Canonical Allele Identifier: CA2202019025
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085230_2085232delinsTCA , CM000678.2:g.2085230_2085232delinsTCA GRCh38
NC_000016.9:g.2135231_2135233delinsTCA , CM000678.1:g.2135231_2135233delinsTCA GRCh37
NC_000016.8:g.2075232_2075234delinsTCA NCBI36
NG_005895.1:g.40925_40927delinsTCA , LRG_487:g.40925_40927delinsTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2919_*2921delinsTCA ENSP00000455997.2:n.*2919_*2921delinsTCA
ENST00000642206.2:c.4417_4419delinsTCA ENSP00000495146.2:p.Ser1473=
ENST00000642365.2:c.4567_4569delinsTCA ENSP00000495459.2:p.Ser1523=
ENST00000644417.2:c.*4950_*4952delinsTCA ENSP00000493912.2:n.*4950_*4952delinsTCA
ENST00000646464.2:c.*7319_*7321delinsTCA ENSP00000496610.2:n.*7319_*7321delinsTCA
ENST00000219476.9:c.4570_4572delinsTCA MANE Select ENSP00000219476.3:p.Ser1524=
ENST00000350773.9:c.4501_4503delinsTCA ENSP00000344383.4:p.Ser1501=
ENST00000401874.7:c.4369_4371delinsTCA ENSP00000384468.2:p.Ser1457=
ENST00000568454.6:c.4402_4404delinsTCA ENSP00000454487.1:p.Ser1468=
ENST00000569110.2:c.793_795delinsTCA
ENST00000569930.2:n.2452_2454delinsTCA
ENST00000642365.1:c.3224_3226delinsTCA
ENST00000642561.1:c.4441_4443delinsTCA ENSP00000495099.1:p.Ser1481=
ENST00000642728.1:n.752_754delinsTCA
ENST00000642791.1:n.167_169delinsTCA
ENST00000642797.1:c.4372_4374delinsTCA ENSP00000493846.1:p.Ser1458=
ENST00000642936.1:c.4438_4440delinsTCA ENSP00000494514.1:p.Ser1480=
ENST00000643088.1:c.4369-6_4369-4delinsTCA ENSP00000494747.1:n.4369-6_4369-4delinsTCA
ENST00000643177.1:n.584_586delinsTCA
ENST00000643426.1:n.2218_2220delinsTCA
ENST00000643946.1:c.4501-6_4501-4delinsTCA ENSP00000495927.1:n.4501-6_4501-4delinsTCA
ENST00000644043.1:c.4441_4443delinsTCA ENSP00000496262.1:p.Ser1481=
ENST00000644278.1:n.52_54delinsTCA
ENST00000644329.1:c.4369_4371delinsTCA ENSP00000496611.1:p.Ser1457=
ENST00000644335.1:c.4372-6_4372-4delinsTCA ENSP00000496317.1:n.4372-6_4372-4delinsTCA
ENST00000644399.1:c.4491_4493delinsTCA
ENST00000645024.1:n.2654_2656delinsTCA
ENST00000646388.1:c.4570-6_4570-4delinsTCA ENSP00000495921.1:n.4570-6_4570-4delinsTCA
ENST00000646634.1:n.3385_3387delinsTCA
ENST00000646674.1:n.1822_1824delinsTCA
ENST00000647042.1:n.1793_1795delinsTCA
ENST00000647180.1:n.1683_1685delinsTCA
ENST00000219476.7:c.4570_4572delinsTCA ENSP00000219476.3:p.Ser1524=
ENST00000350773.8:c.4501_4503delinsTCA ENSP00000344383.4:p.Ser1501=
ENST00000382538.10:c.4225_4227delinsTCA ENSP00000371978.6:p.Ser1409=
ENST00000401874.6:c.4369_4371delinsTCA ENSP00000384468.2:p.Ser1457=
ENST00000439117.6:c.*3737_*3739delinsTCA ENSP00000406980.2:n.*3737_*3739delinsTCA
ENST00000439673.6:c.4261_4263delinsTCA ENSP00000399232.2:p.Ser1421=
ENST00000497886.5:n.2328_2330delinsTCA
ENST00000568454.5:c.4402_4404delinsTCA ENSP00000454487.1:p.Ser1468=
ENST00000569110.1:c.752_754delinsTCA
ENST00000569930.1:n.1685_1687delinsTCA
NM_000548.3:c.4570_4572delinsTCA , LRG_487t1:c.4570_4572delinsTCA NP_000539.2:p.Ser1524=
NM_001077183.1:c.4369_4371delinsTCA NP_001070651.1:p.Ser1457=
NM_001114382.1:c.4501_4503delinsTCA NP_001107854.1:p.Ser1501=
XM_005255529.3:c.4441_4443delinsTCA XP_005255586.2:p.Ser1481=
XM_005255531.3:c.4372_4374delinsTCA XP_005255588.2:p.Ser1458=
XM_011522636.1:c.4624_4626delinsTCA XP_011520938.1:p.Ser1542=
XM_011522637.1:c.4621_4623delinsTCA XP_011520939.1:p.Ser1541=
XM_011522638.1:c.4513_4515delinsTCA XP_011520940.1:p.Ser1505=
XM_011522639.1:c.4495_4497delinsTCA XP_011520941.1:p.Ser1499=
XM_011522640.1:c.4492_4494delinsTCA XP_011520942.1:p.Ser1498=
XM_011522641.1:c.4261_4263delinsTCA XP_011520943.1:p.Ser1421=
NM_000548.4:c.4570_4572delinsTCA NP_000539.2:p.Ser1524=
NM_001077183.2:c.4369_4371delinsTCA NP_001070651.1:p.Ser1457=
NM_001114382.2:c.4501_4503delinsTCA NP_001107854.1:p.Ser1501=
NM_001318827.1:c.4261_4263delinsTCA NP_001305756.1:p.Ser1421=
NM_001318829.1:c.4225_4227delinsTCA NP_001305758.1:p.Ser1409=
NM_001318831.1:c.3838_3840delinsTCA NP_001305760.1:p.Ser1280=
NM_001318832.1:c.4402_4404delinsTCA NP_001305761.1:p.Ser1468=
NM_001363528.1:c.4372_4374delinsTCA NP_001350457.1:p.Ser1458=
NM_021055.2:c.4441_4443delinsTCA NP_066399.2:p.Ser1481=
XM_005255531.4:c.4372_4374delinsTCA XP_005255588.2:p.Ser1458=
XM_011522636.2:c.4624_4626delinsTCA XP_011520938.1:p.Ser1542=
XM_011522637.2:c.4621_4623delinsTCA XP_011520939.1:p.Ser1541=
XM_011522638.2:c.4786_4788delinsTCA XP_011520940.2:p.Ser1596=
XM_011522639.2:c.4495_4497delinsTCA XP_011520941.1:p.Ser1499=
XM_011522640.2:c.4492_4494delinsTCA XP_011520942.1:p.Ser1498=
XM_017023615.1:c.4567_4569delinsTCA XP_016879104.1:p.Ser1523=
XM_017023616.1:c.4438_4440delinsTCA XP_016879105.1:p.Ser1480=
XM_017023617.1:c.4534_4536delinsTCA XP_016879106.1:p.Ser1512=
XM_017023618.1:c.3280_3282delinsTCA XP_016879107.1:p.Ser1094=
XM_024450413.1:c.4369_4371delinsTCA XP_024306181.1:p.Ser1457=
NM_000548.5:c.4570_4572delinsTCA MANE Select NP_000539.2:p.Ser1524=
NM_001370404.1:c.4438_4440delinsTCA NP_001357333.1:p.Ser1480=
NM_001370405.1:c.4441_4443delinsTCA NP_001357334.1:p.Ser1481=
NM_001077183.3:c.4369_4371delinsTCA NP_001070651.1:p.Ser1457=
NM_001114382.3:c.4501_4503delinsTCA NP_001107854.1:p.Ser1501=
NM_001318827.2:c.4261_4263delinsTCA NP_001305756.1:p.Ser1421=
NM_001318829.2:c.4225_4227delinsTCA NP_001305758.1:p.Ser1409=
NM_001318831.2:c.3838_3840delinsTCA NP_001305760.1:p.Ser1280=
NM_001318832.2:c.4402_4404delinsTCA NP_001305761.1:p.Ser1468=
NM_001363528.2:c.4372_4374delinsTCA NP_001350457.1:p.Ser1458=
NM_021055.3:c.4441_4443delinsTCA NP_066399.2:p.Ser1481=