Canonical Allele Identifier: CA394301158
Community Standard Title: NM_000548.5(TSC2):c.4303G>A (p.Glu1435Lys)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084525G>A , CM000678.2:g.2084525G>A GRCh38
NC_000016.9:g.2134526G>A , CM000678.1:g.2134526G>A GRCh37
NC_000016.8:g.2074527G>A NCBI36
NG_005895.1:g.40220G>A , LRG_487:g.40220G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4303G>A MANE Select NP_000539.2:p.Glu1435Lys
ENST00000219476.9:c.4303G>A MANE Select ENSP00000219476.3:p.Glu1435Lys
NM_000548.3:c.4303G>A , LRG_487t1:c.4303G>A NP_000539.2:p.Glu1435Lys
NM_000548.4:c.4303G>A NP_000539.2:p.Glu1435Lys
NM_001077183.1:c.4102G>A NP_001070651.1:p.Glu1368Lys
NM_001077183.2:c.4102G>A NP_001070651.1:p.Glu1368Lys
NM_001077183.3:c.4102G>A NP_001070651.1:p.Glu1368Lys
NM_001114382.1:c.4234G>A NP_001107854.1:p.Glu1412Lys
NM_001114382.2:c.4234G>A NP_001107854.1:p.Glu1412Lys
NM_001114382.3:c.4234G>A NP_001107854.1:p.Glu1412Lys
NM_001318827.1:c.3994G>A NP_001305756.1:p.Glu1332Lys
NM_001318827.2:c.3994G>A NP_001305756.1:p.Glu1332Lys
NM_001318829.1:c.3958G>A NP_001305758.1:p.Glu1320Lys
NM_001318829.2:c.3958G>A NP_001305758.1:p.Glu1320Lys
NM_001318831.1:c.3571G>A NP_001305760.1:p.Glu1191Lys
NM_001318831.2:c.3571G>A NP_001305760.1:p.Glu1191Lys
NM_001318832.1:c.4135G>A NP_001305761.1:p.Glu1379Lys
NM_001318832.2:c.4135G>A NP_001305761.1:p.Glu1379Lys
NM_001363528.1:c.4105G>A NP_001350457.1:p.Glu1369Lys
NM_001363528.2:c.4105G>A NP_001350457.1:p.Glu1369Lys
NM_001370404.1:c.4171G>A NP_001357333.1:p.Glu1391Lys
NM_001370405.1:c.4174G>A NP_001357334.1:p.Glu1392Lys
NM_021055.2:c.4174G>A NP_066399.2:p.Glu1392Lys
NM_021055.3:c.4174G>A NP_066399.2:p.Glu1392Lys
ENST00000219476.7:c.4303G>A ENSP00000219476.3:p.Glu1435Lys
ENST00000350773.8:c.4234G>A ENSP00000344383.4:p.Glu1412Lys
ENST00000350773.9:c.4234G>A ENSP00000344383.4:p.Glu1412Lys
ENST00000382538.10:c.3958G>A ENSP00000371978.6:p.Glu1320Lys
ENST00000401874.6:c.4102G>A ENSP00000384468.2:p.Glu1368Lys
ENST00000401874.7:c.4102G>A ENSP00000384468.2:p.Glu1368Lys
ENST00000439117.6:c.*3470G>A ENSP00000406980.2:n.*3470G>A
ENST00000439673.6:c.3994G>A ENSP00000399232.2:p.Glu1332Lys
ENST00000497886.5:n.2061G>A
ENST00000568454.5:c.4135G>A ENSP00000454487.1:p.Glu1379Lys
ENST00000568454.6:c.4135G>A ENSP00000454487.1:p.Glu1379Lys
ENST00000568566.6:c.*2652G>A ENSP00000455997.2:n.*2652G>A
ENST00000569110.1:c.485G>A
ENST00000569110.2:c.539G>A
ENST00000569930.1:n.1418G>A
ENST00000569930.2:n.2185G>A
ENST00000642206.2:c.4150G>A ENSP00000495146.2:p.Glu1384Lys
ENST00000642365.1:c.2957G>A
ENST00000642365.2:c.4300G>A ENSP00000495459.2:p.Glu1434Lys
ENST00000642561.1:c.4174G>A ENSP00000495099.1:p.Glu1392Lys
ENST00000642728.1:n.485G>A
ENST00000642797.1:c.4105G>A ENSP00000493846.1:p.Glu1369Lys
ENST00000642936.1:c.4171G>A ENSP00000494514.1:p.Glu1391Lys
ENST00000643088.1:c.4102G>A ENSP00000494747.1:p.Glu1368Lys
ENST00000643177.1:n.317G>A
ENST00000643426.1:n.1951G>A
ENST00000643946.1:c.4234G>A ENSP00000495927.1:p.Glu1412Lys
ENST00000644043.1:c.4174G>A ENSP00000496262.1:p.Glu1392Lys
ENST00000644329.1:c.4102G>A ENSP00000496611.1:p.Glu1368Lys
ENST00000644335.1:c.4105G>A ENSP00000496317.1:p.Glu1369Lys
ENST00000644399.1:c.4224G>A
ENST00000644417.2:c.*4683G>A ENSP00000493912.2:n.*4683G>A
ENST00000645024.1:n.2387G>A
ENST00000646388.1:c.4303G>A ENSP00000495921.1:p.Glu1435Lys
ENST00000646464.2:c.*7052G>A ENSP00000496610.2:n.*7052G>A
ENST00000646634.1:n.3118G>A
ENST00000646674.1:n.1555G>A
ENST00000647042.1:n.1526G>A
ENST00000647180.1:n.1416G>A
XM_005255529.3:c.4174G>A XP_005255586.2:p.Glu1392Lys
XM_005255531.3:c.4105G>A XP_005255588.2:p.Glu1369Lys
XM_005255531.4:c.4105G>A XP_005255588.2:p.Glu1369Lys
XM_011522636.1:c.4357G>A XP_011520938.1:p.Glu1453Lys
XM_011522636.2:c.4357G>A XP_011520938.1:p.Glu1453Lys
XM_011522637.1:c.4354G>A XP_011520939.1:p.Glu1452Lys
XM_011522637.2:c.4354G>A XP_011520939.1:p.Glu1452Lys
XM_011522638.1:c.4246G>A XP_011520940.1:p.Glu1416Lys
XM_011522638.2:c.4519G>A XP_011520940.2:p.Glu1507Lys
XM_011522639.1:c.4228G>A XP_011520941.1:p.Glu1410Lys
XM_011522639.2:c.4228G>A XP_011520941.1:p.Glu1410Lys
XM_011522640.1:c.4225G>A XP_011520942.1:p.Glu1409Lys
XM_011522640.2:c.4225G>A XP_011520942.1:p.Glu1409Lys
XM_011522641.1:c.3994G>A XP_011520943.1:p.Glu1332Lys
XM_017023615.1:c.4300G>A XP_016879104.1:p.Glu1434Lys
XM_017023616.1:c.4171G>A XP_016879105.1:p.Glu1391Lys
XM_017023617.1:c.4267G>A XP_016879106.1:p.Glu1423Lys
XM_017023618.1:c.3013G>A XP_016879107.1:p.Glu1005Lys
XM_024450413.1:c.4102G>A XP_024306181.1:p.Glu1368Lys