Canonical Allele Identifier: CA2202044645
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084493_2084558delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC , CM000678.2:g.2084493_2084558delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC GRCh38
NC_000016.9:g.2134494_2134559delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC , CM000678.1:g.2134494_2134559delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC GRCh37
NC_000016.8:g.2074495_2074560delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NCBI36
NG_005895.1:g.40188_40253delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC , LRG_487:g.40188_40253delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2620_*2685delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000455997.2:n.*2620_*2685delinsACGGGGAAAGTGCTGCCTGGTCGG...
ENST00000642206.2:c.4118_4183delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000495146.2:p.Asp1373=
ENST00000642365.2:c.4268_4333delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000495459.2:p.Asp1423=
ENST00000644417.2:c.*4651_*4716delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000493912.2:n.*4651_*4716delinsACGGGGAAAGTGCTGCCTGGTCGG...
ENST00000646464.2:c.*7020_*7085delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000496610.2:n.*7020_*7085delinsACGGGGAAAGTGCTGCCTGGTCGG...
ENST00000219476.9:c.4271_4336delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC MANE Select ENSP00000219476.3:p.Asp1424=
ENST00000350773.9:c.4202_4267delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000344383.4:p.Asp1401=
ENST00000401874.7:c.4070_4135delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000384468.2:p.Asp1357=
ENST00000568454.6:c.4103_4168delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000454487.1:p.Asp1368=
ENST00000569110.2:c.507_572delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
ENST00000569930.2:n.2153_2218delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
ENST00000642365.1:c.2925_2990delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
ENST00000642561.1:c.4142_4207delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000495099.1:p.Asp1381=
ENST00000642728.1:n.453_518delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
ENST00000642797.1:c.4073_4138delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000493846.1:p.Asp1358=
ENST00000642936.1:c.4139_4204delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000494514.1:p.Asp1380=
ENST00000643088.1:c.4070_4135delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000494747.1:p.Asp1357=
ENST00000643177.1:n.285_350delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
ENST00000643426.1:n.1919_1984delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
ENST00000643946.1:c.4202_4267delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000495927.1:p.Asp1401=
ENST00000644043.1:c.4142_4207delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000496262.1:p.Asp1381=
ENST00000644329.1:c.4070_4135delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000496611.1:p.Asp1357=
ENST00000644335.1:c.4073_4138delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000496317.1:p.Asp1358=
ENST00000644399.1:c.4192_4257delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
ENST00000645024.1:n.2355_2420delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
ENST00000646388.1:c.4271_4336delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000495921.1:p.Asp1424=
ENST00000646634.1:n.3086_3151delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
ENST00000646674.1:n.1523_1588delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
ENST00000647042.1:n.1494_1559delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
ENST00000647180.1:n.1384_1449delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
ENST00000219476.7:c.4271_4336delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000219476.3:p.Asp1424=
ENST00000350773.8:c.4202_4267delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000344383.4:p.Asp1401=
ENST00000382538.10:c.3926_3991delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000371978.6:p.Asp1309=
ENST00000401874.6:c.4070_4135delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000384468.2:p.Asp1357=
ENST00000439117.6:c.*3438_*3503delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000406980.2:n.*3438_*3503delinsACGGGGAAAGTGCTGCCTGGTCGG...
ENST00000439673.6:c.3962_4027delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000399232.2:p.Asp1321=
ENST00000497886.5:n.2029_2094delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
ENST00000568454.5:c.4103_4168delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC ENSP00000454487.1:p.Asp1368=
ENST00000569110.1:c.453_518delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
ENST00000569930.1:n.1386_1451delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC
NM_000548.3:c.4271_4336delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC , LRG_487t1:c.4271_4336delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_000539.2:p.Asp1424=
NM_001077183.1:c.4070_4135delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001070651.1:p.Asp1357=
NM_001114382.1:c.4202_4267delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001107854.1:p.Asp1401=
XM_005255529.3:c.4142_4207delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_005255586.2:p.Asp1381=
XM_005255531.3:c.4073_4138delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_005255588.2:p.Asp1358=
XM_011522636.1:c.4325_4390delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_011520938.1:p.Asp1442=
XM_011522637.1:c.4322_4387delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_011520939.1:p.Asp1441=
XM_011522638.1:c.4214_4279delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_011520940.1:p.Asp1405=
XM_011522639.1:c.4196_4261delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_011520941.1:p.Asp1399=
XM_011522640.1:c.4193_4258delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_011520942.1:p.Asp1398=
XM_011522641.1:c.3962_4027delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_011520943.1:p.Asp1321=
NM_000548.4:c.4271_4336delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_000539.2:p.Asp1424=
NM_001077183.2:c.4070_4135delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001070651.1:p.Asp1357=
NM_001114382.2:c.4202_4267delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001107854.1:p.Asp1401=
NM_001318827.1:c.3962_4027delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001305756.1:p.Asp1321=
NM_001318829.1:c.3926_3991delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001305758.1:p.Asp1309=
NM_001318831.1:c.3539_3604delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001305760.1:p.Asp1180=
NM_001318832.1:c.4103_4168delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001305761.1:p.Asp1368=
NM_001363528.1:c.4073_4138delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001350457.1:p.Asp1358=
NM_021055.2:c.4142_4207delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_066399.2:p.Asp1381=
XM_005255531.4:c.4073_4138delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_005255588.2:p.Asp1358=
XM_011522636.2:c.4325_4390delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_011520938.1:p.Asp1442=
XM_011522637.2:c.4322_4387delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_011520939.1:p.Asp1441=
XM_011522638.2:c.4487_4552delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_011520940.2:p.Asp1496=
XM_011522639.2:c.4196_4261delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_011520941.1:p.Asp1399=
XM_011522640.2:c.4193_4258delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_011520942.1:p.Asp1398=
XM_017023615.1:c.4268_4333delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_016879104.1:p.Asp1423=
XM_017023616.1:c.4139_4204delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_016879105.1:p.Asp1380=
XM_017023617.1:c.4235_4300delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_016879106.1:p.Asp1412=
XM_017023618.1:c.2981_3046delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_016879107.1:p.Asp994=
XM_024450413.1:c.4070_4135delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC XP_024306181.1:p.Asp1357=
NM_000548.5:c.4271_4336delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC MANE Select NP_000539.2:p.Asp1424=
NM_001370404.1:c.4139_4204delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001357333.1:p.Asp1380=
NM_001370405.1:c.4142_4207delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001357334.1:p.Asp1381=
NM_001077183.3:c.4070_4135delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001070651.1:p.Asp1357=
NM_001114382.3:c.4202_4267delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001107854.1:p.Asp1401=
NM_001318827.2:c.3962_4027delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001305756.1:p.Asp1321=
NM_001318829.2:c.3926_3991delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001305758.1:p.Asp1309=
NM_001318831.2:c.3539_3604delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001305760.1:p.Asp1180=
NM_001318832.2:c.4103_4168delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001305761.1:p.Asp1368=
NM_001363528.2:c.4073_4138delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_001350457.1:p.Asp1358=
NM_021055.3:c.4142_4207delinsACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGC NP_066399.2:p.Asp1381=