Canonical Allele Identifier: CA049833
Community Standard Title: NM_000548.5(TSC2):c.3982A>G (p.Arg1328Gly)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2083793A>G , CM000678.2:g.2083793A>G GRCh38
NC_000016.9:g.2133794A>G , CM000678.1:g.2133794A>G GRCh37
NC_000016.8:g.2073795A>G NCBI36
NG_005895.1:g.39488A>G , LRG_487:g.39488A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.3982A>G MANE Select NP_000539.2:p.Arg1328Gly
ENST00000219476.9:c.3982A>G MANE Select ENSP00000219476.3:p.Arg1328Gly
NM_000548.3:c.3982A>G , LRG_487t1:c.3982A>G NP_000539.2:p.Arg1328Gly
NM_000548.4:c.3982A>G NP_000539.2:p.Arg1328Gly
NM_001077183.1:c.3781A>G NP_001070651.1:p.Arg1261Gly
NM_001077183.2:c.3781A>G NP_001070651.1:p.Arg1261Gly
NM_001077183.3:c.3781A>G NP_001070651.1:p.Arg1261Gly
NM_001114382.1:c.3913A>G NP_001107854.1:p.Arg1305Gly
NM_001114382.2:c.3913A>G NP_001107854.1:p.Arg1305Gly
NM_001114382.3:c.3913A>G NP_001107854.1:p.Arg1305Gly
NM_001318827.1:c.3673A>G NP_001305756.1:p.Arg1225Gly
NM_001318827.2:c.3673A>G NP_001305756.1:p.Arg1225Gly
NM_001318829.1:c.3637A>G NP_001305758.1:p.Arg1213Gly
NM_001318829.2:c.3637A>G NP_001305758.1:p.Arg1213Gly
NM_001318831.1:c.3250A>G NP_001305760.1:p.Arg1084Gly
NM_001318831.2:c.3250A>G NP_001305760.1:p.Arg1084Gly
NM_001318832.1:c.3814A>G NP_001305761.1:p.Arg1272Gly
NM_001318832.2:c.3814A>G NP_001305761.1:p.Arg1272Gly
NM_001363528.1:c.3784A>G NP_001350457.1:p.Arg1262Gly
NM_001363528.2:c.3784A>G NP_001350457.1:p.Arg1262Gly
NM_001370404.1:c.3850A>G NP_001357333.1:p.Arg1284Gly
NM_001370405.1:c.3853A>G NP_001357334.1:p.Arg1285Gly
NM_021055.2:c.3853A>G NP_066399.2:p.Arg1285Gly
NM_021055.3:c.3853A>G NP_066399.2:p.Arg1285Gly
ENST00000219476.7:c.3982A>G ENSP00000219476.3:p.Arg1328Gly
ENST00000350773.8:c.3913A>G ENSP00000344383.4:p.Arg1305Gly
ENST00000350773.9:c.3913A>G ENSP00000344383.4:p.Arg1305Gly
ENST00000382538.10:c.3637A>G ENSP00000371978.6:p.Arg1213Gly
ENST00000401874.6:c.3781A>G ENSP00000384468.2:p.Arg1261Gly
ENST00000401874.7:c.3781A>G ENSP00000384468.2:p.Arg1261Gly
ENST00000439117.6:c.*3149A>G ENSP00000406980.2:n.*3149A>G
ENST00000439673.6:c.3673A>G ENSP00000399232.2:p.Arg1225Gly
ENST00000497886.5:n.1740A>G
ENST00000568454.5:c.3814A>G ENSP00000454487.1:p.Arg1272Gly
ENST00000568454.6:c.3814A>G ENSP00000454487.1:p.Arg1272Gly
ENST00000568566.6:c.*2331A>G ENSP00000455997.2:n.*2331A>G
ENST00000569110.1:c.164A>G
ENST00000569110.2:c.218A>G
ENST00000569930.1:n.1097A>G
ENST00000569930.2:n.1864A>G
ENST00000642206.2:c.3829A>G ENSP00000495146.2:p.Arg1277Gly
ENST00000642365.1:c.2636A>G
ENST00000642365.2:c.3979A>G ENSP00000495459.2:p.Arg1327Gly
ENST00000642561.1:c.3853A>G ENSP00000495099.1:p.Arg1285Gly
ENST00000642728.1:n.164A>G
ENST00000642797.1:c.3784A>G ENSP00000493846.1:p.Arg1262Gly
ENST00000642936.1:c.3850A>G ENSP00000494514.1:p.Arg1284Gly
ENST00000643088.1:c.3781A>G ENSP00000494747.1:p.Arg1261Gly
ENST00000643426.1:n.1630A>G
ENST00000643533.1:n.423A>G
ENST00000643946.1:c.3913A>G ENSP00000495927.1:p.Arg1305Gly
ENST00000644043.1:c.3853A>G ENSP00000496262.1:p.Arg1285Gly
ENST00000644329.1:c.3781A>G ENSP00000496611.1:p.Arg1261Gly
ENST00000644335.1:c.3784A>G ENSP00000496317.1:p.Arg1262Gly
ENST00000644399.1:c.3903A>G
ENST00000644417.2:c.*4362A>G ENSP00000493912.2:n.*4362A>G
ENST00000645024.1:n.2066A>G
ENST00000645186.1:c.225A>G
ENST00000646388.1:c.3982A>G ENSP00000495921.1:p.Arg1328Gly
ENST00000646464.2:c.*6731A>G ENSP00000496610.2:n.*6731A>G
ENST00000646634.1:n.2797A>G
ENST00000646674.1:n.1234A>G
ENST00000647042.1:n.1205A>G
ENST00000647180.1:n.1095A>G
XM_005255529.3:c.3853A>G XP_005255586.2:p.Arg1285Gly
XM_005255531.3:c.3784A>G XP_005255588.2:p.Arg1262Gly
XM_005255531.4:c.3784A>G XP_005255588.2:p.Arg1262Gly
XM_011522636.1:c.4036A>G XP_011520938.1:p.Arg1346Gly
XM_011522636.2:c.4036A>G XP_011520938.1:p.Arg1346Gly
XM_011522637.1:c.4033A>G XP_011520939.1:p.Arg1345Gly
XM_011522637.2:c.4033A>G XP_011520939.1:p.Arg1345Gly
XM_011522638.1:c.3925A>G XP_011520940.1:p.Arg1309Gly
XM_011522638.2:c.4198A>G XP_011520940.2:p.Arg1400Gly
XM_011522639.1:c.3907A>G XP_011520941.1:p.Arg1303Gly
XM_011522639.2:c.3907A>G XP_011520941.1:p.Arg1303Gly
XM_011522640.1:c.3904A>G XP_011520942.1:p.Arg1302Gly
XM_011522640.2:c.3904A>G XP_011520942.1:p.Arg1302Gly
XM_011522641.1:c.3673A>G XP_011520943.1:p.Arg1225Gly
XM_017023615.1:c.3979A>G XP_016879104.1:p.Arg1327Gly
XM_017023616.1:c.3850A>G XP_016879105.1:p.Arg1284Gly
XM_017023617.1:c.3946A>G XP_016879106.1:p.Arg1316Gly
XM_017023618.1:c.2692A>G XP_016879107.1:p.Arg898Gly
XM_024450413.1:c.3781A>G XP_024306181.1:p.Arg1261Gly