Canonical Allele Identifier: CA394315971
Community Standard Title: NM_000548.5(TSC2):c.5377C>T (p.Arg1793Trp)
Gene: TSC2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5377C>T MANE Select NP_000539.2:p.Arg1793Trp
ENST00000219476.9:c.5377C>T MANE Select ENSP00000219476.3:p.Arg1793Trp
NM_000548.3:c.5377C>T , LRG_487t1:c.5377C>T NP_000539.2:p.Arg1793Trp
NM_000548.4:c.5377C>T NP_000539.2:p.Arg1793Trp
NM_001077183.1:c.5176C>T NP_001070651.1:p.Arg1726Trp
NM_001077183.2:c.5176C>T NP_001070651.1:p.Arg1726Trp
NM_001077183.3:c.5176C>T NP_001070651.1:p.Arg1726Trp
NM_001114382.1:c.5308C>T NP_001107854.1:p.Arg1770Trp
NM_001114382.2:c.5308C>T NP_001107854.1:p.Arg1770Trp
NM_001114382.3:c.5308C>T NP_001107854.1:p.Arg1770Trp
NM_001318827.1:c.5068C>T NP_001305756.1:p.Arg1690Trp
NM_001318827.2:c.5068C>T NP_001305756.1:p.Arg1690Trp
NM_001318829.1:c.5032C>T NP_001305758.1:p.Arg1678Trp
NM_001318829.2:c.5032C>T NP_001305758.1:p.Arg1678Trp
NM_001318831.1:c.4645C>T NP_001305760.1:p.Arg1549Trp
NM_001318831.2:c.4645C>T NP_001305760.1:p.Arg1549Trp
NM_001318832.1:c.5209C>T NP_001305761.1:p.Arg1737Trp
NM_001318832.2:c.5209C>T NP_001305761.1:p.Arg1737Trp
NM_001363528.1:c.5179C>T NP_001350457.1:p.Arg1727Trp
NM_001363528.2:c.5179C>T NP_001350457.1:p.Arg1727Trp
NM_001370404.1:c.5245C>T NP_001357333.1:p.Arg1749Trp
NM_001370405.1:c.5236C>T NP_001357334.1:p.Arg1746Trp
NM_021055.2:c.5248C>T NP_066399.2:p.Arg1750Trp
NM_021055.3:c.5248C>T NP_066399.2:p.Arg1750Trp
ENST00000219476.7:c.5377C>T ENSP00000219476.3:p.Arg1793Trp
ENST00000350773.8:c.5308C>T ENSP00000344383.4:p.Arg1770Trp
ENST00000350773.9:c.5308C>T ENSP00000344383.4:p.Arg1770Trp
ENST00000382538.10:c.5032C>T ENSP00000371978.6:p.Arg1678Trp
ENST00000401874.6:c.5176C>T ENSP00000384468.2:p.Arg1726Trp
ENST00000401874.7:c.5176C>T ENSP00000384468.2:p.Arg1726Trp
ENST00000439117.6:c.*4544C>T ENSP00000406980.2:n.*4544C>T
ENST00000439673.6:c.5068C>T ENSP00000399232.2:p.Arg1690Trp
ENST00000497886.5:n.3100C>T
ENST00000568454.5:c.5209C>T ENSP00000454487.1:p.Arg1737Trp
ENST00000568454.6:c.5209C>T ENSP00000454487.1:p.Arg1737Trp
ENST00000568566.6:c.*3726C>T ENSP00000455997.2:n.*3726C>T
ENST00000569110.1:c.1559C>T
ENST00000569110.2:c.1600C>T
ENST00000569930.1:n.2492C>T
ENST00000569930.2:n.3259C>T
ENST00000642206.2:c.5224C>T ENSP00000495146.2:p.Arg1742Trp
ENST00000642365.1:c.4031C>T
ENST00000642365.2:c.5374C>T ENSP00000495459.2:p.Arg1792Trp
ENST00000642561.1:c.5236C>T ENSP00000495099.1:p.Arg1746Trp
ENST00000642791.1:n.974C>T
ENST00000642797.1:c.5179C>T ENSP00000493846.1:p.Arg1727Trp
ENST00000642936.1:c.5245C>T ENSP00000494514.1:p.Arg1749Trp
ENST00000643088.1:c.5170C>T ENSP00000494747.1:p.Arg1724Trp
ENST00000643426.1:n.3025C>T
ENST00000643946.1:c.5302C>T ENSP00000495927.1:p.Arg1768Trp
ENST00000644043.1:c.5248C>T ENSP00000496262.1:p.Arg1750Trp
ENST00000644329.1:c.5263C>T ENSP00000496611.1:p.Arg1755Trp
ENST00000644335.1:c.5173C>T ENSP00000496317.1:p.Arg1725Trp
ENST00000644399.1:c.5298C>T
ENST00000644417.2:c.*5890C>T ENSP00000493912.2:n.*5890C>T
ENST00000645024.1:n.3461C>T
ENST00000646388.1:c.5371C>T ENSP00000495921.1:p.Arg1791Trp
ENST00000646464.2:c.*8126C>T ENSP00000496610.2:n.*8126C>T
ENST00000646634.1:n.4192C>T
ENST00000646674.1:n.2629C>T
ENST00000647042.1:n.2600C>T
ENST00000647180.1:n.2490C>T
XM_005255529.3:c.5248C>T XP_005255586.2:p.Arg1750Trp
XM_005255531.3:c.5179C>T XP_005255588.2:p.Arg1727Trp
XM_005255531.4:c.5179C>T XP_005255588.2:p.Arg1727Trp
XM_011522636.1:c.5431C>T XP_011520938.1:p.Arg1811Trp
XM_011522636.2:c.5431C>T XP_011520938.1:p.Arg1811Trp
XM_011522637.1:c.5428C>T XP_011520939.1:p.Arg1810Trp
XM_011522637.2:c.5428C>T XP_011520939.1:p.Arg1810Trp
XM_011522638.1:c.5320C>T XP_011520940.1:p.Arg1774Trp
XM_011522638.2:c.5593C>T XP_011520940.2:p.Arg1865Trp
XM_011522639.1:c.5302C>T XP_011520941.1:p.Arg1768Trp
XM_011522639.2:c.5302C>T XP_011520941.1:p.Arg1768Trp
XM_011522640.1:c.5299C>T XP_011520942.1:p.Arg1767Trp
XM_011522640.2:c.5299C>T XP_011520942.1:p.Arg1767Trp
XM_011522641.1:c.5068C>T XP_011520943.1:p.Arg1690Trp
XM_017023615.1:c.5374C>T XP_016879104.1:p.Arg1792Trp
XM_017023616.1:c.5245C>T XP_016879105.1:p.Arg1749Trp
XM_017023617.1:c.5341C>T XP_016879106.1:p.Arg1781Trp
XM_017023618.1:c.4087C>T XP_016879107.1:p.Arg1363Trp
XM_024450413.1:c.5263C>T XP_024306181.1:p.Arg1755Trp