Canonical Allele Identifier: CA050758
Community Standard Title: NM_000548.5(TSC2):c.4282G>A (p.Ala1428Thr)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084504G>A , CM000678.2:g.2084504G>A GRCh38
NC_000016.9:g.2134505G>A , CM000678.1:g.2134505G>A GRCh37
NC_000016.8:g.2074506G>A NCBI36
NG_005895.1:g.40199G>A , LRG_487:g.40199G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4282G>A MANE Select NP_000539.2:p.Ala1428Thr
ENST00000219476.9:c.4282G>A MANE Select ENSP00000219476.3:p.Ala1428Thr
NM_000548.3:c.4282G>A , LRG_487t1:c.4282G>A NP_000539.2:p.Ala1428Thr
NM_000548.4:c.4282G>A NP_000539.2:p.Ala1428Thr
NM_001077183.1:c.4081G>A NP_001070651.1:p.Ala1361Thr
NM_001077183.2:c.4081G>A NP_001070651.1:p.Ala1361Thr
NM_001077183.3:c.4081G>A NP_001070651.1:p.Ala1361Thr
NM_001114382.1:c.4213G>A NP_001107854.1:p.Ala1405Thr
NM_001114382.2:c.4213G>A NP_001107854.1:p.Ala1405Thr
NM_001114382.3:c.4213G>A NP_001107854.1:p.Ala1405Thr
NM_001318827.1:c.3973G>A NP_001305756.1:p.Ala1325Thr
NM_001318827.2:c.3973G>A NP_001305756.1:p.Ala1325Thr
NM_001318829.1:c.3937G>A NP_001305758.1:p.Ala1313Thr
NM_001318829.2:c.3937G>A NP_001305758.1:p.Ala1313Thr
NM_001318831.1:c.3550G>A NP_001305760.1:p.Ala1184Thr
NM_001318831.2:c.3550G>A NP_001305760.1:p.Ala1184Thr
NM_001318832.1:c.4114G>A NP_001305761.1:p.Ala1372Thr
NM_001318832.2:c.4114G>A NP_001305761.1:p.Ala1372Thr
NM_001363528.1:c.4084G>A NP_001350457.1:p.Ala1362Thr
NM_001363528.2:c.4084G>A NP_001350457.1:p.Ala1362Thr
NM_001370404.1:c.4150G>A NP_001357333.1:p.Ala1384Thr
NM_001370405.1:c.4153G>A NP_001357334.1:p.Ala1385Thr
NM_021055.2:c.4153G>A NP_066399.2:p.Ala1385Thr
NM_021055.3:c.4153G>A NP_066399.2:p.Ala1385Thr
ENST00000219476.7:c.4282G>A ENSP00000219476.3:p.Ala1428Thr
ENST00000350773.8:c.4213G>A ENSP00000344383.4:p.Ala1405Thr
ENST00000350773.9:c.4213G>A ENSP00000344383.4:p.Ala1405Thr
ENST00000382538.10:c.3937G>A ENSP00000371978.6:p.Ala1313Thr
ENST00000401874.6:c.4081G>A ENSP00000384468.2:p.Ala1361Thr
ENST00000401874.7:c.4081G>A ENSP00000384468.2:p.Ala1361Thr
ENST00000439117.6:c.*3449G>A ENSP00000406980.2:n.*3449G>A
ENST00000439673.6:c.3973G>A ENSP00000399232.2:p.Ala1325Thr
ENST00000497886.5:n.2040G>A
ENST00000568454.5:c.4114G>A ENSP00000454487.1:p.Ala1372Thr
ENST00000568454.6:c.4114G>A ENSP00000454487.1:p.Ala1372Thr
ENST00000568566.6:c.*2631G>A ENSP00000455997.2:n.*2631G>A
ENST00000569110.1:c.464G>A
ENST00000569110.2:c.518G>A
ENST00000569930.1:n.1397G>A
ENST00000569930.2:n.2164G>A
ENST00000642206.2:c.4129G>A ENSP00000495146.2:p.Ala1377Thr
ENST00000642365.1:c.2936G>A
ENST00000642365.2:c.4279G>A ENSP00000495459.2:p.Ala1427Thr
ENST00000642561.1:c.4153G>A ENSP00000495099.1:p.Ala1385Thr
ENST00000642728.1:n.464G>A
ENST00000642797.1:c.4084G>A ENSP00000493846.1:p.Ala1362Thr
ENST00000642936.1:c.4150G>A ENSP00000494514.1:p.Ala1384Thr
ENST00000643088.1:c.4081G>A ENSP00000494747.1:p.Ala1361Thr
ENST00000643177.1:n.296G>A
ENST00000643426.1:n.1930G>A
ENST00000643946.1:c.4213G>A ENSP00000495927.1:p.Ala1405Thr
ENST00000644043.1:c.4153G>A ENSP00000496262.1:p.Ala1385Thr
ENST00000644329.1:c.4081G>A ENSP00000496611.1:p.Ala1361Thr
ENST00000644335.1:c.4084G>A ENSP00000496317.1:p.Ala1362Thr
ENST00000644399.1:c.4203G>A
ENST00000644417.2:c.*4662G>A ENSP00000493912.2:n.*4662G>A
ENST00000645024.1:n.2366G>A
ENST00000645186.1:c.525G>A
ENST00000646388.1:c.4282G>A ENSP00000495921.1:p.Ala1428Thr
ENST00000646464.2:c.*7031G>A ENSP00000496610.2:n.*7031G>A
ENST00000646634.1:n.3097G>A
ENST00000646674.1:n.1534G>A
ENST00000647042.1:n.1505G>A
ENST00000647180.1:n.1395G>A
XM_005255529.3:c.4153G>A XP_005255586.2:p.Ala1385Thr
XM_005255531.3:c.4084G>A XP_005255588.2:p.Ala1362Thr
XM_005255531.4:c.4084G>A XP_005255588.2:p.Ala1362Thr
XM_011522636.1:c.4336G>A XP_011520938.1:p.Ala1446Thr
XM_011522636.2:c.4336G>A XP_011520938.1:p.Ala1446Thr
XM_011522637.1:c.4333G>A XP_011520939.1:p.Ala1445Thr
XM_011522637.2:c.4333G>A XP_011520939.1:p.Ala1445Thr
XM_011522638.1:c.4225G>A XP_011520940.1:p.Ala1409Thr
XM_011522638.2:c.4498G>A XP_011520940.2:p.Ala1500Thr
XM_011522639.1:c.4207G>A XP_011520941.1:p.Ala1403Thr
XM_011522639.2:c.4207G>A XP_011520941.1:p.Ala1403Thr
XM_011522640.1:c.4204G>A XP_011520942.1:p.Ala1402Thr
XM_011522640.2:c.4204G>A XP_011520942.1:p.Ala1402Thr
XM_011522641.1:c.3973G>A XP_011520943.1:p.Ala1325Thr
XM_017023615.1:c.4279G>A XP_016879104.1:p.Ala1427Thr
XM_017023616.1:c.4150G>A XP_016879105.1:p.Ala1384Thr
XM_017023617.1:c.4246G>A XP_016879106.1:p.Ala1416Thr
XM_017023618.1:c.2992G>A XP_016879107.1:p.Ala998Thr
XM_024450413.1:c.4081G>A XP_024306181.1:p.Ala1361Thr