Canonical Allele Identifier: CA2202018187
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084993_2084994delinsCG , CM000678.2:g.2084993_2084994delinsCG GRCh38
NC_000016.9:g.2134994_2134995delinsCG , CM000678.1:g.2134994_2134995delinsCG GRCh37
NC_000016.8:g.2074995_2074996delinsCG NCBI36
NG_005895.1:g.40688_40689delinsCG , LRG_487:g.40688_40689delinsCG

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2885_*2886delinsCG ENSP00000455997.2:n.*2885_*2886delinsCG
ENST00000642206.2:c.4383_4384delinsCG ENSP00000495146.2:p.Asp1461=
ENST00000642365.2:c.4533_4534delinsCG ENSP00000495459.2:p.Asp1511=
ENST00000644417.2:c.*4916_*4917delinsCG ENSP00000493912.2:n.*4916_*4917delinsCG
ENST00000646464.2:c.*7285_*7286delinsCG ENSP00000496610.2:n.*7285_*7286delinsCG
ENST00000219476.9:c.4536_4537delinsCG MANE Select ENSP00000219476.3:p.Asp1512=
ENST00000350773.9:c.4467_4468delinsCG ENSP00000344383.4:p.Asp1489=
ENST00000401874.7:c.4335_4336delinsCG ENSP00000384468.2:p.Asp1445=
ENST00000568454.6:c.4368_4369delinsCG ENSP00000454487.1:p.Asp1456=
ENST00000569110.2:c.759_760delinsCG
ENST00000569930.2:n.2418_2419delinsCG
ENST00000642365.1:c.3190_3191delinsCG
ENST00000642561.1:c.4407_4408delinsCG ENSP00000495099.1:p.Asp1469=
ENST00000642728.1:n.718_719delinsCG
ENST00000642797.1:c.4338_4339delinsCG ENSP00000493846.1:p.Asp1446=
ENST00000642936.1:c.4404_4405delinsCG ENSP00000494514.1:p.Asp1468=
ENST00000643088.1:c.4335_4336delinsCG ENSP00000494747.1:p.Asp1445=
ENST00000643177.1:n.550_551delinsCG
ENST00000643426.1:n.2184_2185delinsCG
ENST00000643946.1:c.4467_4468delinsCG ENSP00000495927.1:p.Asp1489=
ENST00000644043.1:c.4407_4408delinsCG ENSP00000496262.1:p.Asp1469=
ENST00000644329.1:c.4335_4336delinsCG ENSP00000496611.1:p.Asp1445=
ENST00000644335.1:c.4338_4339delinsCG ENSP00000496317.1:p.Asp1446=
ENST00000644399.1:c.4457_4458delinsCG
ENST00000645024.1:n.2620_2621delinsCG
ENST00000646388.1:c.4536_4537delinsCG ENSP00000495921.1:p.Asp1512=
ENST00000646634.1:n.3351_3352delinsCG
ENST00000646674.1:n.1788_1789delinsCG
ENST00000647042.1:n.1759_1760delinsCG
ENST00000647180.1:n.1649_1650delinsCG
ENST00000219476.7:c.4536_4537delinsCG ENSP00000219476.3:p.Asp1512=
ENST00000350773.8:c.4467_4468delinsCG ENSP00000344383.4:p.Asp1489=
ENST00000382538.10:c.4191_4192delinsCG ENSP00000371978.6:p.Asp1397=
ENST00000401874.6:c.4335_4336delinsCG ENSP00000384468.2:p.Asp1445=
ENST00000439117.6:c.*3703_*3704delinsCG ENSP00000406980.2:n.*3703_*3704delinsCG
ENST00000439673.6:c.4227_4228delinsCG ENSP00000399232.2:p.Asp1409=
ENST00000497886.5:n.2294_2295delinsCG
ENST00000568454.5:c.4368_4369delinsCG ENSP00000454487.1:p.Asp1456=
ENST00000569110.1:c.718_719delinsCG
ENST00000569930.1:n.1651_1652delinsCG
NM_000548.3:c.4536_4537delinsCG , LRG_487t1:c.4536_4537delinsCG NP_000539.2:p.Asp1512=
NM_001077183.1:c.4335_4336delinsCG NP_001070651.1:p.Asp1445=
NM_001114382.1:c.4467_4468delinsCG NP_001107854.1:p.Asp1489=
XM_005255529.3:c.4407_4408delinsCG XP_005255586.2:p.Asp1469=
XM_005255531.3:c.4338_4339delinsCG XP_005255588.2:p.Asp1446=
XM_011522636.1:c.4590_4591delinsCG XP_011520938.1:p.Asp1530=
XM_011522637.1:c.4587_4588delinsCG XP_011520939.1:p.Asp1529=
XM_011522638.1:c.4479_4480delinsCG XP_011520940.1:p.Asp1493=
XM_011522639.1:c.4461_4462delinsCG XP_011520941.1:p.Asp1487=
XM_011522640.1:c.4458_4459delinsCG XP_011520942.1:p.Asp1486=
XM_011522641.1:c.4227_4228delinsCG XP_011520943.1:p.Asp1409=
NM_000548.4:c.4536_4537delinsCG NP_000539.2:p.Asp1512=
NM_001077183.2:c.4335_4336delinsCG NP_001070651.1:p.Asp1445=
NM_001114382.2:c.4467_4468delinsCG NP_001107854.1:p.Asp1489=
NM_001318827.1:c.4227_4228delinsCG NP_001305756.1:p.Asp1409=
NM_001318829.1:c.4191_4192delinsCG NP_001305758.1:p.Asp1397=
NM_001318831.1:c.3804_3805delinsCG NP_001305760.1:p.Asp1268=
NM_001318832.1:c.4368_4369delinsCG NP_001305761.1:p.Asp1456=
NM_001363528.1:c.4338_4339delinsCG NP_001350457.1:p.Asp1446=
NM_021055.2:c.4407_4408delinsCG NP_066399.2:p.Asp1469=
XM_005255531.4:c.4338_4339delinsCG XP_005255588.2:p.Asp1446=
XM_011522636.2:c.4590_4591delinsCG XP_011520938.1:p.Asp1530=
XM_011522637.2:c.4587_4588delinsCG XP_011520939.1:p.Asp1529=
XM_011522638.2:c.4752_4753delinsCG XP_011520940.2:p.Asp1584=
XM_011522639.2:c.4461_4462delinsCG XP_011520941.1:p.Asp1487=
XM_011522640.2:c.4458_4459delinsCG XP_011520942.1:p.Asp1486=
XM_017023615.1:c.4533_4534delinsCG XP_016879104.1:p.Asp1511=
XM_017023616.1:c.4404_4405delinsCG XP_016879105.1:p.Asp1468=
XM_017023617.1:c.4500_4501delinsCG XP_016879106.1:p.Asp1500=
XM_017023618.1:c.3246_3247delinsCG XP_016879107.1:p.Asp1082=
XM_024450413.1:c.4335_4336delinsCG XP_024306181.1:p.Asp1445=
NM_000548.5:c.4536_4537delinsCG MANE Select NP_000539.2:p.Asp1512=
NM_001370404.1:c.4404_4405delinsCG NP_001357333.1:p.Asp1468=
NM_001370405.1:c.4407_4408delinsCG NP_001357334.1:p.Asp1469=
NM_001077183.3:c.4335_4336delinsCG NP_001070651.1:p.Asp1445=
NM_001114382.3:c.4467_4468delinsCG NP_001107854.1:p.Asp1489=
NM_001318827.2:c.4227_4228delinsCG NP_001305756.1:p.Asp1409=
NM_001318829.2:c.4191_4192delinsCG NP_001305758.1:p.Asp1397=
NM_001318831.2:c.3804_3805delinsCG NP_001305760.1:p.Asp1268=
NM_001318832.2:c.4368_4369delinsCG NP_001305761.1:p.Asp1456=
NM_001363528.2:c.4338_4339delinsCG NP_001350457.1:p.Asp1446=
NM_021055.3:c.4407_4408delinsCG NP_066399.2:p.Asp1469=