Canonical Allele Identifier: CA10583308
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237989
ClinVar RCV Id: RCV000231818
dbSNP Id: rs878854082
MyVariant Identifiers: chr16:g.2124274_2124306delinsC (hg19) chr16:g.2074273_2074305delinsC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2074273_2074305delinsC , CM000678.2:g.2074273_2074305delinsC GRCh38
NC_000016.9:g.2124274_2124306delinsC , CM000678.1:g.2124274_2124306delinsC GRCh37
NC_000016.8:g.2064275_2064307delinsC NCBI36
NG_005895.1:g.29968_30000delinsC , LRG_487:g.29968_30000delinsC

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*976_*1008delinsC ENSP00000455997.2:n.*976_*1008delinsC
ENST00000642206.2:c.2474_2506delinsC ENSP00000495146.2:p.Ile825ThrfsTer?
ENST00000642365.2:c.2429_2461delinsC ENSP00000495459.2:p.Ile810ThrfsTer?
ENST00000644417.2:c.*1866_*1898delinsC ENSP00000493912.2:n.*1866_*1898delinsC
ENST00000646464.2:c.*2074_*2106delinsC ENSP00000496610.2:n.*2074_*2106delinsC
ENST00000219476.9:c.2429_2461delinsC MANE Select ENSP00000219476.3:p.Ile810ThrfsTer?
ENST00000350773.9:c.2429_2461delinsC ENSP00000344383.4:p.Ile810ThrfsTer?
ENST00000401874.7:c.2429_2461delinsC ENSP00000384468.2:p.Ile810ThrfsTer?
ENST00000563346.2:n.607_639delinsC
ENST00000568454.6:c.2462_2494delinsC ENSP00000454487.1:p.Ile821ThrfsTer?
ENST00000642365.1:c.1086_1118delinsC
ENST00000642561.1:c.2429_2461delinsC ENSP00000495099.1:p.Ile810ThrfsTer?
ENST00000642797.1:c.2429_2461delinsC ENSP00000493846.1:p.Ile810ThrfsTer?
ENST00000642936.1:c.2429_2461delinsC ENSP00000494514.1:p.Ile810ThrfsTer?
ENST00000643088.1:c.2429_2461delinsC ENSP00000494747.1:p.Ile810ThrfsTer?
ENST00000643298.1:c.*1931_*1963delinsC ENSP00000494393.1:n.*1931_*1963delinsC
ENST00000643946.1:c.2429_2461delinsC ENSP00000495927.1:p.Ile810ThrfsTer?
ENST00000644043.1:c.2429_2461delinsC ENSP00000496262.1:p.Ile810ThrfsTer?
ENST00000644329.1:c.2429_2461delinsC ENSP00000496611.1:p.Ile810ThrfsTer?
ENST00000644335.1:c.2429_2461delinsC ENSP00000496317.1:p.Ile810ThrfsTer?
ENST00000644399.1:c.2422_2454delinsC
ENST00000644847.1:n.1421_1453delinsC
ENST00000645024.1:n.711_743delinsC
ENST00000645552.1:n.709_741delinsC
ENST00000646388.1:c.2429_2461delinsC ENSP00000495921.1:p.Ile810ThrfsTer?
ENST00000646634.1:n.1442_1474delinsC
ENST00000219476.7:c.2429_2461delinsC ENSP00000219476.3:p.Ile810ThrfsTer?
ENST00000350773.8:c.2429_2461delinsC ENSP00000344383.4:p.Ile810ThrfsTer?
ENST00000382538.10:c.2282_2314delinsC ENSP00000371978.6:p.Ile761ThrfsTer?
ENST00000401874.6:c.2429_2461delinsC ENSP00000384468.2:p.Ile810ThrfsTer?
ENST00000439117.6:c.*1728_*1760delinsC ENSP00000406980.2:n.*1728_*1760delinsC
ENST00000439673.6:c.2318_2350delinsC ENSP00000399232.2:p.Ile773ThrfsTer?
ENST00000463808.1:n.463_495delinsC
ENST00000563346.1:n.498_530delinsC
ENST00000568454.5:c.2462_2494delinsC ENSP00000454487.1:p.Ile821ThrfsTer?
NM_000548.3:c.2429_2461delinsC , LRG_487t1:c.2429_2461delinsC NP_000539.2:p.Ile810ThrfsTer?
NM_001077183.1:c.2429_2461delinsC NP_001070651.1:p.Ile810ThrfsTer?
NM_001114382.1:c.2429_2461delinsC NP_001107854.1:p.Ile810ThrfsTer?
XM_005255529.3:c.2429_2461delinsC XP_005255586.2:p.Ile810ThrfsTer?
XM_005255531.3:c.2429_2461delinsC XP_005255588.2:p.Ile810ThrfsTer?
XM_011522636.1:c.2429_2461delinsC XP_011520938.1:p.Ile810ThrfsTer?
XM_011522637.1:c.2429_2461delinsC XP_011520939.1:p.Ile810ThrfsTer?
XM_011522638.1:c.2318_2350delinsC XP_011520940.1:p.Ile773ThrfsTer?
XM_011522639.1:c.2429_2461delinsC XP_011520941.1:p.Ile810ThrfsTer?
XM_011522640.1:c.2429_2461delinsC XP_011520942.1:p.Ile810ThrfsTer?
XM_011522641.1:c.2318_2350delinsC XP_011520943.1:p.Ile773ThrfsTer?
NM_000548.4:c.2429_2461delinsC NP_000539.2:p.Ile810ThrfsTer?
NM_001077183.2:c.2429_2461delinsC NP_001070651.1:p.Ile810ThrfsTer?
NM_001114382.2:c.2429_2461delinsC NP_001107854.1:p.Ile810ThrfsTer?
NM_001318827.1:c.2318_2350delinsC NP_001305756.1:p.Ile773ThrfsTer?
NM_001318829.1:c.2282_2314delinsC NP_001305758.1:p.Ile761ThrfsTer?
NM_001318831.1:c.1829_1861delinsC NP_001305760.1:p.Ile610ThrfsTer?
NM_001318832.1:c.2462_2494delinsC NP_001305761.1:p.Ile821ThrfsTer?
NM_001363528.1:c.2429_2461delinsC NP_001350457.1:p.Ile810ThrfsTer?
NM_021055.2:c.2429_2461delinsC NP_066399.2:p.Ile810ThrfsTer?
XM_005255531.4:c.2429_2461delinsC XP_005255588.2:p.Ile810ThrfsTer?
XM_011522636.2:c.2429_2461delinsC XP_011520938.1:p.Ile810ThrfsTer?
XM_011522637.2:c.2429_2461delinsC XP_011520939.1:p.Ile810ThrfsTer?
XM_011522638.2:c.2591_2623delinsC XP_011520940.2:p.Ile864ThrfsTer?
XM_011522639.2:c.2429_2461delinsC XP_011520941.1:p.Ile810ThrfsTer?
XM_011522640.2:c.2429_2461delinsC XP_011520942.1:p.Ile810ThrfsTer?
XM_017023615.1:c.2429_2461delinsC XP_016879104.1:p.Ile810ThrfsTer?
XM_017023616.1:c.2429_2461delinsC XP_016879105.1:p.Ile810ThrfsTer?
XM_017023617.1:c.2591_2623delinsC XP_016879106.1:p.Ile864ThrfsTer?
XM_017023618.1:c.1085_1117delinsC XP_016879107.1:p.Ile362ThrfsTer?
XM_024450413.1:c.2429_2461delinsC XP_024306181.1:p.Ile810ThrfsTer?
NM_000548.5:c.2429_2461delinsC MANE Select NP_000539.2:p.Ile810ThrfsTer?
NM_001370404.1:c.2429_2461delinsC NP_001357333.1:p.Ile810ThrfsTer?
NM_001370405.1:c.2429_2461delinsC NP_001357334.1:p.Ile810ThrfsTer?
NM_001077183.3:c.2429_2461delinsC NP_001070651.1:p.Ile810ThrfsTer?
NM_001114382.3:c.2429_2461delinsC NP_001107854.1:p.Ile810ThrfsTer?
NM_001318827.2:c.2318_2350delinsC NP_001305756.1:p.Ile773ThrfsTer?
NM_001318829.2:c.2282_2314delinsC NP_001305758.1:p.Ile761ThrfsTer?
NM_001318831.2:c.1829_1861delinsC NP_001305760.1:p.Ile610ThrfsTer?
NM_001318832.2:c.2462_2494delinsC NP_001305761.1:p.Ile821ThrfsTer?
NM_001363528.2:c.2429_2461delinsC NP_001350457.1:p.Ile810ThrfsTer?
NM_021055.3:c.2429_2461delinsC NP_066399.2:p.Ile810ThrfsTer?
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