Canonical Allele Identifier: CA2825002357
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069892
ClinVar RCV Id: RCV004009924
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088573_2088574insTCATCTCCTCGGTGGAGGACT , CM000678.2:g.2088573_2088574insTCATCTCCTCGGTGGAGGACT GRCh38
NC_000016.9:g.2138574_2138575insTCATCTCCTCGGTGGAGGACT , CM000678.1:g.2138574_2138575insTCATCTCCTCGGTGGAGGACT GRCh37
NC_000016.8:g.2078575_2078576insTCATCTCCTCGGTGGAGGACT NCBI36
NG_005895.1:g.44268_44269insTCATCTCCTCGGTGGAGGACT , LRG_487:g.44268_44269insTCATCTCCTCGGTGGAGGACT
NG_008617.1:g.54649_54650insTCCTCCACCGAGGAGATGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3736_*3737insTCATCTCCTCGGTGGAGGACT ENSP00000455997.2:n.*3736_*3737insTCATCTCCTCGGTGGAGGACT
ENST00000642206.2:c.5234_5235insTCATCTCCTCGGTGGAGGACT ENSP00000495146.2:p.Leu1745_Ile1746insHisLeuLeuGlyGlyGlyLeu
ENST00000642365.2:c.5384_5385insTCATCTCCTCGGTGGAGGACT ENSP00000495459.2:p.Leu1795_Ile1796insHisLeuLeuGlyGlyGlyLeu
ENST00000644417.2:c.*5900_*5901insTCATCTCCTCGGTGGAGGACT ENSP00000493912.2:n.*5900_*5901insTCATCTCCTCGGTGGAGGACT
ENST00000646464.2:c.*8136_*8137insTCATCTCCTCGGTGGAGGACT ENSP00000496610.2:n.*8136_*8137insTCATCTCCTCGGTGGAGGACT
ENST00000219476.9:c.5387_5388insTCATCTCCTCGGTGGAGGACT MANE Select ENSP00000219476.3:p.Leu1796_Ile1797insHisLeuLeuGlyGlyGlyLeu
ENST00000350773.9:c.5318_5319insTCATCTCCTCGGTGGAGGACT ENSP00000344383.4:p.Leu1773_Ile1774insHisLeuLeuGlyGlyGlyLeu
ENST00000401874.7:c.5186_5187insTCATCTCCTCGGTGGAGGACT ENSP00000384468.2:p.Leu1729_Ile1730insHisLeuLeuGlyGlyGlyLeu
ENST00000568454.6:c.5219_5220insTCATCTCCTCGGTGGAGGACT ENSP00000454487.1:p.Leu1740_Ile1741insHisLeuLeuGlyGlyGlyLeu
ENST00000569110.2:c.1610_1611insTCATCTCCTCGGTGGAGGACT
ENST00000569930.2:n.3269_3270insTCATCTCCTCGGTGGAGGACT
ENST00000642365.1:c.4041_4042insTCATCTCCTCGGTGGAGGACT
ENST00000642561.1:c.5246_5247insTCATCTCCTCGGTGGAGGACT ENSP00000495099.1:p.Leu1749_Ile1750insHisLeuLeuGlyGlyGlyLeu
ENST00000642791.1:n.984_985insTCATCTCCTCGGTGGAGGACT
ENST00000642797.1:c.5189_5190insTCATCTCCTCGGTGGAGGACT ENSP00000493846.1:p.Leu1730_Ile1731insHisLeuLeuGlyGlyGlyLeu
ENST00000642936.1:c.5255_5256insTCATCTCCTCGGTGGAGGACT ENSP00000494514.1:p.Leu1752_Ile1753insHisLeuLeuGlyGlyGlyLeu
ENST00000643088.1:c.5180_5181insTCATCTCCTCGGTGGAGGACT ENSP00000494747.1:p.Leu1727_Ile1728insHisLeuLeuGlyGlyGlyLeu
ENST00000643426.1:n.3035_3036insTCATCTCCTCGGTGGAGGACT
ENST00000643946.1:c.5312_5313insTCATCTCCTCGGTGGAGGACT ENSP00000495927.1:p.Leu1771_Ile1772insHisLeuLeuGlyGlyGlyLeu
ENST00000644043.1:c.5258_5259insTCATCTCCTCGGTGGAGGACT ENSP00000496262.1:p.Leu1753_Ile1754insHisLeuLeuGlyGlyGlyLeu
ENST00000644329.1:c.5273_5274insTCATCTCCTCGGTGGAGGACT ENSP00000496611.1:p.Leu1758_Ile1759insHisLeuLeuGlyGlyGlyLeu
ENST00000644335.1:c.5183_5184insTCATCTCCTCGGTGGAGGACT ENSP00000496317.1:p.Leu1728_Ile1729insHisLeuLeuGlyGlyGlyLeu
ENST00000644399.1:c.5308_5309insTCATCTCCTCGGTGGAGGACT
ENST00000645024.1:n.3471_3472insTCATCTCCTCGGTGGAGGACT
ENST00000646388.1:c.5381_5382insTCATCTCCTCGGTGGAGGACT ENSP00000495921.1:p.Leu1794_Ile1795insHisLeuLeuGlyGlyGlyLeu
ENST00000646634.1:n.4202_4203insTCATCTCCTCGGTGGAGGACT
ENST00000646674.1:n.2639_2640insTCATCTCCTCGGTGGAGGACT
ENST00000647042.1:n.2610_2611insTCATCTCCTCGGTGGAGGACT
ENST00000647180.1:n.2500_2501insTCATCTCCTCGGTGGAGGACT
ENST00000219476.7:c.5387_5388insTCATCTCCTCGGTGGAGGACT ENSP00000219476.3:p.Leu1796_Ile1797insHisLeuLeuGlyGlyGlyLeu
ENST00000350773.8:c.5318_5319insTCATCTCCTCGGTGGAGGACT ENSP00000344383.4:p.Leu1773_Ile1774insHisLeuLeuGlyGlyGlyLeu
ENST00000382538.10:c.5042_5043insTCATCTCCTCGGTGGAGGACT ENSP00000371978.6:p.Leu1681_Ile1682insHisLeuLeuGlyGlyGlyLeu
ENST00000401874.6:c.5186_5187insTCATCTCCTCGGTGGAGGACT ENSP00000384468.2:p.Leu1729_Ile1730insHisLeuLeuGlyGlyGlyLeu
ENST00000439117.6:c.*4554_*4555insTCATCTCCTCGGTGGAGGACT ENSP00000406980.2:n.*4554_*4555insTCATCTCCTCGGTGGAGGACT
ENST00000439673.6:c.5078_5079insTCATCTCCTCGGTGGAGGACT ENSP00000399232.2:p.Leu1693_Ile1694insHisLeuLeuGlyGlyGlyLeu
ENST00000497886.5:n.3110_3111insTCATCTCCTCGGTGGAGGACT
ENST00000568454.5:c.5219_5220insTCATCTCCTCGGTGGAGGACT ENSP00000454487.1:p.Leu1740_Ile1741insHisLeuLeuGlyGlyGlyLeu
ENST00000569110.1:c.1569_1570insTCATCTCCTCGGTGGAGGACT
ENST00000569930.1:n.2502_2503insTCATCTCCTCGGTGGAGGACT
NM_000548.3:c.5387_5388insTCATCTCCTCGGTGGAGGACT , LRG_487t1:c.5387_5388insTCATCTCCTCGGTGGAGGACT NP_000539.2:p.Leu1796_Ile1797insHisLeuLeuGlyGlyGlyLeu
NM_001077183.1:c.5186_5187insTCATCTCCTCGGTGGAGGACT NP_001070651.1:p.Leu1729_Ile1730insHisLeuLeuGlyGlyGlyLeu
NM_001114382.1:c.5318_5319insTCATCTCCTCGGTGGAGGACT NP_001107854.1:p.Leu1773_Ile1774insHisLeuLeuGlyGlyGlyLeu
XM_005255529.3:c.5258_5259insTCATCTCCTCGGTGGAGGACT XP_005255586.2:p.Leu1753_Ile1754insHisLeuLeuGlyGlyGlyLeu
XM_005255531.3:c.5189_5190insTCATCTCCTCGGTGGAGGACT XP_005255588.2:p.Leu1730_Ile1731insHisLeuLeuGlyGlyGlyLeu
XM_011522636.1:c.5441_5442insTCATCTCCTCGGTGGAGGACT XP_011520938.1:p.Leu1814_Ile1815insHisLeuLeuGlyGlyGlyLeu
XM_011522637.1:c.5438_5439insTCATCTCCTCGGTGGAGGACT XP_011520939.1:p.Leu1813_Ile1814insHisLeuLeuGlyGlyGlyLeu
XM_011522638.1:c.5330_5331insTCATCTCCTCGGTGGAGGACT XP_011520940.1:p.Leu1777_Ile1778insHisLeuLeuGlyGlyGlyLeu
XM_011522639.1:c.5312_5313insTCATCTCCTCGGTGGAGGACT XP_011520941.1:p.Leu1771_Ile1772insHisLeuLeuGlyGlyGlyLeu
XM_011522640.1:c.5309_5310insTCATCTCCTCGGTGGAGGACT XP_011520942.1:p.Leu1770_Ile1771insHisLeuLeuGlyGlyGlyLeu
XM_011522641.1:c.5078_5079insTCATCTCCTCGGTGGAGGACT XP_011520943.1:p.Leu1693_Ile1694insHisLeuLeuGlyGlyGlyLeu
NM_000548.4:c.5387_5388insTCATCTCCTCGGTGGAGGACT NP_000539.2:p.Leu1796_Ile1797insHisLeuLeuGlyGlyGlyLeu
NM_001077183.2:c.5186_5187insTCATCTCCTCGGTGGAGGACT NP_001070651.1:p.Leu1729_Ile1730insHisLeuLeuGlyGlyGlyLeu
NM_001114382.2:c.5318_5319insTCATCTCCTCGGTGGAGGACT NP_001107854.1:p.Leu1773_Ile1774insHisLeuLeuGlyGlyGlyLeu
NM_001318827.1:c.5078_5079insTCATCTCCTCGGTGGAGGACT NP_001305756.1:p.Leu1693_Ile1694insHisLeuLeuGlyGlyGlyLeu
NM_001318829.1:c.5042_5043insTCATCTCCTCGGTGGAGGACT NP_001305758.1:p.Leu1681_Ile1682insHisLeuLeuGlyGlyGlyLeu
NM_001318831.1:c.4655_4656insTCATCTCCTCGGTGGAGGACT NP_001305760.1:p.Leu1552_Ile1553insHisLeuLeuGlyGlyGlyLeu
NM_001318832.1:c.5219_5220insTCATCTCCTCGGTGGAGGACT NP_001305761.1:p.Leu1740_Ile1741insHisLeuLeuGlyGlyGlyLeu
NM_001363528.1:c.5189_5190insTCATCTCCTCGGTGGAGGACT NP_001350457.1:p.Leu1730_Ile1731insHisLeuLeuGlyGlyGlyLeu
NM_021055.2:c.5258_5259insTCATCTCCTCGGTGGAGGACT NP_066399.2:p.Leu1753_Ile1754insHisLeuLeuGlyGlyGlyLeu
XM_005255531.4:c.5189_5190insTCATCTCCTCGGTGGAGGACT XP_005255588.2:p.Leu1730_Ile1731insHisLeuLeuGlyGlyGlyLeu
XM_011522636.2:c.5441_5442insTCATCTCCTCGGTGGAGGACT XP_011520938.1:p.Leu1814_Ile1815insHisLeuLeuGlyGlyGlyLeu
XM_011522637.2:c.5438_5439insTCATCTCCTCGGTGGAGGACT XP_011520939.1:p.Leu1813_Ile1814insHisLeuLeuGlyGlyGlyLeu
XM_011522638.2:c.5603_5604insTCATCTCCTCGGTGGAGGACT XP_011520940.2:p.Leu1868_Ile1869insHisLeuLeuGlyGlyGlyLeu
XM_011522639.2:c.5312_5313insTCATCTCCTCGGTGGAGGACT XP_011520941.1:p.Leu1771_Ile1772insHisLeuLeuGlyGlyGlyLeu
XM_011522640.2:c.5309_5310insTCATCTCCTCGGTGGAGGACT XP_011520942.1:p.Leu1770_Ile1771insHisLeuLeuGlyGlyGlyLeu
XM_017023615.1:c.5384_5385insTCATCTCCTCGGTGGAGGACT XP_016879104.1:p.Leu1795_Ile1796insHisLeuLeuGlyGlyGlyLeu
XM_017023616.1:c.5255_5256insTCATCTCCTCGGTGGAGGACT XP_016879105.1:p.Leu1752_Ile1753insHisLeuLeuGlyGlyGlyLeu
XM_017023617.1:c.5351_5352insTCATCTCCTCGGTGGAGGACT XP_016879106.1:p.Leu1784_Ile1785insHisLeuLeuGlyGlyGlyLeu
XM_017023618.1:c.4097_4098insTCATCTCCTCGGTGGAGGACT XP_016879107.1:p.Leu1366_Ile1367insHisLeuLeuGlyGlyGlyLeu
XM_024450413.1:c.5273_5274insTCATCTCCTCGGTGGAGGACT XP_024306181.1:p.Leu1758_Ile1759insHisLeuLeuGlyGlyGlyLeu
NM_000548.5:c.5387_5388insTCATCTCCTCGGTGGAGGACT MANE Select NP_000539.2:p.Leu1796_Ile1797insHisLeuLeuGlyGlyGlyLeu
NM_001370404.1:c.5255_5256insTCATCTCCTCGGTGGAGGACT NP_001357333.1:p.Leu1752_Ile1753insHisLeuLeuGlyGlyGlyLeu
NM_001370405.1:c.5246_5247insTCATCTCCTCGGTGGAGGACT NP_001357334.1:p.Leu1749_Ile1750insHisLeuLeuGlyGlyGlyLeu
NM_001077183.3:c.5186_5187insTCATCTCCTCGGTGGAGGACT NP_001070651.1:p.Leu1729_Ile1730insHisLeuLeuGlyGlyGlyLeu
NM_001114382.3:c.5318_5319insTCATCTCCTCGGTGGAGGACT NP_001107854.1:p.Leu1773_Ile1774insHisLeuLeuGlyGlyGlyLeu
NM_001318827.2:c.5078_5079insTCATCTCCTCGGTGGAGGACT NP_001305756.1:p.Leu1693_Ile1694insHisLeuLeuGlyGlyGlyLeu
NM_001318829.2:c.5042_5043insTCATCTCCTCGGTGGAGGACT NP_001305758.1:p.Leu1681_Ile1682insHisLeuLeuGlyGlyGlyLeu
NM_001318831.2:c.4655_4656insTCATCTCCTCGGTGGAGGACT NP_001305760.1:p.Leu1552_Ile1553insHisLeuLeuGlyGlyGlyLeu
NM_001318832.2:c.5219_5220insTCATCTCCTCGGTGGAGGACT NP_001305761.1:p.Leu1740_Ile1741insHisLeuLeuGlyGlyGlyLeu
NM_001363528.2:c.5189_5190insTCATCTCCTCGGTGGAGGACT NP_001350457.1:p.Leu1730_Ile1731insHisLeuLeuGlyGlyGlyLeu
NM_021055.3:c.5258_5259insTCATCTCCTCGGTGGAGGACT NP_066399.2:p.Leu1753_Ile1754insHisLeuLeuGlyGlyGlyLeu
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