Canonical Allele Identifier: CA2580090926
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2056853
ClinVar RCV Id: RCV002923054
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2079276_2079277insAGAC , CM000678.2:g.2079276_2079277insAGAC GRCh38
NC_000016.9:g.2129277_2129278insAGAC , CM000678.1:g.2129277_2129278insAGAC GRCh37
NC_000016.8:g.2069278_2069279insAGAC NCBI36
NG_005895.1:g.34971_34972insAGAC , LRG_487:g.34971_34972insAGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*1550_*1551insAGAC ENSP00000455997.2:n.*1550_*1551insAGAC
ENST00000642206.2:c.3048_3049insAGAC ENSP00000495146.2:p.Ser1017ArgfsTer?
ENST00000642365.2:c.3129_3130insAGAC ENSP00000495459.2:p.Ser1044ArgfsTer?
ENST00000644417.2:c.*3581_*3582insAGAC ENSP00000493912.2:n.*3581_*3582insAGAC
ENST00000646464.2:c.*4054_*4055insAGAC ENSP00000496610.2:n.*4054_*4055insAGAC
ENST00000219476.9:c.3132_3133insAGAC MANE Select ENSP00000219476.3:p.Ser1045ArgfsTer?
ENST00000350773.9:c.3132_3133insAGAC ENSP00000344383.4:p.Ser1045ArgfsTer?
ENST00000401874.7:c.3000_3001insAGAC ENSP00000384468.2:p.Ser1001ArgfsTer?
ENST00000471143.6:c.360_361insAGAC ENSP00000458541.2:n.360_361insAGAC
ENST00000568366.6:n.489_490insAGAC
ENST00000568454.6:c.3033_3034insAGAC ENSP00000454487.1:p.Ser1012ArgfsTer?
ENST00000642365.1:c.1786_1787insAGAC
ENST00000642561.1:c.3003_3004insAGAC ENSP00000495099.1:p.Ser1002ArgfsTer?
ENST00000642797.1:c.3003_3004insAGAC ENSP00000493846.1:p.Ser1002ArgfsTer?
ENST00000642936.1:c.3000_3001insAGAC ENSP00000494514.1:p.Ser1001ArgfsTer?
ENST00000643088.1:c.3000_3001insAGAC ENSP00000494747.1:p.Ser1001ArgfsTer?
ENST00000643946.1:c.3132_3133insAGAC ENSP00000495927.1:p.Ser1045ArgfsTer?
ENST00000644043.1:c.3003_3004insAGAC ENSP00000496262.1:p.Ser1002ArgfsTer?
ENST00000644329.1:c.3000_3001insAGAC ENSP00000496611.1:p.Ser1001ArgfsTer?
ENST00000644335.1:c.3003_3004insAGAC ENSP00000496317.1:p.Ser1002ArgfsTer?
ENST00000644399.1:c.3122_3123insAGAC
ENST00000644722.1:n.278_279insAGAC
ENST00000645024.1:n.1285_1286insAGAC
ENST00000646388.1:c.3132_3133insAGAC ENSP00000495921.1:p.Ser1045ArgfsTer?
ENST00000646634.1:n.2016_2017insAGAC
ENST00000647042.1:n.424_425insAGAC
ENST00000219476.7:c.3132_3133insAGAC ENSP00000219476.3:p.Ser1045ArgfsTer?
ENST00000350773.8:c.3132_3133insAGAC ENSP00000344383.4:p.Ser1045ArgfsTer?
ENST00000382538.10:c.2856_2857insAGAC ENSP00000371978.6:p.Ser953ArgfsTer?
ENST00000401874.6:c.3000_3001insAGAC ENSP00000384468.2:p.Ser1001ArgfsTer?
ENST00000439117.6:c.*2299_*2300insAGAC ENSP00000406980.2:n.*2299_*2300insAGAC
ENST00000439673.6:c.2892_2893insAGAC ENSP00000399232.2:p.Ser965ArgfsTer?
ENST00000471143.5:c.358_359insAGAC
ENST00000483020.5:c.372_373insAGAC ENSP00000460310.1:n.372_373insAGAC
ENST00000497886.5:n.959_960insAGAC
ENST00000561695.1:n.357_358insAGAC
ENST00000568366.5:n.489_490insAGAC
ENST00000568454.5:c.3033_3034insAGAC ENSP00000454487.1:p.Ser1012ArgfsTer?
NM_000548.3:c.3132_3133insAGAC , LRG_487t1:c.3132_3133insAGAC NP_000539.2:p.Ser1045ArgfsTer?
NM_001077183.1:c.3000_3001insAGAC NP_001070651.1:p.Ser1001ArgfsTer?
NM_001114382.1:c.3132_3133insAGAC NP_001107854.1:p.Ser1045ArgfsTer?
XM_005255529.3:c.3003_3004insAGAC XP_005255586.2:p.Ser1002ArgfsTer?
XM_005255531.3:c.3003_3004insAGAC XP_005255588.2:p.Ser1002ArgfsTer?
XM_011522636.1:c.3132_3133insAGAC XP_011520938.1:p.Ser1045ArgfsTer?
XM_011522637.1:c.3129_3130insAGAC XP_011520939.1:p.Ser1044ArgfsTer?
XM_011522638.1:c.3021_3022insAGAC XP_011520940.1:p.Ser1008ArgfsTer?
XM_011522639.1:c.3003_3004insAGAC XP_011520941.1:p.Ser1002ArgfsTer?
XM_011522640.1:c.3000_3001insAGAC XP_011520942.1:p.Ser1001ArgfsTer?
XM_011522641.1:c.2892_2893insAGAC XP_011520943.1:p.Ser965ArgfsTer?
NM_000548.4:c.3132_3133insAGAC NP_000539.2:p.Ser1045ArgfsTer?
NM_001077183.2:c.3000_3001insAGAC NP_001070651.1:p.Ser1001ArgfsTer?
NM_001114382.2:c.3132_3133insAGAC NP_001107854.1:p.Ser1045ArgfsTer?
NM_001318827.1:c.2892_2893insAGAC NP_001305756.1:p.Ser965ArgfsTer?
NM_001318829.1:c.2856_2857insAGAC NP_001305758.1:p.Ser953ArgfsTer?
NM_001318831.1:c.2400_2401insAGAC NP_001305760.1:p.Ser801ArgfsTer?
NM_001318832.1:c.3033_3034insAGAC NP_001305761.1:p.Ser1012ArgfsTer?
NM_001363528.1:c.3003_3004insAGAC NP_001350457.1:p.Ser1002ArgfsTer?
NM_021055.2:c.3003_3004insAGAC NP_066399.2:p.Ser1002ArgfsTer?
XM_005255531.4:c.3003_3004insAGAC XP_005255588.2:p.Ser1002ArgfsTer?
XM_011522636.2:c.3132_3133insAGAC XP_011520938.1:p.Ser1045ArgfsTer?
XM_011522637.2:c.3129_3130insAGAC XP_011520939.1:p.Ser1044ArgfsTer?
XM_011522638.2:c.3294_3295insAGAC XP_011520940.2:p.Ser1099ArgfsTer?
XM_011522639.2:c.3003_3004insAGAC XP_011520941.1:p.Ser1002ArgfsTer?
XM_011522640.2:c.3000_3001insAGAC XP_011520942.1:p.Ser1001ArgfsTer?
XM_017023615.1:c.3129_3130insAGAC XP_016879104.1:p.Ser1044ArgfsTer?
XM_017023616.1:c.3000_3001insAGAC XP_016879105.1:p.Ser1001ArgfsTer?
XM_017023617.1:c.3165_3166insAGAC XP_016879106.1:p.Ser1056ArgfsTer?
XM_017023618.1:c.1788_1789insAGAC XP_016879107.1:p.Ser597ArgfsTer?
XM_024450413.1:c.3000_3001insAGAC XP_024306181.1:p.Ser1001ArgfsTer?
NM_000548.5:c.3132_3133insAGAC MANE Select NP_000539.2:p.Ser1045ArgfsTer?
NM_001370404.1:c.3000_3001insAGAC NP_001357333.1:p.Ser1001ArgfsTer?
NM_001370405.1:c.3003_3004insAGAC NP_001357334.1:p.Ser1002ArgfsTer?
NM_001077183.3:c.3000_3001insAGAC NP_001070651.1:p.Ser1001ArgfsTer?
NM_001114382.3:c.3132_3133insAGAC NP_001107854.1:p.Ser1045ArgfsTer?
NM_001318827.2:c.2892_2893insAGAC NP_001305756.1:p.Ser965ArgfsTer?
NM_001318829.2:c.2856_2857insAGAC NP_001305758.1:p.Ser953ArgfsTer?
NM_001318831.2:c.2400_2401insAGAC NP_001305760.1:p.Ser801ArgfsTer?
NM_001318832.2:c.3033_3034insAGAC NP_001305761.1:p.Ser1012ArgfsTer?
NM_001363528.2:c.3003_3004insAGAC NP_001350457.1:p.Ser1002ArgfsTer?
NM_021055.3:c.3003_3004insAGAC NP_066399.2:p.Ser1002ArgfsTer?
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