Canonical Allele Identifier: CA2580091180
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1917216
ClinVar RCV Id: RCV002598099

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088452_2088462delinsCTTCAGAT , CM000678.2:g.2088452_2088462delinsCTTCAGAT GRCh38
NC_000016.9:g.2138453_2138463delinsCTTCAGAT , CM000678.1:g.2138453_2138463delinsCTTCAGAT GRCh37
NC_000016.8:g.2078454_2078464delinsCTTCAGAT NCBI36
NG_005895.1:g.44147_44157delinsCTTCAGAT , LRG_487:g.44147_44157delinsCTTCAGAT
NG_008617.1:g.54759_54769delinsATCTGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3615_*3625delinsCTTCAGAT ENSP00000455997.2:n.*3615_*3625delinsCTTCAGAT
ENST00000642206.2:c.5113_5123delinsCTTCAGAT ENSP00000495146.2:p.Glu1705_Ala1708delinsLeuGlnIle
ENST00000642365.2:c.5263_5273delinsCTTCAGAT ENSP00000495459.2:p.Glu1755_Ala1758delinsLeuGlnIle
ENST00000644417.2:c.*5779_*5789delinsCTTCAGAT ENSP00000493912.2:n.*5779_*5789delinsCTTCAGAT
ENST00000646464.2:c.*8015_*8025delinsCTTCAGAT ENSP00000496610.2:n.*8015_*8025delinsCTTCAGAT
ENST00000219476.9:c.5266_5276delinsCTTCAGAT MANE Select ENSP00000219476.3:p.Glu1756_Ala1759delinsLeuGlnIle
ENST00000350773.9:c.5197_5207delinsCTTCAGAT ENSP00000344383.4:p.Glu1733_Ala1736delinsLeuGlnIle
ENST00000401874.7:c.5065_5075delinsCTTCAGAT ENSP00000384468.2:p.Glu1689_Ala1692delinsLeuGlnIle
ENST00000568454.6:c.5098_5108delinsCTTCAGAT ENSP00000454487.1:p.Glu1700_Ala1703delinsLeuGlnIle
ENST00000569110.2:c.1489_1499delinsCTTCAGAT
ENST00000569930.2:n.3148_3158delinsCTTCAGAT
ENST00000642365.1:c.3920_3930delinsCTTCAGAT
ENST00000642561.1:c.5125_5135delinsCTTCAGAT ENSP00000495099.1:p.Glu1709_Ala1712delinsLeuGlnIle
ENST00000642791.1:n.863_873delinsCTTCAGAT
ENST00000642797.1:c.5068_5078delinsCTTCAGAT ENSP00000493846.1:p.Glu1690_Ala1693delinsLeuGlnIle
ENST00000642936.1:c.5134_5144delinsCTTCAGAT ENSP00000494514.1:p.Glu1712_Ala1715delinsLeuGlnIle
ENST00000643088.1:c.5059_5069delinsCTTCAGAT ENSP00000494747.1:p.Glu1687_Ala1690delinsLeuGlnIle
ENST00000643426.1:n.2914_2924delinsCTTCAGAT
ENST00000643946.1:c.5191_5201delinsCTTCAGAT ENSP00000495927.1:p.Glu1731_Ala1734delinsLeuGlnIle
ENST00000644043.1:c.5137_5147delinsCTTCAGAT ENSP00000496262.1:p.Glu1713_Ala1716delinsLeuGlnIle
ENST00000644329.1:c.5152_5162delinsCTTCAGAT ENSP00000496611.1:p.Glu1718_Ala1721delinsLeuGlnIle
ENST00000644335.1:c.5062_5072delinsCTTCAGAT ENSP00000496317.1:p.Glu1688_Ala1691delinsLeuGlnIle
ENST00000644399.1:c.5187_5197delinsCTTCAGAT
ENST00000645024.1:n.3350_3360delinsCTTCAGAT
ENST00000646388.1:c.5260_5270delinsCTTCAGAT ENSP00000495921.1:p.Glu1754_Ala1757delinsLeuGlnIle
ENST00000646634.1:n.4081_4091delinsCTTCAGAT
ENST00000646674.1:n.2518_2528delinsCTTCAGAT
ENST00000647042.1:n.2489_2499delinsCTTCAGAT
ENST00000647180.1:n.2379_2389delinsCTTCAGAT
ENST00000219476.7:c.5266_5276delinsCTTCAGAT ENSP00000219476.3:p.Glu1756_Ala1759delinsLeuGlnIle
ENST00000350773.8:c.5197_5207delinsCTTCAGAT ENSP00000344383.4:p.Glu1733_Ala1736delinsLeuGlnIle
ENST00000382538.10:c.4921_4931delinsCTTCAGAT ENSP00000371978.6:p.Glu1641_Ala1644delinsLeuGlnIle
ENST00000401874.6:c.5065_5075delinsCTTCAGAT ENSP00000384468.2:p.Glu1689_Ala1692delinsLeuGlnIle
ENST00000439117.6:c.*4433_*4443delinsCTTCAGAT ENSP00000406980.2:n.*4433_*4443delinsCTTCAGAT
ENST00000439673.6:c.4957_4967delinsCTTCAGAT ENSP00000399232.2:p.Glu1653_Ala1656delinsLeuGlnIle
ENST00000497886.5:n.2989_2999delinsCTTCAGAT
ENST00000568454.5:c.5098_5108delinsCTTCAGAT ENSP00000454487.1:p.Glu1700_Ala1703delinsLeuGlnIle
ENST00000569110.1:c.1448_1458delinsCTTCAGAT
ENST00000569930.1:n.2381_2391delinsCTTCAGAT
NM_000548.3:c.5266_5276delinsCTTCAGAT , LRG_487t1:c.5266_5276delinsCTTCAGAT NP_000539.2:p.Glu1756_Ala1759delinsLeuGlnIle
NM_001077183.1:c.5065_5075delinsCTTCAGAT NP_001070651.1:p.Glu1689_Ala1692delinsLeuGlnIle
NM_001114382.1:c.5197_5207delinsCTTCAGAT NP_001107854.1:p.Glu1733_Ala1736delinsLeuGlnIle
XM_005255529.3:c.5137_5147delinsCTTCAGAT XP_005255586.2:p.Glu1713_Ala1716delinsLeuGlnIle
XM_005255531.3:c.5068_5078delinsCTTCAGAT XP_005255588.2:p.Glu1690_Ala1693delinsLeuGlnIle
XM_011522636.1:c.5320_5330delinsCTTCAGAT XP_011520938.1:p.Glu1774_Ala1777delinsLeuGlnIle
XM_011522637.1:c.5317_5327delinsCTTCAGAT XP_011520939.1:p.Glu1773_Ala1776delinsLeuGlnIle
XM_011522638.1:c.5209_5219delinsCTTCAGAT XP_011520940.1:p.Glu1737_Ala1740delinsLeuGlnIle
XM_011522639.1:c.5191_5201delinsCTTCAGAT XP_011520941.1:p.Glu1731_Ala1734delinsLeuGlnIle
XM_011522640.1:c.5188_5198delinsCTTCAGAT XP_011520942.1:p.Glu1730_Ala1733delinsLeuGlnIle
XM_011522641.1:c.4957_4967delinsCTTCAGAT XP_011520943.1:p.Glu1653_Ala1656delinsLeuGlnIle
NM_000548.4:c.5266_5276delinsCTTCAGAT NP_000539.2:p.Glu1756_Ala1759delinsLeuGlnIle
NM_001077183.2:c.5065_5075delinsCTTCAGAT NP_001070651.1:p.Glu1689_Ala1692delinsLeuGlnIle
NM_001114382.2:c.5197_5207delinsCTTCAGAT NP_001107854.1:p.Glu1733_Ala1736delinsLeuGlnIle
NM_001318827.1:c.4957_4967delinsCTTCAGAT NP_001305756.1:p.Glu1653_Ala1656delinsLeuGlnIle
NM_001318829.1:c.4921_4931delinsCTTCAGAT NP_001305758.1:p.Glu1641_Ala1644delinsLeuGlnIle
NM_001318831.1:c.4534_4544delinsCTTCAGAT NP_001305760.1:p.Glu1512_Ala1515delinsLeuGlnIle
NM_001318832.1:c.5098_5108delinsCTTCAGAT NP_001305761.1:p.Glu1700_Ala1703delinsLeuGlnIle
NM_001363528.1:c.5068_5078delinsCTTCAGAT NP_001350457.1:p.Glu1690_Ala1693delinsLeuGlnIle
NM_021055.2:c.5137_5147delinsCTTCAGAT NP_066399.2:p.Glu1713_Ala1716delinsLeuGlnIle
XM_005255531.4:c.5068_5078delinsCTTCAGAT XP_005255588.2:p.Glu1690_Ala1693delinsLeuGlnIle
XM_011522636.2:c.5320_5330delinsCTTCAGAT XP_011520938.1:p.Glu1774_Ala1777delinsLeuGlnIle
XM_011522637.2:c.5317_5327delinsCTTCAGAT XP_011520939.1:p.Glu1773_Ala1776delinsLeuGlnIle
XM_011522638.2:c.5482_5492delinsCTTCAGAT XP_011520940.2:p.Glu1828_Ala1831delinsLeuGlnIle
XM_011522639.2:c.5191_5201delinsCTTCAGAT XP_011520941.1:p.Glu1731_Ala1734delinsLeuGlnIle
XM_011522640.2:c.5188_5198delinsCTTCAGAT XP_011520942.1:p.Glu1730_Ala1733delinsLeuGlnIle
XM_017023615.1:c.5263_5273delinsCTTCAGAT XP_016879104.1:p.Glu1755_Ala1758delinsLeuGlnIle
XM_017023616.1:c.5134_5144delinsCTTCAGAT XP_016879105.1:p.Glu1712_Ala1715delinsLeuGlnIle
XM_017023617.1:c.5230_5240delinsCTTCAGAT XP_016879106.1:p.Glu1744_Ala1747delinsLeuGlnIle
XM_017023618.1:c.3976_3986delinsCTTCAGAT XP_016879107.1:p.Glu1326_Ala1329delinsLeuGlnIle
XM_024450413.1:c.5152_5162delinsCTTCAGAT XP_024306181.1:p.Glu1718_Ala1721delinsLeuGlnIle
NM_000548.5:c.5266_5276delinsCTTCAGAT MANE Select NP_000539.2:p.Glu1756_Ala1759delinsLeuGlnIle
NM_001370404.1:c.5134_5144delinsCTTCAGAT NP_001357333.1:p.Glu1712_Ala1715delinsLeuGlnIle
NM_001370405.1:c.5125_5135delinsCTTCAGAT NP_001357334.1:p.Glu1709_Ala1712delinsLeuGlnIle
NM_001077183.3:c.5065_5075delinsCTTCAGAT NP_001070651.1:p.Glu1689_Ala1692delinsLeuGlnIle
NM_001114382.3:c.5197_5207delinsCTTCAGAT NP_001107854.1:p.Glu1733_Ala1736delinsLeuGlnIle
NM_001318827.2:c.4957_4967delinsCTTCAGAT NP_001305756.1:p.Glu1653_Ala1656delinsLeuGlnIle
NM_001318829.2:c.4921_4931delinsCTTCAGAT NP_001305758.1:p.Glu1641_Ala1644delinsLeuGlnIle
NM_001318831.2:c.4534_4544delinsCTTCAGAT NP_001305760.1:p.Glu1512_Ala1515delinsLeuGlnIle
NM_001318832.2:c.5098_5108delinsCTTCAGAT NP_001305761.1:p.Glu1700_Ala1703delinsLeuGlnIle
NM_001363528.2:c.5068_5078delinsCTTCAGAT NP_001350457.1:p.Glu1690_Ala1693delinsLeuGlnIle
NM_021055.3:c.5137_5147delinsCTTCAGAT NP_066399.2:p.Glu1713_Ala1716delinsLeuGlnIle