Canonical Allele Identifier: CA394304851
Community Standard Title: NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085288A>G , CM000678.2:g.2085288A>G GRCh38
NC_000016.9:g.2135289A>G , CM000678.1:g.2135289A>G GRCh37
NC_000016.8:g.2075290A>G NCBI36
NG_005895.1:g.40983A>G , LRG_487:g.40983A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4628A>G MANE Select NP_000539.2:p.His1543Arg
ENST00000219476.9:c.4628A>G MANE Select ENSP00000219476.3:p.His1543Arg
NM_000548.3:c.4628A>G , LRG_487t1:c.4628A>G NP_000539.2:p.His1543Arg
NM_000548.4:c.4628A>G NP_000539.2:p.His1543Arg
NM_001077183.1:c.4427A>G NP_001070651.1:p.His1476Arg
NM_001077183.2:c.4427A>G NP_001070651.1:p.His1476Arg
NM_001077183.3:c.4427A>G NP_001070651.1:p.His1476Arg
NM_001114382.1:c.4559A>G NP_001107854.1:p.His1520Arg
NM_001114382.2:c.4559A>G NP_001107854.1:p.His1520Arg
NM_001114382.3:c.4559A>G NP_001107854.1:p.His1520Arg
NM_001318827.1:c.4319A>G NP_001305756.1:p.His1440Arg
NM_001318827.2:c.4319A>G NP_001305756.1:p.His1440Arg
NM_001318829.1:c.4283A>G NP_001305758.1:p.His1428Arg
NM_001318829.2:c.4283A>G NP_001305758.1:p.His1428Arg
NM_001318831.1:c.3896A>G NP_001305760.1:p.His1299Arg
NM_001318831.2:c.3896A>G NP_001305760.1:p.His1299Arg
NM_001318832.1:c.4460A>G NP_001305761.1:p.His1487Arg
NM_001318832.2:c.4460A>G NP_001305761.1:p.His1487Arg
NM_001363528.1:c.4430A>G NP_001350457.1:p.His1477Arg
NM_001363528.2:c.4430A>G NP_001350457.1:p.His1477Arg
NM_001370404.1:c.4496A>G NP_001357333.1:p.His1499Arg
NM_001370405.1:c.4499A>G NP_001357334.1:p.His1500Arg
NM_021055.2:c.4499A>G NP_066399.2:p.His1500Arg
NM_021055.3:c.4499A>G NP_066399.2:p.His1500Arg
ENST00000219476.7:c.4628A>G ENSP00000219476.3:p.His1543Arg
ENST00000350773.8:c.4559A>G ENSP00000344383.4:p.His1520Arg
ENST00000350773.9:c.4559A>G ENSP00000344383.4:p.His1520Arg
ENST00000382538.10:c.4283A>G ENSP00000371978.6:p.His1428Arg
ENST00000401874.6:c.4427A>G ENSP00000384468.2:p.His1476Arg
ENST00000401874.7:c.4427A>G ENSP00000384468.2:p.His1476Arg
ENST00000439117.6:c.*3795A>G ENSP00000406980.2:n.*3795A>G
ENST00000439673.6:c.4319A>G ENSP00000399232.2:p.His1440Arg
ENST00000497886.5:n.2386A>G
ENST00000568454.5:c.4460A>G ENSP00000454487.1:p.His1487Arg
ENST00000568454.6:c.4460A>G ENSP00000454487.1:p.His1487Arg
ENST00000568566.6:c.*2977A>G ENSP00000455997.2:n.*2977A>G
ENST00000569110.1:c.810A>G
ENST00000569110.2:c.851A>G
ENST00000569930.1:n.1743A>G
ENST00000569930.2:n.2510A>G
ENST00000642206.2:c.4475A>G ENSP00000495146.2:p.His1492Arg
ENST00000642365.1:c.3282A>G
ENST00000642365.2:c.4625A>G ENSP00000495459.2:p.His1542Arg
ENST00000642561.1:c.4499A>G ENSP00000495099.1:p.His1500Arg
ENST00000642728.1:n.810A>G
ENST00000642791.1:n.225A>G
ENST00000642797.1:c.4430A>G ENSP00000493846.1:p.His1477Arg
ENST00000642936.1:c.4496A>G ENSP00000494514.1:p.His1499Arg
ENST00000643088.1:c.4421A>G ENSP00000494747.1:p.His1474Arg
ENST00000643177.1:n.642A>G
ENST00000643426.1:n.2276A>G
ENST00000643946.1:c.4553A>G ENSP00000495927.1:p.His1518Arg
ENST00000644043.1:c.4499A>G ENSP00000496262.1:p.His1500Arg
ENST00000644278.1:n.110A>G
ENST00000644329.1:c.4427A>G ENSP00000496611.1:p.His1476Arg
ENST00000644335.1:c.4424A>G ENSP00000496317.1:p.His1475Arg
ENST00000644399.1:c.4549A>G
ENST00000644417.2:c.*5008A>G ENSP00000493912.2:n.*5008A>G
ENST00000645024.1:n.2712A>G
ENST00000646388.1:c.4622A>G ENSP00000495921.1:p.His1541Arg
ENST00000646464.2:c.*7377A>G ENSP00000496610.2:n.*7377A>G
ENST00000646634.1:n.3443A>G
ENST00000646674.1:n.1880A>G
ENST00000647042.1:n.1851A>G
ENST00000647180.1:n.1741A>G
XM_005255529.3:c.4499A>G XP_005255586.2:p.His1500Arg
XM_005255531.3:c.4430A>G XP_005255588.2:p.His1477Arg
XM_005255531.4:c.4430A>G XP_005255588.2:p.His1477Arg
XM_011522636.1:c.4682A>G XP_011520938.1:p.His1561Arg
XM_011522636.2:c.4682A>G XP_011520938.1:p.His1561Arg
XM_011522637.1:c.4679A>G XP_011520939.1:p.His1560Arg
XM_011522637.2:c.4679A>G XP_011520939.1:p.His1560Arg
XM_011522638.1:c.4571A>G XP_011520940.1:p.His1524Arg
XM_011522638.2:c.4844A>G XP_011520940.2:p.His1615Arg
XM_011522639.1:c.4553A>G XP_011520941.1:p.His1518Arg
XM_011522639.2:c.4553A>G XP_011520941.1:p.His1518Arg
XM_011522640.1:c.4550A>G XP_011520942.1:p.His1517Arg
XM_011522640.2:c.4550A>G XP_011520942.1:p.His1517Arg
XM_011522641.1:c.4319A>G XP_011520943.1:p.His1440Arg
XM_017023615.1:c.4625A>G XP_016879104.1:p.His1542Arg
XM_017023616.1:c.4496A>G XP_016879105.1:p.His1499Arg
XM_017023617.1:c.4592A>G XP_016879106.1:p.His1531Arg
XM_017023618.1:c.3338A>G XP_016879107.1:p.His1113Arg
XM_024450413.1:c.4427A>G XP_024306181.1:p.His1476Arg