000401874.6:c.5058+26_5058+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000384468.2:n.5058+26_5058+55delins...
ENST00000439117.6:c.*4426+26_*4426+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000406980.2:n.*4426+26_*4426+55deli...
ENST00000439673.6:c.4950+26_4950+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000399232.2:n.4950+26_4950+55delins...
ENST00000497886.5:n.2982+26_2982+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
ENST00000568454.5:c.5091+26_5091+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC ENSP00000454487.1:n.5091+26_5091+55delins...
ENST00000569110.1:c.1441+26_1441+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
ENST00000569930.1:n.2374+26_2374+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC
NM_000548.3:c.5259+26_5259+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC , LRG_487t1:c.5259+26_5259+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_000539.2:n.5259+26_5259+55delinsGGGGTG...
NM_001077183.1:c.5058+26_5058+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001070651.1:n.5058+26_5058+55delinsGGG...
NM_001114382.1:c.5190+26_5190+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001107854.1:n.5190+26_5190+55delinsGGG...
XM_005255529.3:c.5130+26_5130+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_005255586.2:n.5130+26_5130+55delinsGGG...
XM_005255531.3:c.5061+26_5061+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_005255588.2:n.5061+26_5061+55delinsGGG...
XM_011522636.1:c.5313+26_5313+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_011520938.1:n.5313+26_5313+55delinsGGG...
XM_011522637.1:c.5310+26_5310+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_011520939.1:n.5310+26_5310+55delinsGGG...
XM_011522638.1:c.5202+26_5202+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_011520940.1:n.5202+26_5202+55delinsGGG...
XM_011522639.1:c.5184+26_5184+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_011520941.1:n.5184+26_5184+55delinsGGG...
XM_011522640.1:c.5181+26_5181+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_011520942.1:n.5181+26_5181+55delinsGGG...
XM_011522641.1:c.4950+26_4950+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_011520943.1:n.4950+26_4950+55delinsGGG...
NM_000548.4:c.5259+26_5259+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_000539.2:n.5259+26_5259+55delinsGGGGTG...
NM_001077183.2:c.5058+26_5058+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001070651.1:n.5058+26_5058+55delinsGGG...
NM_001114382.2:c.5190+26_5190+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001107854.1:n.5190+26_5190+55delinsGGG...
NM_001318827.1:c.4950+26_4950+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001305756.1:n.4950+26_4950+55delinsGGG...
NM_001318829.1:c.4914+26_4914+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001305758.1:n.4914+26_4914+55delinsGGG...
NM_001318831.1:c.4527+26_4527+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001305760.1:n.4527+26_4527+55delinsGGG...
NM_001318832.1:c.5091+26_5091+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001305761.1:n.5091+26_5091+55delinsGGG...
NM_001363528.1:c.5061+26_5061+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001350457.1:n.5061+26_5061+55delinsGGG...
NM_021055.2:c.5130+26_5130+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_066399.2:n.5130+26_5130+55delinsGGGGTG...
XM_005255531.4:c.5061+26_5061+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_005255588.2:n.5061+26_5061+55delinsGGG...
XM_011522636.2:c.5313+26_5313+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_011520938.1:n.5313+26_5313+55delinsGGG...
XM_011522637.2:c.5310+26_5310+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_011520939.1:n.5310+26_5310+55delinsGGG...
XM_011522638.2:c.5475+26_5475+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_011520940.2:n.5475+26_5475+55delinsGGG...
XM_011522639.2:c.5184+26_5184+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_011520941.1:n.5184+26_5184+55delinsGGG...
XM_011522640.2:c.5181+26_5181+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_011520942.1:n.5181+26_5181+55delinsGGG...
XM_017023615.1:c.5256+26_5256+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_016879104.1:n.5256+26_5256+55delinsGGG...
XM_017023616.1:c.5127+26_5127+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_016879105.1:n.5127+26_5127+55delinsGGG...
XM_017023617.1:c.5223+26_5223+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_016879106.1:n.5223+26_5223+55delinsGGG...
XM_017023618.1:c.3969+26_3969+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_016879107.1:n.3969+26_3969+55delinsGGG...
XM_024450413.1:c.5145+26_5145+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC XP_024306181.1:n.5145+26_5145+55delinsGGG...
NM_000548.5:c.5259+26_5259+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC MANE Select NP_000539.2:n.5259+26_5259+55delinsGGGGTG...
NM_001370404.1:c.5127+26_5127+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001357333.1:n.5127+26_5127+55delinsGGG...
NM_001370405.1:c.5118+26_5118+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001357334.1:n.5118+26_5118+55delinsGGG...
NM_001077183.3:c.5058+26_5058+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001070651.1:n.5058+26_5058+55delinsGGG...
NM_001114382.3:c.5190+26_5190+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001107854.1:n.5190+26_5190+55delinsGGG...
NM_001318827.2:c.4950+26_4950+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001305756.1:n.4950+26_4950+55delinsGGG...
NM_001318829.2:c.4914+26_4914+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001305758.1:n.4914+26_4914+55delinsGGG...
NM_001318831.2:c.4527+26_4527+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001305760.1:n.4527+26_4527+55delinsGGG...
NM_001318832.2:c.5091+26_5091+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001305761.1:n.5091+26_5091+55delinsGGG...
NM_001363528.2:c.5061+26_5061+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_001350457.1:n.5061+26_5061+55delinsGGG...
NM_021055.3:c.5130+26_5130+55delinsGGGGTGTGCTGGCTGCCCAAGCTGTGGGGC NP_066399.2:n.5130+26_5130+55delinsGGGGTG...