Canonical Allele Identifier: CA394299461
Community Standard Title: NM_000548.5(TSC2):c.4090T>G (p.Ser1364Ala)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084312T>G , CM000678.2:g.2084312T>G GRCh38
NC_000016.9:g.2134313T>G , CM000678.1:g.2134313T>G GRCh37
NC_000016.8:g.2074314T>G NCBI36
NG_005895.1:g.40007T>G , LRG_487:g.40007T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4090T>G MANE Select NP_000539.2:p.Ser1364Ala
ENST00000219476.9:c.4090T>G MANE Select ENSP00000219476.3:p.Ser1364Ala
NM_000548.3:c.4090T>G , LRG_487t1:c.4090T>G NP_000539.2:p.Ser1364Ala
NM_000548.4:c.4090T>G NP_000539.2:p.Ser1364Ala
NM_001077183.1:c.3889T>G NP_001070651.1:p.Ser1297Ala
NM_001077183.2:c.3889T>G NP_001070651.1:p.Ser1297Ala
NM_001077183.3:c.3889T>G NP_001070651.1:p.Ser1297Ala
NM_001114382.1:c.4021T>G NP_001107854.1:p.Ser1341Ala
NM_001114382.2:c.4021T>G NP_001107854.1:p.Ser1341Ala
NM_001114382.3:c.4021T>G NP_001107854.1:p.Ser1341Ala
NM_001318827.1:c.3781T>G NP_001305756.1:p.Ser1261Ala
NM_001318827.2:c.3781T>G NP_001305756.1:p.Ser1261Ala
NM_001318829.1:c.3745T>G NP_001305758.1:p.Ser1249Ala
NM_001318829.2:c.3745T>G NP_001305758.1:p.Ser1249Ala
NM_001318831.1:c.3358T>G NP_001305760.1:p.Ser1120Ala
NM_001318831.2:c.3358T>G NP_001305760.1:p.Ser1120Ala
NM_001318832.1:c.3922T>G NP_001305761.1:p.Ser1308Ala
NM_001318832.2:c.3922T>G NP_001305761.1:p.Ser1308Ala
NM_001363528.1:c.3892T>G NP_001350457.1:p.Ser1298Ala
NM_001363528.2:c.3892T>G NP_001350457.1:p.Ser1298Ala
NM_001370404.1:c.3958T>G NP_001357333.1:p.Ser1320Ala
NM_001370405.1:c.3961T>G NP_001357334.1:p.Ser1321Ala
NM_021055.2:c.3961T>G NP_066399.2:p.Ser1321Ala
NM_021055.3:c.3961T>G NP_066399.2:p.Ser1321Ala
ENST00000219476.7:c.4090T>G ENSP00000219476.3:p.Ser1364Ala
ENST00000350773.8:c.4021T>G ENSP00000344383.4:p.Ser1341Ala
ENST00000350773.9:c.4021T>G ENSP00000344383.4:p.Ser1341Ala
ENST00000382538.10:c.3745T>G ENSP00000371978.6:p.Ser1249Ala
ENST00000401874.6:c.3889T>G ENSP00000384468.2:p.Ser1297Ala
ENST00000401874.7:c.3889T>G ENSP00000384468.2:p.Ser1297Ala
ENST00000439117.6:c.*3257T>G ENSP00000406980.2:n.*3257T>G
ENST00000439673.6:c.3781T>G ENSP00000399232.2:p.Ser1261Ala
ENST00000497886.5:n.1848T>G
ENST00000568454.5:c.3922T>G ENSP00000454487.1:p.Ser1308Ala
ENST00000568454.6:c.3922T>G ENSP00000454487.1:p.Ser1308Ala
ENST00000568566.6:c.*2439T>G ENSP00000455997.2:n.*2439T>G
ENST00000569110.1:c.272T>G
ENST00000569110.2:c.326T>G
ENST00000569930.1:n.1205T>G
ENST00000569930.2:n.1972T>G
ENST00000642206.2:c.3937T>G ENSP00000495146.2:p.Ser1313Ala
ENST00000642365.1:c.2744T>G
ENST00000642365.2:c.4087T>G ENSP00000495459.2:p.Ser1363Ala
ENST00000642561.1:c.3961T>G ENSP00000495099.1:p.Ser1321Ala
ENST00000642728.1:n.272T>G
ENST00000642797.1:c.3892T>G ENSP00000493846.1:p.Ser1298Ala
ENST00000642936.1:c.3958T>G ENSP00000494514.1:p.Ser1320Ala
ENST00000643088.1:c.3889T>G ENSP00000494747.1:p.Ser1297Ala
ENST00000643177.1:n.104T>G
ENST00000643426.1:n.1738T>G
ENST00000643946.1:c.4021T>G ENSP00000495927.1:p.Ser1341Ala
ENST00000644043.1:c.3961T>G ENSP00000496262.1:p.Ser1321Ala
ENST00000644329.1:c.3889T>G ENSP00000496611.1:p.Ser1297Ala
ENST00000644335.1:c.3892T>G ENSP00000496317.1:p.Ser1298Ala
ENST00000644399.1:c.4011T>G
ENST00000644417.2:c.*4470T>G ENSP00000493912.2:n.*4470T>G
ENST00000645024.1:n.2174T>G
ENST00000645186.1:c.333T>G
ENST00000646388.1:c.4090T>G ENSP00000495921.1:p.Ser1364Ala
ENST00000646464.2:c.*6839T>G ENSP00000496610.2:n.*6839T>G
ENST00000646634.1:n.2905T>G
ENST00000646674.1:n.1342T>G
ENST00000647042.1:n.1313T>G
ENST00000647180.1:n.1203T>G
XM_005255529.3:c.3961T>G XP_005255586.2:p.Ser1321Ala
XM_005255531.3:c.3892T>G XP_005255588.2:p.Ser1298Ala
XM_005255531.4:c.3892T>G XP_005255588.2:p.Ser1298Ala
XM_011522636.1:c.4144T>G XP_011520938.1:p.Ser1382Ala
XM_011522636.2:c.4144T>G XP_011520938.1:p.Ser1382Ala
XM_011522637.1:c.4141T>G XP_011520939.1:p.Ser1381Ala
XM_011522637.2:c.4141T>G XP_011520939.1:p.Ser1381Ala
XM_011522638.1:c.4033T>G XP_011520940.1:p.Ser1345Ala
XM_011522638.2:c.4306T>G XP_011520940.2:p.Ser1436Ala
XM_011522639.1:c.4015T>G XP_011520941.1:p.Ser1339Ala
XM_011522639.2:c.4015T>G XP_011520941.1:p.Ser1339Ala
XM_011522640.1:c.4012T>G XP_011520942.1:p.Ser1338Ala
XM_011522640.2:c.4012T>G XP_011520942.1:p.Ser1338Ala
XM_011522641.1:c.3781T>G XP_011520943.1:p.Ser1261Ala
XM_017023615.1:c.4087T>G XP_016879104.1:p.Ser1363Ala
XM_017023616.1:c.3958T>G XP_016879105.1:p.Ser1320Ala
XM_017023617.1:c.4054T>G XP_016879106.1:p.Ser1352Ala
XM_017023618.1:c.2800T>G XP_016879107.1:p.Ser934Ala
XM_024450413.1:c.3889T>G XP_024306181.1:p.Ser1297Ala