Canonical Allele Identifier: CA394299330
Community Standard Title: NM_000548.5(TSC2):c.4051G>T (p.Glu1351Ter)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084273G>T , CM000678.2:g.2084273G>T GRCh38
NC_000016.9:g.2134274G>T , CM000678.1:g.2134274G>T GRCh37
NC_000016.8:g.2074275G>T NCBI36
NG_005895.1:g.39968G>T , LRG_487:g.39968G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4051G>T MANE Select NP_000539.2:p.Glu1351Ter
ENST00000219476.9:c.4051G>T MANE Select ENSP00000219476.3:p.Glu1351Ter
NM_000548.3:c.4051G>T , LRG_487t1:c.4051G>T NP_000539.2:p.Glu1351Ter
NM_000548.4:c.4051G>T NP_000539.2:p.Glu1351Ter
NM_001077183.1:c.3850G>T NP_001070651.1:p.Glu1284Ter
NM_001077183.2:c.3850G>T NP_001070651.1:p.Glu1284Ter
NM_001077183.3:c.3850G>T NP_001070651.1:p.Glu1284Ter
NM_001114382.1:c.3982G>T NP_001107854.1:p.Glu1328Ter
NM_001114382.2:c.3982G>T NP_001107854.1:p.Glu1328Ter
NM_001114382.3:c.3982G>T NP_001107854.1:p.Glu1328Ter
NM_001318827.1:c.3742G>T NP_001305756.1:p.Glu1248Ter
NM_001318827.2:c.3742G>T NP_001305756.1:p.Glu1248Ter
NM_001318829.1:c.3706G>T NP_001305758.1:p.Glu1236Ter
NM_001318829.2:c.3706G>T NP_001305758.1:p.Glu1236Ter
NM_001318831.1:c.3319G>T NP_001305760.1:p.Glu1107Ter
NM_001318831.2:c.3319G>T NP_001305760.1:p.Glu1107Ter
NM_001318832.1:c.3883G>T NP_001305761.1:p.Glu1295Ter
NM_001318832.2:c.3883G>T NP_001305761.1:p.Glu1295Ter
NM_001363528.1:c.3853G>T NP_001350457.1:p.Glu1285Ter
NM_001363528.2:c.3853G>T NP_001350457.1:p.Glu1285Ter
NM_001370404.1:c.3919G>T NP_001357333.1:p.Glu1307Ter
NM_001370405.1:c.3922G>T NP_001357334.1:p.Glu1308Ter
NM_021055.2:c.3922G>T NP_066399.2:p.Glu1308Ter
NM_021055.3:c.3922G>T NP_066399.2:p.Glu1308Ter
ENST00000219476.7:c.4051G>T ENSP00000219476.3:p.Glu1351Ter
ENST00000350773.8:c.3982G>T ENSP00000344383.4:p.Glu1328Ter
ENST00000350773.9:c.3982G>T ENSP00000344383.4:p.Glu1328Ter
ENST00000382538.10:c.3706G>T ENSP00000371978.6:p.Glu1236Ter
ENST00000401874.6:c.3850G>T ENSP00000384468.2:p.Glu1284Ter
ENST00000401874.7:c.3850G>T ENSP00000384468.2:p.Glu1284Ter
ENST00000439117.6:c.*3218G>T ENSP00000406980.2:n.*3218G>T
ENST00000439673.6:c.3742G>T ENSP00000399232.2:p.Glu1248Ter
ENST00000497886.5:n.1809G>T
ENST00000568454.5:c.3883G>T ENSP00000454487.1:p.Glu1295Ter
ENST00000568454.6:c.3883G>T ENSP00000454487.1:p.Glu1295Ter
ENST00000568566.6:c.*2400G>T ENSP00000455997.2:n.*2400G>T
ENST00000569110.1:c.233G>T
ENST00000569110.2:c.287G>T
ENST00000569930.1:n.1166G>T
ENST00000569930.2:n.1933G>T
ENST00000642206.2:c.3898G>T ENSP00000495146.2:p.Glu1300Ter
ENST00000642365.1:c.2705G>T
ENST00000642365.2:c.4048G>T ENSP00000495459.2:p.Glu1350Ter
ENST00000642561.1:c.3922G>T ENSP00000495099.1:p.Glu1308Ter
ENST00000642728.1:n.233G>T
ENST00000642797.1:c.3853G>T ENSP00000493846.1:p.Glu1285Ter
ENST00000642936.1:c.3919G>T ENSP00000494514.1:p.Glu1307Ter
ENST00000643088.1:c.3850G>T ENSP00000494747.1:p.Glu1284Ter
ENST00000643177.1:n.65G>T
ENST00000643426.1:n.1699G>T
ENST00000643533.1:n.492G>T
ENST00000643946.1:c.3982G>T ENSP00000495927.1:p.Glu1328Ter
ENST00000644043.1:c.3922G>T ENSP00000496262.1:p.Glu1308Ter
ENST00000644329.1:c.3850G>T ENSP00000496611.1:p.Glu1284Ter
ENST00000644335.1:c.3853G>T ENSP00000496317.1:p.Glu1285Ter
ENST00000644399.1:c.3972G>T
ENST00000644417.2:c.*4431G>T ENSP00000493912.2:n.*4431G>T
ENST00000645024.1:n.2135G>T
ENST00000645186.1:c.294G>T
ENST00000646388.1:c.4051G>T ENSP00000495921.1:p.Glu1351Ter
ENST00000646464.2:c.*6800G>T ENSP00000496610.2:n.*6800G>T
ENST00000646634.1:n.2866G>T
ENST00000646674.1:n.1303G>T
ENST00000647042.1:n.1274G>T
ENST00000647180.1:n.1164G>T
XM_005255529.3:c.3922G>T XP_005255586.2:p.Glu1308Ter
XM_005255531.3:c.3853G>T XP_005255588.2:p.Glu1285Ter
XM_005255531.4:c.3853G>T XP_005255588.2:p.Glu1285Ter
XM_011522636.1:c.4105G>T XP_011520938.1:p.Glu1369Ter
XM_011522636.2:c.4105G>T XP_011520938.1:p.Glu1369Ter
XM_011522637.1:c.4102G>T XP_011520939.1:p.Glu1368Ter
XM_011522637.2:c.4102G>T XP_011520939.1:p.Glu1368Ter
XM_011522638.1:c.3994G>T XP_011520940.1:p.Glu1332Ter
XM_011522638.2:c.4267G>T XP_011520940.2:p.Glu1423Ter
XM_011522639.1:c.3976G>T XP_011520941.1:p.Glu1326Ter
XM_011522639.2:c.3976G>T XP_011520941.1:p.Glu1326Ter
XM_011522640.1:c.3973G>T XP_011520942.1:p.Glu1325Ter
XM_011522640.2:c.3973G>T XP_011520942.1:p.Glu1325Ter
XM_011522641.1:c.3742G>T XP_011520943.1:p.Glu1248Ter
XM_017023615.1:c.4048G>T XP_016879104.1:p.Glu1350Ter
XM_017023616.1:c.3919G>T XP_016879105.1:p.Glu1307Ter
XM_017023617.1:c.4015G>T XP_016879106.1:p.Glu1339Ter
XM_017023618.1:c.2761G>T XP_016879107.1:p.Glu921Ter
XM_024450413.1:c.3850G>T XP_024306181.1:p.Glu1284Ter