Canonical Allele Identifier: CA016394
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49698
dbSNP Id: rs137854103

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2071819_2071820delinsTT , CM000678.2:g.2071819_2071820delinsTT GRCh38
NC_000016.9:g.2121820_2121821delinsTT , CM000678.1:g.2121820_2121821delinsTT GRCh37
NC_000016.8:g.2061821_2061822delinsTT NCBI36
NG_005895.1:g.27514_27515delinsTT , LRG_487:g.27514_27515delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*529_*530delinsTT ENSP00000455997.2:n.*529_*530delinsTT
ENST00000642206.2:c.2027_2028delinsTT ENSP00000495146.2:p.Gly676Val
ENST00000642365.2:c.1982_1983delinsTT ENSP00000495459.2:p.Gly661Val
ENST00000644417.2:c.*1419_*1420delinsTT ENSP00000493912.2:n.*1419_*1420delinsTT
ENST00000646464.2:c.*1587_*1588delinsTT ENSP00000496610.2:n.*1587_*1588delinsTT
ENST00000219476.9:c.1982_1983delinsTT MANE Select ENSP00000219476.3:p.Gly661Val
ENST00000350773.9:c.1982_1983delinsTT ENSP00000344383.4:p.Gly661Val
ENST00000401874.7:c.1982_1983delinsTT ENSP00000384468.2:p.Gly661Val
ENST00000563346.2:n.160_161delinsTT
ENST00000568454.6:c.2015_2016delinsTT ENSP00000454487.1:p.Gly672Val
ENST00000642365.1:c.639_640delinsTT
ENST00000642561.1:c.1982_1983delinsTT ENSP00000495099.1:p.Gly661Val
ENST00000642797.1:c.1982_1983delinsTT ENSP00000493846.1:p.Gly661Val
ENST00000642936.1:c.1982_1983delinsTT ENSP00000494514.1:p.Gly661Val
ENST00000643088.1:c.1982_1983delinsTT ENSP00000494747.1:p.Gly661Val
ENST00000643298.1:c.*1484_*1485delinsTT ENSP00000494393.1:n.*1484_*1485delinsTT
ENST00000643946.1:c.1982_1983delinsTT ENSP00000495927.1:p.Gly661Val
ENST00000644043.1:c.1982_1983delinsTT ENSP00000496262.1:p.Gly661Val
ENST00000644329.1:c.1982_1983delinsTT ENSP00000496611.1:p.Gly661Val
ENST00000644335.1:c.1982_1983delinsTT ENSP00000496317.1:p.Gly661Val
ENST00000644399.1:c.1975_1976delinsTT
ENST00000644847.1:n.974_975delinsTT
ENST00000645024.1:n.264_265delinsTT
ENST00000645552.1:n.262_263delinsTT
ENST00000646388.1:c.1982_1983delinsTT ENSP00000495921.1:p.Gly661Val
ENST00000646464.1:c.35_36delinsTT ENSP00000496610.1:p.Gly12Val
ENST00000646634.1:n.995_996delinsTT
ENST00000219476.7:c.1982_1983delinsTT ENSP00000219476.3:p.Gly661Val
ENST00000350773.8:c.1982_1983delinsTT ENSP00000344383.4:p.Gly661Val
ENST00000382538.10:c.1835_1836delinsTT ENSP00000371978.6:p.Gly612Val
ENST00000401874.6:c.1982_1983delinsTT ENSP00000384468.2:p.Gly661Val
ENST00000439117.6:c.*1281_*1282delinsTT ENSP00000406980.2:n.*1281_*1282delinsTT
ENST00000439673.6:c.1871_1872delinsTT ENSP00000399232.2:p.Gly624Val
ENST00000488675.5:n.489_490delinsTT
ENST00000563346.1:n.51_52delinsTT
ENST00000568454.5:c.2015_2016delinsTT ENSP00000454487.1:p.Gly672Val
NM_000548.3:c.1982_1983delinsTT , LRG_487t1:c.1982_1983delinsTT NP_000539.2:p.Gly661Val
NM_001077183.1:c.1982_1983delinsTT NP_001070651.1:p.Gly661Val
NM_001114382.1:c.1982_1983delinsTT NP_001107854.1:p.Gly661Val
XM_005255529.3:c.1982_1983delinsTT XP_005255586.2:p.Gly661Val
XM_005255531.3:c.1982_1983delinsTT XP_005255588.2:p.Gly661Val
XM_011522636.1:c.1982_1983delinsTT XP_011520938.1:p.Gly661Val
XM_011522637.1:c.1982_1983delinsTT XP_011520939.1:p.Gly661Val
XM_011522638.1:c.1871_1872delinsTT XP_011520940.1:p.Gly624Val
XM_011522639.1:c.1982_1983delinsTT XP_011520941.1:p.Gly661Val
XM_011522640.1:c.1982_1983delinsTT XP_011520942.1:p.Gly661Val
XM_011522641.1:c.1871_1872delinsTT XP_011520943.1:p.Gly624Val
NM_000548.4:c.1982_1983delinsTT NP_000539.2:p.Gly661Val
NM_001077183.2:c.1982_1983delinsTT NP_001070651.1:p.Gly661Val
NM_001114382.2:c.1982_1983delinsTT NP_001107854.1:p.Gly661Val
NM_001318827.1:c.1871_1872delinsTT NP_001305756.1:p.Gly624Val
NM_001318829.1:c.1835_1836delinsTT NP_001305758.1:p.Gly612Val
NM_001318831.1:c.1382_1383delinsTT NP_001305760.1:p.Gly461Val
NM_001318832.1:c.2015_2016delinsTT NP_001305761.1:p.Gly672Val
NM_001363528.1:c.1982_1983delinsTT NP_001350457.1:p.Gly661Val
NM_021055.2:c.1982_1983delinsTT NP_066399.2:p.Gly661Val
XM_005255531.4:c.1982_1983delinsTT XP_005255588.2:p.Gly661Val
XM_011522636.2:c.1982_1983delinsTT XP_011520938.1:p.Gly661Val
XM_011522637.2:c.1982_1983delinsTT XP_011520939.1:p.Gly661Val
XM_011522638.2:c.2144_2145delinsTT XP_011520940.2:p.Gly715Val
XM_011522639.2:c.1982_1983delinsTT XP_011520941.1:p.Gly661Val
XM_011522640.2:c.1982_1983delinsTT XP_011520942.1:p.Gly661Val
XM_017023615.1:c.1982_1983delinsTT XP_016879104.1:p.Gly661Val
XM_017023616.1:c.1982_1983delinsTT XP_016879105.1:p.Gly661Val
XM_017023617.1:c.2144_2145delinsTT XP_016879106.1:p.Gly715Val
XM_017023618.1:c.638_639delinsTT XP_016879107.1:p.Gly213Val
XM_024450413.1:c.1982_1983delinsTT XP_024306181.1:p.Gly661Val
NM_000548.5:c.1982_1983delinsTT MANE Select NP_000539.2:p.Gly661Val
NM_001370404.1:c.1982_1983delinsTT NP_001357333.1:p.Gly661Val
NM_001370405.1:c.1982_1983delinsTT NP_001357334.1:p.Gly661Val
NM_001077183.3:c.1982_1983delinsTT NP_001070651.1:p.Gly661Val
NM_001114382.3:c.1982_1983delinsTT NP_001107854.1:p.Gly661Val
NM_001318827.2:c.1871_1872delinsTT NP_001305756.1:p.Gly624Val
NM_001318829.2:c.1835_1836delinsTT NP_001305758.1:p.Gly612Val
NM_001318831.2:c.1382_1383delinsTT NP_001305760.1:p.Gly461Val
NM_001318832.2:c.2015_2016delinsTT NP_001305761.1:p.Gly672Val
NM_001363528.2:c.1982_1983delinsTT NP_001350457.1:p.Gly661Val
NM_021055.3:c.1982_1983delinsTT NP_066399.2:p.Gly661Val