Canonical Allele Identifier: CA394300822
Community Standard Title: NM_000548.5(TSC2):c.4279A>G (p.Ser1427Gly)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084501A>G , CM000678.2:g.2084501A>G GRCh38
NC_000016.9:g.2134502A>G , CM000678.1:g.2134502A>G GRCh37
NC_000016.8:g.2074503A>G NCBI36
NG_005895.1:g.40196A>G , LRG_487:g.40196A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4279A>G MANE Select NP_000539.2:p.Ser1427Gly
ENST00000219476.9:c.4279A>G MANE Select ENSP00000219476.3:p.Ser1427Gly
NM_000548.3:c.4279A>G , LRG_487t1:c.4279A>G NP_000539.2:p.Ser1427Gly
NM_000548.4:c.4279A>G NP_000539.2:p.Ser1427Gly
NM_001077183.1:c.4078A>G NP_001070651.1:p.Ser1360Gly
NM_001077183.2:c.4078A>G NP_001070651.1:p.Ser1360Gly
NM_001077183.3:c.4078A>G NP_001070651.1:p.Ser1360Gly
NM_001114382.1:c.4210A>G NP_001107854.1:p.Ser1404Gly
NM_001114382.2:c.4210A>G NP_001107854.1:p.Ser1404Gly
NM_001114382.3:c.4210A>G NP_001107854.1:p.Ser1404Gly
NM_001318827.1:c.3970A>G NP_001305756.1:p.Ser1324Gly
NM_001318827.2:c.3970A>G NP_001305756.1:p.Ser1324Gly
NM_001318829.1:c.3934A>G NP_001305758.1:p.Ser1312Gly
NM_001318829.2:c.3934A>G NP_001305758.1:p.Ser1312Gly
NM_001318831.1:c.3547A>G NP_001305760.1:p.Ser1183Gly
NM_001318831.2:c.3547A>G NP_001305760.1:p.Ser1183Gly
NM_001318832.1:c.4111A>G NP_001305761.1:p.Ser1371Gly
NM_001318832.2:c.4111A>G NP_001305761.1:p.Ser1371Gly
NM_001363528.1:c.4081A>G NP_001350457.1:p.Ser1361Gly
NM_001363528.2:c.4081A>G NP_001350457.1:p.Ser1361Gly
NM_001370404.1:c.4147A>G NP_001357333.1:p.Ser1383Gly
NM_001370405.1:c.4150A>G NP_001357334.1:p.Ser1384Gly
NM_021055.2:c.4150A>G NP_066399.2:p.Ser1384Gly
NM_021055.3:c.4150A>G NP_066399.2:p.Ser1384Gly
ENST00000219476.7:c.4279A>G ENSP00000219476.3:p.Ser1427Gly
ENST00000350773.8:c.4210A>G ENSP00000344383.4:p.Ser1404Gly
ENST00000350773.9:c.4210A>G ENSP00000344383.4:p.Ser1404Gly
ENST00000382538.10:c.3934A>G ENSP00000371978.6:p.Ser1312Gly
ENST00000401874.6:c.4078A>G ENSP00000384468.2:p.Ser1360Gly
ENST00000401874.7:c.4078A>G ENSP00000384468.2:p.Ser1360Gly
ENST00000439117.6:c.*3446A>G ENSP00000406980.2:n.*3446A>G
ENST00000439673.6:c.3970A>G ENSP00000399232.2:p.Ser1324Gly
ENST00000497886.5:n.2037A>G
ENST00000568454.5:c.4111A>G ENSP00000454487.1:p.Ser1371Gly
ENST00000568454.6:c.4111A>G ENSP00000454487.1:p.Ser1371Gly
ENST00000568566.6:c.*2628A>G ENSP00000455997.2:n.*2628A>G
ENST00000569110.1:c.461A>G
ENST00000569110.2:c.515A>G
ENST00000569930.1:n.1394A>G
ENST00000569930.2:n.2161A>G
ENST00000642206.2:c.4126A>G ENSP00000495146.2:p.Ser1376Gly
ENST00000642365.1:c.2933A>G
ENST00000642365.2:c.4276A>G ENSP00000495459.2:p.Ser1426Gly
ENST00000642561.1:c.4150A>G ENSP00000495099.1:p.Ser1384Gly
ENST00000642728.1:n.461A>G
ENST00000642797.1:c.4081A>G ENSP00000493846.1:p.Ser1361Gly
ENST00000642936.1:c.4147A>G ENSP00000494514.1:p.Ser1383Gly
ENST00000643088.1:c.4078A>G ENSP00000494747.1:p.Ser1360Gly
ENST00000643177.1:n.293A>G
ENST00000643426.1:n.1927A>G
ENST00000643946.1:c.4210A>G ENSP00000495927.1:p.Ser1404Gly
ENST00000644043.1:c.4150A>G ENSP00000496262.1:p.Ser1384Gly
ENST00000644329.1:c.4078A>G ENSP00000496611.1:p.Ser1360Gly
ENST00000644335.1:c.4081A>G ENSP00000496317.1:p.Ser1361Gly
ENST00000644399.1:c.4200A>G
ENST00000644417.2:c.*4659A>G ENSP00000493912.2:n.*4659A>G
ENST00000645024.1:n.2363A>G
ENST00000645186.1:c.522A>G
ENST00000646388.1:c.4279A>G ENSP00000495921.1:p.Ser1427Gly
ENST00000646464.2:c.*7028A>G ENSP00000496610.2:n.*7028A>G
ENST00000646634.1:n.3094A>G
ENST00000646674.1:n.1531A>G
ENST00000647042.1:n.1502A>G
ENST00000647180.1:n.1392A>G
XM_005255529.3:c.4150A>G XP_005255586.2:p.Ser1384Gly
XM_005255531.3:c.4081A>G XP_005255588.2:p.Ser1361Gly
XM_005255531.4:c.4081A>G XP_005255588.2:p.Ser1361Gly
XM_011522636.1:c.4333A>G XP_011520938.1:p.Ser1445Gly
XM_011522636.2:c.4333A>G XP_011520938.1:p.Ser1445Gly
XM_011522637.1:c.4330A>G XP_011520939.1:p.Ser1444Gly
XM_011522637.2:c.4330A>G XP_011520939.1:p.Ser1444Gly
XM_011522638.1:c.4222A>G XP_011520940.1:p.Ser1408Gly
XM_011522638.2:c.4495A>G XP_011520940.2:p.Ser1499Gly
XM_011522639.1:c.4204A>G XP_011520941.1:p.Ser1402Gly
XM_011522639.2:c.4204A>G XP_011520941.1:p.Ser1402Gly
XM_011522640.1:c.4201A>G XP_011520942.1:p.Ser1401Gly
XM_011522640.2:c.4201A>G XP_011520942.1:p.Ser1401Gly
XM_011522641.1:c.3970A>G XP_011520943.1:p.Ser1324Gly
XM_017023615.1:c.4276A>G XP_016879104.1:p.Ser1426Gly
XM_017023616.1:c.4147A>G XP_016879105.1:p.Ser1383Gly
XM_017023617.1:c.4243A>G XP_016879106.1:p.Ser1415Gly
XM_017023618.1:c.2989A>G XP_016879107.1:p.Ser997Gly
XM_024450413.1:c.4078A>G XP_024306181.1:p.Ser1360Gly