Canonical Allele Identifier: CA394315966
Community Standard Title: NM_000548.5(TSC2):c.5377C>G (p.Arg1793Gly)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088563C>G , CM000678.2:g.2088563C>G GRCh38
NC_000016.9:g.2138564C>G , CM000678.1:g.2138564C>G GRCh37
NC_000016.8:g.2078565C>G NCBI36
NG_005895.1:g.44258C>G , LRG_487:g.44258C>G
NG_008617.1:g.54658G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5377C>G MANE Select NP_000539.2:p.Arg1793Gly
ENST00000219476.9:c.5377C>G MANE Select ENSP00000219476.3:p.Arg1793Gly
NM_000548.3:c.5377C>G , LRG_487t1:c.5377C>G NP_000539.2:p.Arg1793Gly
NM_000548.4:c.5377C>G NP_000539.2:p.Arg1793Gly
NM_001077183.1:c.5176C>G NP_001070651.1:p.Arg1726Gly
NM_001077183.2:c.5176C>G NP_001070651.1:p.Arg1726Gly
NM_001077183.3:c.5176C>G NP_001070651.1:p.Arg1726Gly
NM_001114382.1:c.5308C>G NP_001107854.1:p.Arg1770Gly
NM_001114382.2:c.5308C>G NP_001107854.1:p.Arg1770Gly
NM_001114382.3:c.5308C>G NP_001107854.1:p.Arg1770Gly
NM_001318827.1:c.5068C>G NP_001305756.1:p.Arg1690Gly
NM_001318827.2:c.5068C>G NP_001305756.1:p.Arg1690Gly
NM_001318829.1:c.5032C>G NP_001305758.1:p.Arg1678Gly
NM_001318829.2:c.5032C>G NP_001305758.1:p.Arg1678Gly
NM_001318831.1:c.4645C>G NP_001305760.1:p.Arg1549Gly
NM_001318831.2:c.4645C>G NP_001305760.1:p.Arg1549Gly
NM_001318832.1:c.5209C>G NP_001305761.1:p.Arg1737Gly
NM_001318832.2:c.5209C>G NP_001305761.1:p.Arg1737Gly
NM_001363528.1:c.5179C>G NP_001350457.1:p.Arg1727Gly
NM_001363528.2:c.5179C>G NP_001350457.1:p.Arg1727Gly
NM_001370404.1:c.5245C>G NP_001357333.1:p.Arg1749Gly
NM_001370405.1:c.5236C>G NP_001357334.1:p.Arg1746Gly
NM_021055.2:c.5248C>G NP_066399.2:p.Arg1750Gly
NM_021055.3:c.5248C>G NP_066399.2:p.Arg1750Gly
ENST00000219476.7:c.5377C>G ENSP00000219476.3:p.Arg1793Gly
ENST00000350773.8:c.5308C>G ENSP00000344383.4:p.Arg1770Gly
ENST00000350773.9:c.5308C>G ENSP00000344383.4:p.Arg1770Gly
ENST00000382538.10:c.5032C>G ENSP00000371978.6:p.Arg1678Gly
ENST00000401874.6:c.5176C>G ENSP00000384468.2:p.Arg1726Gly
ENST00000401874.7:c.5176C>G ENSP00000384468.2:p.Arg1726Gly
ENST00000439117.6:c.*4544C>G ENSP00000406980.2:n.*4544C>G
ENST00000439673.6:c.5068C>G ENSP00000399232.2:p.Arg1690Gly
ENST00000497886.5:n.3100C>G
ENST00000568454.5:c.5209C>G ENSP00000454487.1:p.Arg1737Gly
ENST00000568454.6:c.5209C>G ENSP00000454487.1:p.Arg1737Gly
ENST00000568566.6:c.*3726C>G ENSP00000455997.2:n.*3726C>G
ENST00000569110.1:c.1559C>G
ENST00000569110.2:c.1600C>G
ENST00000569930.1:n.2492C>G
ENST00000569930.2:n.3259C>G
ENST00000642206.2:c.5224C>G ENSP00000495146.2:p.Arg1742Gly
ENST00000642365.1:c.4031C>G
ENST00000642365.2:c.5374C>G ENSP00000495459.2:p.Arg1792Gly
ENST00000642561.1:c.5236C>G ENSP00000495099.1:p.Arg1746Gly
ENST00000642791.1:n.974C>G
ENST00000642797.1:c.5179C>G ENSP00000493846.1:p.Arg1727Gly
ENST00000642936.1:c.5245C>G ENSP00000494514.1:p.Arg1749Gly
ENST00000643088.1:c.5170C>G ENSP00000494747.1:p.Arg1724Gly
ENST00000643426.1:n.3025C>G
ENST00000643946.1:c.5302C>G ENSP00000495927.1:p.Arg1768Gly
ENST00000644043.1:c.5248C>G ENSP00000496262.1:p.Arg1750Gly
ENST00000644329.1:c.5263C>G ENSP00000496611.1:p.Arg1755Gly
ENST00000644335.1:c.5173C>G ENSP00000496317.1:p.Arg1725Gly
ENST00000644399.1:c.5298C>G
ENST00000644417.2:c.*5890C>G ENSP00000493912.2:n.*5890C>G
ENST00000645024.1:n.3461C>G
ENST00000646388.1:c.5371C>G ENSP00000495921.1:p.Arg1791Gly
ENST00000646464.2:c.*8126C>G ENSP00000496610.2:n.*8126C>G
ENST00000646634.1:n.4192C>G
ENST00000646674.1:n.2629C>G
ENST00000647042.1:n.2600C>G
ENST00000647180.1:n.2490C>G
XM_005255529.3:c.5248C>G XP_005255586.2:p.Arg1750Gly
XM_005255531.3:c.5179C>G XP_005255588.2:p.Arg1727Gly
XM_005255531.4:c.5179C>G XP_005255588.2:p.Arg1727Gly
XM_011522636.1:c.5431C>G XP_011520938.1:p.Arg1811Gly
XM_011522636.2:c.5431C>G XP_011520938.1:p.Arg1811Gly
XM_011522637.1:c.5428C>G XP_011520939.1:p.Arg1810Gly
XM_011522637.2:c.5428C>G XP_011520939.1:p.Arg1810Gly
XM_011522638.1:c.5320C>G XP_011520940.1:p.Arg1774Gly
XM_011522638.2:c.5593C>G XP_011520940.2:p.Arg1865Gly
XM_011522639.1:c.5302C>G XP_011520941.1:p.Arg1768Gly
XM_011522639.2:c.5302C>G XP_011520941.1:p.Arg1768Gly
XM_011522640.1:c.5299C>G XP_011520942.1:p.Arg1767Gly
XM_011522640.2:c.5299C>G XP_011520942.1:p.Arg1767Gly
XM_011522641.1:c.5068C>G XP_011520943.1:p.Arg1690Gly
XM_017023615.1:c.5374C>G XP_016879104.1:p.Arg1792Gly
XM_017023616.1:c.5245C>G XP_016879105.1:p.Arg1749Gly
XM_017023617.1:c.5341C>G XP_016879106.1:p.Arg1781Gly
XM_017023618.1:c.4087C>G XP_016879107.1:p.Arg1363Gly
XM_024450413.1:c.5263C>G XP_024306181.1:p.Arg1755Gly