Canonical Allele Identifier: CA394300437
Community Standard Title: NM_000548.5(TSC2):c.4250G>A (p.Arg1417Gln)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084472G>A , CM000678.2:g.2084472G>A GRCh38
NC_000016.9:g.2134473G>A , CM000678.1:g.2134473G>A GRCh37
NC_000016.8:g.2074474G>A NCBI36
NG_005895.1:g.40167G>A , LRG_487:g.40167G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4250G>A MANE Select NP_000539.2:p.Arg1417Gln
ENST00000219476.9:c.4250G>A MANE Select ENSP00000219476.3:p.Arg1417Gln
NM_000548.3:c.4250G>A , LRG_487t1:c.4250G>A NP_000539.2:p.Arg1417Gln
NM_000548.4:c.4250G>A NP_000539.2:p.Arg1417Gln
NM_001077183.1:c.4049G>A NP_001070651.1:p.Arg1350Gln
NM_001077183.2:c.4049G>A NP_001070651.1:p.Arg1350Gln
NM_001077183.3:c.4049G>A NP_001070651.1:p.Arg1350Gln
NM_001114382.1:c.4181G>A NP_001107854.1:p.Arg1394Gln
NM_001114382.2:c.4181G>A NP_001107854.1:p.Arg1394Gln
NM_001114382.3:c.4181G>A NP_001107854.1:p.Arg1394Gln
NM_001318827.1:c.3941G>A NP_001305756.1:p.Arg1314Gln
NM_001318827.2:c.3941G>A NP_001305756.1:p.Arg1314Gln
NM_001318829.1:c.3905G>A NP_001305758.1:p.Arg1302Gln
NM_001318829.2:c.3905G>A NP_001305758.1:p.Arg1302Gln
NM_001318831.1:c.3518G>A NP_001305760.1:p.Arg1173Gln
NM_001318831.2:c.3518G>A NP_001305760.1:p.Arg1173Gln
NM_001318832.1:c.4082G>A NP_001305761.1:p.Arg1361Gln
NM_001318832.2:c.4082G>A NP_001305761.1:p.Arg1361Gln
NM_001363528.1:c.4052G>A NP_001350457.1:p.Arg1351Gln
NM_001363528.2:c.4052G>A NP_001350457.1:p.Arg1351Gln
NM_001370404.1:c.4118G>A NP_001357333.1:p.Arg1373Gln
NM_001370405.1:c.4121G>A NP_001357334.1:p.Arg1374Gln
NM_021055.2:c.4121G>A NP_066399.2:p.Arg1374Gln
NM_021055.3:c.4121G>A NP_066399.2:p.Arg1374Gln
ENST00000219476.7:c.4250G>A ENSP00000219476.3:p.Arg1417Gln
ENST00000350773.8:c.4181G>A ENSP00000344383.4:p.Arg1394Gln
ENST00000350773.9:c.4181G>A ENSP00000344383.4:p.Arg1394Gln
ENST00000382538.10:c.3905G>A ENSP00000371978.6:p.Arg1302Gln
ENST00000401874.6:c.4049G>A ENSP00000384468.2:p.Arg1350Gln
ENST00000401874.7:c.4049G>A ENSP00000384468.2:p.Arg1350Gln
ENST00000439117.6:c.*3417G>A ENSP00000406980.2:n.*3417G>A
ENST00000439673.6:c.3941G>A ENSP00000399232.2:p.Arg1314Gln
ENST00000497886.5:n.2008G>A
ENST00000568454.5:c.4082G>A ENSP00000454487.1:p.Arg1361Gln
ENST00000568454.6:c.4082G>A ENSP00000454487.1:p.Arg1361Gln
ENST00000568566.6:c.*2599G>A ENSP00000455997.2:n.*2599G>A
ENST00000569110.1:c.432G>A
ENST00000569110.2:c.486G>A
ENST00000569930.1:n.1365G>A
ENST00000569930.2:n.2132G>A
ENST00000642206.2:c.4097G>A ENSP00000495146.2:p.Arg1366Gln
ENST00000642365.1:c.2904G>A
ENST00000642365.2:c.4247G>A ENSP00000495459.2:p.Arg1416Gln
ENST00000642561.1:c.4121G>A ENSP00000495099.1:p.Arg1374Gln
ENST00000642728.1:n.432G>A
ENST00000642797.1:c.4052G>A ENSP00000493846.1:p.Arg1351Gln
ENST00000642936.1:c.4118G>A ENSP00000494514.1:p.Arg1373Gln
ENST00000643088.1:c.4049G>A ENSP00000494747.1:p.Arg1350Gln
ENST00000643177.1:n.264G>A
ENST00000643426.1:n.1898G>A
ENST00000643946.1:c.4181G>A ENSP00000495927.1:p.Arg1394Gln
ENST00000644043.1:c.4121G>A ENSP00000496262.1:p.Arg1374Gln
ENST00000644329.1:c.4049G>A ENSP00000496611.1:p.Arg1350Gln
ENST00000644335.1:c.4052G>A ENSP00000496317.1:p.Arg1351Gln
ENST00000644399.1:c.4171G>A
ENST00000644417.2:c.*4630G>A ENSP00000493912.2:n.*4630G>A
ENST00000645024.1:n.2334G>A
ENST00000645186.1:c.493G>A
ENST00000646388.1:c.4250G>A ENSP00000495921.1:p.Arg1417Gln
ENST00000646464.2:c.*6999G>A ENSP00000496610.2:n.*6999G>A
ENST00000646634.1:n.3065G>A
ENST00000646674.1:n.1502G>A
ENST00000647042.1:n.1473G>A
ENST00000647180.1:n.1363G>A
XM_005255529.3:c.4121G>A XP_005255586.2:p.Arg1374Gln
XM_005255531.3:c.4052G>A XP_005255588.2:p.Arg1351Gln
XM_005255531.4:c.4052G>A XP_005255588.2:p.Arg1351Gln
XM_011522636.1:c.4304G>A XP_011520938.1:p.Arg1435Gln
XM_011522636.2:c.4304G>A XP_011520938.1:p.Arg1435Gln
XM_011522637.1:c.4301G>A XP_011520939.1:p.Arg1434Gln
XM_011522637.2:c.4301G>A XP_011520939.1:p.Arg1434Gln
XM_011522638.1:c.4193G>A XP_011520940.1:p.Arg1398Gln
XM_011522638.2:c.4466G>A XP_011520940.2:p.Arg1489Gln
XM_011522639.1:c.4175G>A XP_011520941.1:p.Arg1392Gln
XM_011522639.2:c.4175G>A XP_011520941.1:p.Arg1392Gln
XM_011522640.1:c.4172G>A XP_011520942.1:p.Arg1391Gln
XM_011522640.2:c.4172G>A XP_011520942.1:p.Arg1391Gln
XM_011522641.1:c.3941G>A XP_011520943.1:p.Arg1314Gln
XM_017023615.1:c.4247G>A XP_016879104.1:p.Arg1416Gln
XM_017023616.1:c.4118G>A XP_016879105.1:p.Arg1373Gln
XM_017023617.1:c.4214G>A XP_016879106.1:p.Arg1405Gln
XM_017023618.1:c.2960G>A XP_016879107.1:p.Arg987Gln
XM_024450413.1:c.4049G>A XP_024306181.1:p.Arg1350Gln