Canonical Allele Identifier: CA276753373
Community Standard Title: NM_000548.5(TSC2):c.4246G>T (p.Ala1416Ser)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084468G>T , CM000678.2:g.2084468G>T GRCh38
NC_000016.9:g.2134469G>T , CM000678.1:g.2134469G>T GRCh37
NC_000016.8:g.2074470G>T NCBI36
NG_005895.1:g.40163G>T , LRG_487:g.40163G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4246G>T MANE Select NP_000539.2:p.Ala1416Ser
ENST00000219476.9:c.4246G>T MANE Select ENSP00000219476.3:p.Ala1416Ser
NM_000548.3:c.4246G>T , LRG_487t1:c.4246G>T NP_000539.2:p.Ala1416Ser
NM_000548.4:c.4246G>T NP_000539.2:p.Ala1416Ser
NM_001077183.1:c.4045G>T NP_001070651.1:p.Ala1349Ser
NM_001077183.2:c.4045G>T NP_001070651.1:p.Ala1349Ser
NM_001077183.3:c.4045G>T NP_001070651.1:p.Ala1349Ser
NM_001114382.1:c.4177G>T NP_001107854.1:p.Ala1393Ser
NM_001114382.2:c.4177G>T NP_001107854.1:p.Ala1393Ser
NM_001114382.3:c.4177G>T NP_001107854.1:p.Ala1393Ser
NM_001318827.1:c.3937G>T NP_001305756.1:p.Ala1313Ser
NM_001318827.2:c.3937G>T NP_001305756.1:p.Ala1313Ser
NM_001318829.1:c.3901G>T NP_001305758.1:p.Ala1301Ser
NM_001318829.2:c.3901G>T NP_001305758.1:p.Ala1301Ser
NM_001318831.1:c.3514G>T NP_001305760.1:p.Ala1172Ser
NM_001318831.2:c.3514G>T NP_001305760.1:p.Ala1172Ser
NM_001318832.1:c.4078G>T NP_001305761.1:p.Ala1360Ser
NM_001318832.2:c.4078G>T NP_001305761.1:p.Ala1360Ser
NM_001363528.1:c.4048G>T NP_001350457.1:p.Ala1350Ser
NM_001363528.2:c.4048G>T NP_001350457.1:p.Ala1350Ser
NM_001370404.1:c.4114G>T NP_001357333.1:p.Ala1372Ser
NM_001370405.1:c.4117G>T NP_001357334.1:p.Ala1373Ser
NM_021055.2:c.4117G>T NP_066399.2:p.Ala1373Ser
NM_021055.3:c.4117G>T NP_066399.2:p.Ala1373Ser
ENST00000219476.7:c.4246G>T ENSP00000219476.3:p.Ala1416Ser
ENST00000350773.8:c.4177G>T ENSP00000344383.4:p.Ala1393Ser
ENST00000350773.9:c.4177G>T ENSP00000344383.4:p.Ala1393Ser
ENST00000382538.10:c.3901G>T ENSP00000371978.6:p.Ala1301Ser
ENST00000401874.6:c.4045G>T ENSP00000384468.2:p.Ala1349Ser
ENST00000401874.7:c.4045G>T ENSP00000384468.2:p.Ala1349Ser
ENST00000439117.6:c.*3413G>T ENSP00000406980.2:n.*3413G>T
ENST00000439673.6:c.3937G>T ENSP00000399232.2:p.Ala1313Ser
ENST00000497886.5:n.2004G>T
ENST00000568454.5:c.4078G>T ENSP00000454487.1:p.Ala1360Ser
ENST00000568454.6:c.4078G>T ENSP00000454487.1:p.Ala1360Ser
ENST00000568566.6:c.*2595G>T ENSP00000455997.2:n.*2595G>T
ENST00000569110.1:c.428G>T
ENST00000569110.2:c.482G>T
ENST00000569930.1:n.1361G>T
ENST00000569930.2:n.2128G>T
ENST00000642206.2:c.4093G>T ENSP00000495146.2:p.Ala1365Ser
ENST00000642365.1:c.2900G>T
ENST00000642365.2:c.4243G>T ENSP00000495459.2:p.Ala1415Ser
ENST00000642561.1:c.4117G>T ENSP00000495099.1:p.Ala1373Ser
ENST00000642728.1:n.428G>T
ENST00000642797.1:c.4048G>T ENSP00000493846.1:p.Ala1350Ser
ENST00000642936.1:c.4114G>T ENSP00000494514.1:p.Ala1372Ser
ENST00000643088.1:c.4045G>T ENSP00000494747.1:p.Ala1349Ser
ENST00000643177.1:n.260G>T
ENST00000643426.1:n.1894G>T
ENST00000643946.1:c.4177G>T ENSP00000495927.1:p.Ala1393Ser
ENST00000644043.1:c.4117G>T ENSP00000496262.1:p.Ala1373Ser
ENST00000644329.1:c.4045G>T ENSP00000496611.1:p.Ala1349Ser
ENST00000644335.1:c.4048G>T ENSP00000496317.1:p.Ala1350Ser
ENST00000644399.1:c.4167G>T
ENST00000644417.2:c.*4626G>T ENSP00000493912.2:n.*4626G>T
ENST00000645024.1:n.2330G>T
ENST00000645186.1:c.489G>T
ENST00000646388.1:c.4246G>T ENSP00000495921.1:p.Ala1416Ser
ENST00000646464.2:c.*6995G>T ENSP00000496610.2:n.*6995G>T
ENST00000646634.1:n.3061G>T
ENST00000646674.1:n.1498G>T
ENST00000647042.1:n.1469G>T
ENST00000647180.1:n.1359G>T
XM_005255529.3:c.4117G>T XP_005255586.2:p.Ala1373Ser
XM_005255531.3:c.4048G>T XP_005255588.2:p.Ala1350Ser
XM_005255531.4:c.4048G>T XP_005255588.2:p.Ala1350Ser
XM_011522636.1:c.4300G>T XP_011520938.1:p.Ala1434Ser
XM_011522636.2:c.4300G>T XP_011520938.1:p.Ala1434Ser
XM_011522637.1:c.4297G>T XP_011520939.1:p.Ala1433Ser
XM_011522637.2:c.4297G>T XP_011520939.1:p.Ala1433Ser
XM_011522638.1:c.4189G>T XP_011520940.1:p.Ala1397Ser
XM_011522638.2:c.4462G>T XP_011520940.2:p.Ala1488Ser
XM_011522639.1:c.4171G>T XP_011520941.1:p.Ala1391Ser
XM_011522639.2:c.4171G>T XP_011520941.1:p.Ala1391Ser
XM_011522640.1:c.4168G>T XP_011520942.1:p.Ala1390Ser
XM_011522640.2:c.4168G>T XP_011520942.1:p.Ala1390Ser
XM_011522641.1:c.3937G>T XP_011520943.1:p.Ala1313Ser
XM_017023615.1:c.4243G>T XP_016879104.1:p.Ala1415Ser
XM_017023616.1:c.4114G>T XP_016879105.1:p.Ala1372Ser
XM_017023617.1:c.4210G>T XP_016879106.1:p.Ala1404Ser
XM_017023618.1:c.2956G>T XP_016879107.1:p.Ala986Ser
XM_024450413.1:c.4045G>T XP_024306181.1:p.Ala1349Ser