Canonical Allele Identifier: CA2805579157
Gene: TSC2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2071872_2071873insCCTGCAGCCCCCGCCG , CM000678.2:g.2071872_2071873insCCTGCAGCCCCCGCCG GRCh38
NC_000016.9:g.2121873_2121874insCCTGCAGCCCCCGCCG , CM000678.1:g.2121873_2121874insCCTGCAGCCCCCGCCG GRCh37
NC_000016.8:g.2061874_2061875insCCTGCAGCCCCCGCCG NCBI36
NG_005895.1:g.27567_27568insCCTGCAGCCCCCGCCG , LRG_487:g.27567_27568insCCTGCAGCCCCCGCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*582_*583insCCTGCAGCCCCCGCCG ENSP00000455997.2:n.*582_*583insCCTGCAGCCCCCGCCG
ENST00000642206.2:c.2080_2081insCCTGCAGCCCCCGCCG ENSP00000495146.2:p.Val694AlafsTer29
ENST00000642365.2:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000495459.2:p.Val679AlafsTer29
ENST00000644417.2:c.*1472_*1473insCCTGCAGCCCCCGCCG ENSP00000493912.2:n.*1472_*1473insCCTGCAGCCCCCGCCG
ENST00000646464.2:c.*1640_*1641insCCTGCAGCCCCCGCCG ENSP00000496610.2:n.*1640_*1641insCCTGCAGCCCCCGCCG
ENST00000219476.9:c.2035_2036insCCTGCAGCCCCCGCCG MANE Select ENSP00000219476.3:p.Val679AlafsTer29
ENST00000350773.9:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000344383.4:p.Val679AlafsTer29
ENST00000401874.7:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000384468.2:p.Val679AlafsTer29
ENST00000563346.2:n.213_214insCCTGCAGCCCCCGCCG
ENST00000568454.6:c.2068_2069insCCTGCAGCCCCCGCCG ENSP00000454487.1:p.Val690AlafsTer29
ENST00000642365.1:c.692_693insCCTGCAGCCCCCGCCG
ENST00000642561.1:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000495099.1:p.Val679AlafsTer29
ENST00000642797.1:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000493846.1:p.Val679AlafsTer29
ENST00000642936.1:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000494514.1:p.Val679AlafsTer29
ENST00000643088.1:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000494747.1:p.Val679AlafsTer29
ENST00000643298.1:c.*1537_*1538insCCTGCAGCCCCCGCCG ENSP00000494393.1:n.*1537_*1538insCCTGCAGCCCCCGCCG
ENST00000643946.1:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000495927.1:p.Val679AlafsTer29
ENST00000644043.1:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000496262.1:p.Val679AlafsTer29
ENST00000644329.1:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000496611.1:p.Val679AlafsTer29
ENST00000644335.1:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000496317.1:p.Val679AlafsTer29
ENST00000644399.1:c.2028_2029insCCTGCAGCCCCCGCCG
ENST00000644847.1:n.1027_1028insCCTGCAGCCCCCGCCG
ENST00000645024.1:n.317_318insCCTGCAGCCCCCGCCG
ENST00000645552.1:n.315_316insCCTGCAGCCCCCGCCG
ENST00000646388.1:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000495921.1:p.Val679AlafsTer29
ENST00000646464.1:c.88_89insCCTGCAGCCCCCGCCG ENSP00000496610.1:p.Val30AlafsTer?
ENST00000646634.1:n.1048_1049insCCTGCAGCCCCCGCCG
ENST00000219476.7:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000219476.3:p.Val679AlafsTer29
ENST00000350773.8:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000344383.4:p.Val679AlafsTer29
ENST00000382538.10:c.1888_1889insCCTGCAGCCCCCGCCG ENSP00000371978.6:p.Val630AlafsTer29
ENST00000401874.6:c.2035_2036insCCTGCAGCCCCCGCCG ENSP00000384468.2:p.Val679AlafsTer29
ENST00000439117.6:c.*1334_*1335insCCTGCAGCCCCCGCCG ENSP00000406980.2:n.*1334_*1335insCCTGCAGCCCCCGCCG
ENST00000439673.6:c.1924_1925insCCTGCAGCCCCCGCCG ENSP00000399232.2:p.Val642AlafsTer29
ENST00000488675.5:n.542_543insCCTGCAGCCCCCGCCG
ENST00000563346.1:n.104_105insCCTGCAGCCCCCGCCG
ENST00000568454.5:c.2068_2069insCCTGCAGCCCCCGCCG ENSP00000454487.1:p.Val690AlafsTer29
NM_000548.3:c.2035_2036insCCTGCAGCCCCCGCCG , LRG_487t1:c.2035_2036insCCTGCAGCCCCCGCCG NP_000539.2:p.Val679AlafsTer29
NM_001077183.1:c.2035_2036insCCTGCAGCCCCCGCCG NP_001070651.1:p.Val679AlafsTer29
NM_001114382.1:c.2035_2036insCCTGCAGCCCCCGCCG NP_001107854.1:p.Val679AlafsTer29
XM_005255529.3:c.2035_2036insCCTGCAGCCCCCGCCG XP_005255586.2:p.Val679AlafsTer29
XM_005255531.3:c.2035_2036insCCTGCAGCCCCCGCCG XP_005255588.2:p.Val679AlafsTer29
XM_011522636.1:c.2035_2036insCCTGCAGCCCCCGCCG XP_011520938.1:p.Val679AlafsTer29
XM_011522637.1:c.2035_2036insCCTGCAGCCCCCGCCG XP_011520939.1:p.Val679AlafsTer29
XM_011522638.1:c.1924_1925insCCTGCAGCCCCCGCCG XP_011520940.1:p.Val642AlafsTer29
XM_011522639.1:c.2035_2036insCCTGCAGCCCCCGCCG XP_011520941.1:p.Val679AlafsTer29
XM_011522640.1:c.2035_2036insCCTGCAGCCCCCGCCG XP_011520942.1:p.Val679AlafsTer29
XM_011522641.1:c.1924_1925insCCTGCAGCCCCCGCCG XP_011520943.1:p.Val642AlafsTer29
NM_000548.4:c.2035_2036insCCTGCAGCCCCCGCCG NP_000539.2:p.Val679AlafsTer29
NM_001077183.2:c.2035_2036insCCTGCAGCCCCCGCCG NP_001070651.1:p.Val679AlafsTer29
NM_001114382.2:c.2035_2036insCCTGCAGCCCCCGCCG NP_001107854.1:p.Val679AlafsTer29
NM_001318827.1:c.1924_1925insCCTGCAGCCCCCGCCG NP_001305756.1:p.Val642AlafsTer29
NM_001318829.1:c.1888_1889insCCTGCAGCCCCCGCCG NP_001305758.1:p.Val630AlafsTer29
NM_001318831.1:c.1435_1436insCCTGCAGCCCCCGCCG NP_001305760.1:p.Val479AlafsTer29
NM_001318832.1:c.2068_2069insCCTGCAGCCCCCGCCG NP_001305761.1:p.Val690AlafsTer29
NM_001363528.1:c.2035_2036insCCTGCAGCCCCCGCCG NP_001350457.1:p.Val679AlafsTer29
NM_021055.2:c.2035_2036insCCTGCAGCCCCCGCCG NP_066399.2:p.Val679AlafsTer29
XM_005255531.4:c.2035_2036insCCTGCAGCCCCCGCCG XP_005255588.2:p.Val679AlafsTer29
XM_011522636.2:c.2035_2036insCCTGCAGCCCCCGCCG XP_011520938.1:p.Val679AlafsTer29
XM_011522637.2:c.2035_2036insCCTGCAGCCCCCGCCG XP_011520939.1:p.Val679AlafsTer29
XM_011522638.2:c.2197_2198insCCTGCAGCCCCCGCCG XP_011520940.2:p.Val733AlafsTer29
XM_011522639.2:c.2035_2036insCCTGCAGCCCCCGCCG XP_011520941.1:p.Val679AlafsTer29
XM_011522640.2:c.2035_2036insCCTGCAGCCCCCGCCG XP_011520942.1:p.Val679AlafsTer29
XM_017023615.1:c.2035_2036insCCTGCAGCCCCCGCCG XP_016879104.1:p.Val679AlafsTer29
XM_017023616.1:c.2035_2036insCCTGCAGCCCCCGCCG XP_016879105.1:p.Val679AlafsTer29
XM_017023617.1:c.2197_2198insCCTGCAGCCCCCGCCG XP_016879106.1:p.Val733AlafsTer29
XM_017023618.1:c.691_692insCCTGCAGCCCCCGCCG XP_016879107.1:p.Val231AlafsTer29
XM_024450413.1:c.2035_2036insCCTGCAGCCCCCGCCG XP_024306181.1:p.Val679AlafsTer29
NM_000548.5:c.2035_2036insCCTGCAGCCCCCGCCG MANE Select NP_000539.2:p.Val679AlafsTer29
NM_001370404.1:c.2035_2036insCCTGCAGCCCCCGCCG NP_001357333.1:p.Val679AlafsTer29
NM_001370405.1:c.2035_2036insCCTGCAGCCCCCGCCG NP_001357334.1:p.Val679AlafsTer29
NM_001077183.3:c.2035_2036insCCTGCAGCCCCCGCCG NP_001070651.1:p.Val679AlafsTer29
NM_001114382.3:c.2035_2036insCCTGCAGCCCCCGCCG NP_001107854.1:p.Val679AlafsTer29
NM_001318827.2:c.1924_1925insCCTGCAGCCCCCGCCG NP_001305756.1:p.Val642AlafsTer29
NM_001318829.2:c.1888_1889insCCTGCAGCCCCCGCCG NP_001305758.1:p.Val630AlafsTer29
NM_001318831.2:c.1435_1436insCCTGCAGCCCCCGCCG NP_001305760.1:p.Val479AlafsTer29
NM_001318832.2:c.2068_2069insCCTGCAGCCCCCGCCG NP_001305761.1:p.Val690AlafsTer29
NM_001363528.2:c.2035_2036insCCTGCAGCCCCCGCCG NP_001350457.1:p.Val679AlafsTer29
NM_021055.3:c.2035_2036insCCTGCAGCCCCCGCCG NP_066399.2:p.Val679AlafsTer29
Search 100 bp 5'
Search 100 bp 3'