Canonical Allele Identifier: CA2202018222
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084998_2084999delinsCA , CM000678.2:g.2084998_2084999delinsCA GRCh38
NC_000016.9:g.2134999_2135000delinsCA , CM000678.1:g.2134999_2135000delinsCA GRCh37
NC_000016.8:g.2075000_2075001delinsCA NCBI36
NG_005895.1:g.40693_40694delinsCA , LRG_487:g.40693_40694delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2890_*2891delinsCA ENSP00000455997.2:n.*2890_*2891delinsCA
ENST00000642206.2:c.4388_4389delinsCA ENSP00000495146.2:p.Ser1463=
ENST00000642365.2:c.4538_4539delinsCA ENSP00000495459.2:p.Ser1513=
ENST00000644417.2:c.*4921_*4922delinsCA ENSP00000493912.2:n.*4921_*4922delinsCA
ENST00000646464.2:c.*7290_*7291delinsCA ENSP00000496610.2:n.*7290_*7291delinsCA
ENST00000219476.9:c.4541_4542delinsCA MANE Select ENSP00000219476.3:p.Ser1514=
ENST00000350773.9:c.4472_4473delinsCA ENSP00000344383.4:p.Ser1491=
ENST00000401874.7:c.4340_4341delinsCA ENSP00000384468.2:p.Ser1447=
ENST00000568454.6:c.4373_4374delinsCA ENSP00000454487.1:p.Ser1458=
ENST00000569110.2:c.764_765delinsCA
ENST00000569930.2:n.2423_2424delinsCA
ENST00000642365.1:c.3195_3196delinsCA
ENST00000642561.1:c.4412_4413delinsCA ENSP00000495099.1:p.Ser1471=
ENST00000642728.1:n.723_724delinsCA
ENST00000642797.1:c.4343_4344delinsCA ENSP00000493846.1:p.Ser1448=
ENST00000642936.1:c.4409_4410delinsCA ENSP00000494514.1:p.Ser1470=
ENST00000643088.1:c.4340_4341delinsCA ENSP00000494747.1:p.Ser1447=
ENST00000643177.1:n.555_556delinsCA
ENST00000643426.1:n.2189_2190delinsCA
ENST00000643946.1:c.4472_4473delinsCA ENSP00000495927.1:p.Ser1491=
ENST00000644043.1:c.4412_4413delinsCA ENSP00000496262.1:p.Ser1471=
ENST00000644329.1:c.4340_4341delinsCA ENSP00000496611.1:p.Ser1447=
ENST00000644335.1:c.4343_4344delinsCA ENSP00000496317.1:p.Ser1448=
ENST00000644399.1:c.4462_4463delinsCA
ENST00000645024.1:n.2625_2626delinsCA
ENST00000646388.1:c.4541_4542delinsCA ENSP00000495921.1:p.Ser1514=
ENST00000646634.1:n.3356_3357delinsCA
ENST00000646674.1:n.1793_1794delinsCA
ENST00000647042.1:n.1764_1765delinsCA
ENST00000647180.1:n.1654_1655delinsCA
ENST00000219476.7:c.4541_4542delinsCA ENSP00000219476.3:p.Ser1514=
ENST00000350773.8:c.4472_4473delinsCA ENSP00000344383.4:p.Ser1491=
ENST00000382538.10:c.4196_4197delinsCA ENSP00000371978.6:p.Ser1399=
ENST00000401874.6:c.4340_4341delinsCA ENSP00000384468.2:p.Ser1447=
ENST00000439117.6:c.*3708_*3709delinsCA ENSP00000406980.2:n.*3708_*3709delinsCA
ENST00000439673.6:c.4232_4233delinsCA ENSP00000399232.2:p.Ser1411=
ENST00000497886.5:n.2299_2300delinsCA
ENST00000568454.5:c.4373_4374delinsCA ENSP00000454487.1:p.Ser1458=
ENST00000569110.1:c.723_724delinsCA
ENST00000569930.1:n.1656_1657delinsCA
NM_000548.3:c.4541_4542delinsCA , LRG_487t1:c.4541_4542delinsCA NP_000539.2:p.Ser1514=
NM_001077183.1:c.4340_4341delinsCA NP_001070651.1:p.Ser1447=
NM_001114382.1:c.4472_4473delinsCA NP_001107854.1:p.Ser1491=
XM_005255529.3:c.4412_4413delinsCA XP_005255586.2:p.Ser1471=
XM_005255531.3:c.4343_4344delinsCA XP_005255588.2:p.Ser1448=
XM_011522636.1:c.4595_4596delinsCA XP_011520938.1:p.Ser1532=
XM_011522637.1:c.4592_4593delinsCA XP_011520939.1:p.Ser1531=
XM_011522638.1:c.4484_4485delinsCA XP_011520940.1:p.Ser1495=
XM_011522639.1:c.4466_4467delinsCA XP_011520941.1:p.Ser1489=
XM_011522640.1:c.4463_4464delinsCA XP_011520942.1:p.Ser1488=
XM_011522641.1:c.4232_4233delinsCA XP_011520943.1:p.Ser1411=
NM_000548.4:c.4541_4542delinsCA NP_000539.2:p.Ser1514=
NM_001077183.2:c.4340_4341delinsCA NP_001070651.1:p.Ser1447=
NM_001114382.2:c.4472_4473delinsCA NP_001107854.1:p.Ser1491=
NM_001318827.1:c.4232_4233delinsCA NP_001305756.1:p.Ser1411=
NM_001318829.1:c.4196_4197delinsCA NP_001305758.1:p.Ser1399=
NM_001318831.1:c.3809_3810delinsCA NP_001305760.1:p.Ser1270=
NM_001318832.1:c.4373_4374delinsCA NP_001305761.1:p.Ser1458=
NM_001363528.1:c.4343_4344delinsCA NP_001350457.1:p.Ser1448=
NM_021055.2:c.4412_4413delinsCA NP_066399.2:p.Ser1471=
XM_005255531.4:c.4343_4344delinsCA XP_005255588.2:p.Ser1448=
XM_011522636.2:c.4595_4596delinsCA XP_011520938.1:p.Ser1532=
XM_011522637.2:c.4592_4593delinsCA XP_011520939.1:p.Ser1531=
XM_011522638.2:c.4757_4758delinsCA XP_011520940.2:p.Ser1586=
XM_011522639.2:c.4466_4467delinsCA XP_011520941.1:p.Ser1489=
XM_011522640.2:c.4463_4464delinsCA XP_011520942.1:p.Ser1488=
XM_017023615.1:c.4538_4539delinsCA XP_016879104.1:p.Ser1513=
XM_017023616.1:c.4409_4410delinsCA XP_016879105.1:p.Ser1470=
XM_017023617.1:c.4505_4506delinsCA XP_016879106.1:p.Ser1502=
XM_017023618.1:c.3251_3252delinsCA XP_016879107.1:p.Ser1084=
XM_024450413.1:c.4340_4341delinsCA XP_024306181.1:p.Ser1447=
NM_000548.5:c.4541_4542delinsCA MANE Select NP_000539.2:p.Ser1514=
NM_001370404.1:c.4409_4410delinsCA NP_001357333.1:p.Ser1470=
NM_001370405.1:c.4412_4413delinsCA NP_001357334.1:p.Ser1471=
NM_001077183.3:c.4340_4341delinsCA NP_001070651.1:p.Ser1447=
NM_001114382.3:c.4472_4473delinsCA NP_001107854.1:p.Ser1491=
NM_001318827.2:c.4232_4233delinsCA NP_001305756.1:p.Ser1411=
NM_001318829.2:c.4196_4197delinsCA NP_001305758.1:p.Ser1399=
NM_001318831.2:c.3809_3810delinsCA NP_001305760.1:p.Ser1270=
NM_001318832.2:c.4373_4374delinsCA NP_001305761.1:p.Ser1458=
NM_001363528.2:c.4343_4344delinsCA NP_001350457.1:p.Ser1448=
NM_021055.3:c.4412_4413delinsCA NP_066399.2:p.Ser1471=