Canonical Allele Identifier: CA2202019164
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085249_2085250delinsCG , CM000678.2:g.2085249_2085250delinsCG GRCh38
NC_000016.9:g.2135250_2135251delinsCG , CM000678.1:g.2135250_2135251delinsCG GRCh37
NC_000016.8:g.2075251_2075252delinsCG NCBI36
NG_005895.1:g.40944_40945delinsCG , LRG_487:g.40944_40945delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2938_*2939delinsCG ENSP00000455997.2:n.*2938_*2939delinsCG
ENST00000642206.2:c.4436_4437delinsCG ENSP00000495146.2:p.Ser1479=
ENST00000642365.2:c.4586_4587delinsCG ENSP00000495459.2:p.Ser1529=
ENST00000644417.2:c.*4969_*4970delinsCG ENSP00000493912.2:n.*4969_*4970delinsCG
ENST00000646464.2:c.*7338_*7339delinsCG ENSP00000496610.2:n.*7338_*7339delinsCG
ENST00000219476.9:c.4589_4590delinsCG MANE Select ENSP00000219476.3:p.Ser1530=
ENST00000350773.9:c.4520_4521delinsCG ENSP00000344383.4:p.Ser1507=
ENST00000401874.7:c.4388_4389delinsCG ENSP00000384468.2:p.Ser1463=
ENST00000568454.6:c.4421_4422delinsCG ENSP00000454487.1:p.Ser1474=
ENST00000569110.2:c.812_813delinsCG
ENST00000569930.2:n.2471_2472delinsCG
ENST00000642365.1:c.3243_3244delinsCG
ENST00000642561.1:c.4460_4461delinsCG ENSP00000495099.1:p.Ser1487=
ENST00000642728.1:n.771_772delinsCG
ENST00000642791.1:n.186_187delinsCG
ENST00000642797.1:c.4391_4392delinsCG ENSP00000493846.1:p.Ser1464=
ENST00000642936.1:c.4457_4458delinsCG ENSP00000494514.1:p.Ser1486=
ENST00000643088.1:c.4382_4383delinsCG ENSP00000494747.1:p.Ser1461=
ENST00000643177.1:n.603_604delinsCG
ENST00000643426.1:n.2237_2238delinsCG
ENST00000643946.1:c.4514_4515delinsCG ENSP00000495927.1:p.Ser1505=
ENST00000644043.1:c.4460_4461delinsCG ENSP00000496262.1:p.Ser1487=
ENST00000644278.1:n.71_72delinsCG
ENST00000644329.1:c.4388_4389delinsCG ENSP00000496611.1:p.Ser1463=
ENST00000644335.1:c.4385_4386delinsCG ENSP00000496317.1:p.Ser1462=
ENST00000644399.1:c.4510_4511delinsCG
ENST00000645024.1:n.2673_2674delinsCG
ENST00000646388.1:c.4583_4584delinsCG ENSP00000495921.1:p.Ser1528=
ENST00000646634.1:n.3404_3405delinsCG
ENST00000646674.1:n.1841_1842delinsCG
ENST00000647042.1:n.1812_1813delinsCG
ENST00000647180.1:n.1702_1703delinsCG
ENST00000219476.7:c.4589_4590delinsCG ENSP00000219476.3:p.Ser1530=
ENST00000350773.8:c.4520_4521delinsCG ENSP00000344383.4:p.Ser1507=
ENST00000382538.10:c.4244_4245delinsCG ENSP00000371978.6:p.Ser1415=
ENST00000401874.6:c.4388_4389delinsCG ENSP00000384468.2:p.Ser1463=
ENST00000439117.6:c.*3756_*3757delinsCG ENSP00000406980.2:n.*3756_*3757delinsCG
ENST00000439673.6:c.4280_4281delinsCG ENSP00000399232.2:p.Ser1427=
ENST00000497886.5:n.2347_2348delinsCG
ENST00000568454.5:c.4421_4422delinsCG ENSP00000454487.1:p.Ser1474=
ENST00000569110.1:c.771_772delinsCG
ENST00000569930.1:n.1704_1705delinsCG
NM_000548.3:c.4589_4590delinsCG , LRG_487t1:c.4589_4590delinsCG NP_000539.2:p.Ser1530=
NM_001077183.1:c.4388_4389delinsCG NP_001070651.1:p.Ser1463=
NM_001114382.1:c.4520_4521delinsCG NP_001107854.1:p.Ser1507=
XM_005255529.3:c.4460_4461delinsCG XP_005255586.2:p.Ser1487=
XM_005255531.3:c.4391_4392delinsCG XP_005255588.2:p.Ser1464=
XM_011522636.1:c.4643_4644delinsCG XP_011520938.1:p.Ser1548=
XM_011522637.1:c.4640_4641delinsCG XP_011520939.1:p.Ser1547=
XM_011522638.1:c.4532_4533delinsCG XP_011520940.1:p.Ser1511=
XM_011522639.1:c.4514_4515delinsCG XP_011520941.1:p.Ser1505=
XM_011522640.1:c.4511_4512delinsCG XP_011520942.1:p.Ser1504=
XM_011522641.1:c.4280_4281delinsCG XP_011520943.1:p.Ser1427=
NM_000548.4:c.4589_4590delinsCG NP_000539.2:p.Ser1530=
NM_001077183.2:c.4388_4389delinsCG NP_001070651.1:p.Ser1463=
NM_001114382.2:c.4520_4521delinsCG NP_001107854.1:p.Ser1507=
NM_001318827.1:c.4280_4281delinsCG NP_001305756.1:p.Ser1427=
NM_001318829.1:c.4244_4245delinsCG NP_001305758.1:p.Ser1415=
NM_001318831.1:c.3857_3858delinsCG NP_001305760.1:p.Ser1286=
NM_001318832.1:c.4421_4422delinsCG NP_001305761.1:p.Ser1474=
NM_001363528.1:c.4391_4392delinsCG NP_001350457.1:p.Ser1464=
NM_021055.2:c.4460_4461delinsCG NP_066399.2:p.Ser1487=
XM_005255531.4:c.4391_4392delinsCG XP_005255588.2:p.Ser1464=
XM_011522636.2:c.4643_4644delinsCG XP_011520938.1:p.Ser1548=
XM_011522637.2:c.4640_4641delinsCG XP_011520939.1:p.Ser1547=
XM_011522638.2:c.4805_4806delinsCG XP_011520940.2:p.Ser1602=
XM_011522639.2:c.4514_4515delinsCG XP_011520941.1:p.Ser1505=
XM_011522640.2:c.4511_4512delinsCG XP_011520942.1:p.Ser1504=
XM_017023615.1:c.4586_4587delinsCG XP_016879104.1:p.Ser1529=
XM_017023616.1:c.4457_4458delinsCG XP_016879105.1:p.Ser1486=
XM_017023617.1:c.4553_4554delinsCG XP_016879106.1:p.Ser1518=
XM_017023618.1:c.3299_3300delinsCG XP_016879107.1:p.Ser1100=
XM_024450413.1:c.4388_4389delinsCG XP_024306181.1:p.Ser1463=
NM_000548.5:c.4589_4590delinsCG MANE Select NP_000539.2:p.Ser1530=
NM_001370404.1:c.4457_4458delinsCG NP_001357333.1:p.Ser1486=
NM_001370405.1:c.4460_4461delinsCG NP_001357334.1:p.Ser1487=
NM_001077183.3:c.4388_4389delinsCG NP_001070651.1:p.Ser1463=
NM_001114382.3:c.4520_4521delinsCG NP_001107854.1:p.Ser1507=
NM_001318827.2:c.4280_4281delinsCG NP_001305756.1:p.Ser1427=
NM_001318829.2:c.4244_4245delinsCG NP_001305758.1:p.Ser1415=
NM_001318831.2:c.3857_3858delinsCG NP_001305760.1:p.Ser1286=
NM_001318832.2:c.4421_4422delinsCG NP_001305761.1:p.Ser1474=
NM_001363528.2:c.4391_4392delinsCG NP_001350457.1:p.Ser1464=
NM_021055.3:c.4460_4461delinsCG NP_066399.2:p.Ser1487=