Canonical Allele Identifier: CA050988
Community Standard Title: NM_000548.5(TSC2):c.4361G>T (p.Ser1454Ile)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084583G>T , CM000678.2:g.2084583G>T GRCh38
NC_000016.9:g.2134584G>T , CM000678.1:g.2134584G>T GRCh37
NC_000016.8:g.2074585G>T NCBI36
NG_005895.1:g.40278G>T , LRG_487:g.40278G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4361G>T MANE Select NP_000539.2:p.Ser1454Ile
ENST00000219476.9:c.4361G>T MANE Select ENSP00000219476.3:p.Ser1454Ile
NM_000548.3:c.4361G>T , LRG_487t1:c.4361G>T NP_000539.2:p.Ser1454Ile
NM_000548.4:c.4361G>T NP_000539.2:p.Ser1454Ile
NM_001077183.1:c.4160G>T NP_001070651.1:p.Ser1387Ile
NM_001077183.2:c.4160G>T NP_001070651.1:p.Ser1387Ile
NM_001077183.3:c.4160G>T NP_001070651.1:p.Ser1387Ile
NM_001114382.1:c.4292G>T NP_001107854.1:p.Ser1431Ile
NM_001114382.2:c.4292G>T NP_001107854.1:p.Ser1431Ile
NM_001114382.3:c.4292G>T NP_001107854.1:p.Ser1431Ile
NM_001318827.1:c.4052G>T NP_001305756.1:p.Ser1351Ile
NM_001318827.2:c.4052G>T NP_001305756.1:p.Ser1351Ile
NM_001318829.1:c.4016G>T NP_001305758.1:p.Ser1339Ile
NM_001318829.2:c.4016G>T NP_001305758.1:p.Ser1339Ile
NM_001318831.1:c.3629G>T NP_001305760.1:p.Ser1210Ile
NM_001318831.2:c.3629G>T NP_001305760.1:p.Ser1210Ile
NM_001318832.1:c.4193G>T NP_001305761.1:p.Ser1398Ile
NM_001318832.2:c.4193G>T NP_001305761.1:p.Ser1398Ile
NM_001363528.1:c.4163G>T NP_001350457.1:p.Ser1388Ile
NM_001363528.2:c.4163G>T NP_001350457.1:p.Ser1388Ile
NM_001370404.1:c.4229G>T NP_001357333.1:p.Ser1410Ile
NM_001370405.1:c.4232G>T NP_001357334.1:p.Ser1411Ile
NM_021055.2:c.4232G>T NP_066399.2:p.Ser1411Ile
NM_021055.3:c.4232G>T NP_066399.2:p.Ser1411Ile
ENST00000219476.7:c.4361G>T ENSP00000219476.3:p.Ser1454Ile
ENST00000350773.8:c.4292G>T ENSP00000344383.4:p.Ser1431Ile
ENST00000350773.9:c.4292G>T ENSP00000344383.4:p.Ser1431Ile
ENST00000382538.10:c.4016G>T ENSP00000371978.6:p.Ser1339Ile
ENST00000401874.6:c.4160G>T ENSP00000384468.2:p.Ser1387Ile
ENST00000401874.7:c.4160G>T ENSP00000384468.2:p.Ser1387Ile
ENST00000439117.6:c.*3528G>T ENSP00000406980.2:n.*3528G>T
ENST00000439673.6:c.4052G>T ENSP00000399232.2:p.Ser1351Ile
ENST00000497886.5:n.2119G>T
ENST00000568454.5:c.4193G>T ENSP00000454487.1:p.Ser1398Ile
ENST00000568454.6:c.4193G>T ENSP00000454487.1:p.Ser1398Ile
ENST00000568566.6:c.*2710G>T ENSP00000455997.2:n.*2710G>T
ENST00000569110.1:c.543G>T
ENST00000569110.2:c.597G>T
ENST00000569930.1:n.1476G>T
ENST00000569930.2:n.2243G>T
ENST00000642206.2:c.4208G>T ENSP00000495146.2:p.Ser1403Ile
ENST00000642365.1:c.3015G>T
ENST00000642365.2:c.4358G>T ENSP00000495459.2:p.Ser1453Ile
ENST00000642561.1:c.4232G>T ENSP00000495099.1:p.Ser1411Ile
ENST00000642728.1:n.543G>T
ENST00000642797.1:c.4163G>T ENSP00000493846.1:p.Ser1388Ile
ENST00000642936.1:c.4229G>T ENSP00000494514.1:p.Ser1410Ile
ENST00000643088.1:c.4160G>T ENSP00000494747.1:p.Ser1387Ile
ENST00000643177.1:n.375G>T
ENST00000643426.1:n.2009G>T
ENST00000643946.1:c.4292G>T ENSP00000495927.1:p.Ser1431Ile
ENST00000644043.1:c.4232G>T ENSP00000496262.1:p.Ser1411Ile
ENST00000644329.1:c.4160G>T ENSP00000496611.1:p.Ser1387Ile
ENST00000644335.1:c.4163G>T ENSP00000496317.1:p.Ser1388Ile
ENST00000644399.1:c.4282G>T
ENST00000644417.2:c.*4741G>T ENSP00000493912.2:n.*4741G>T
ENST00000645024.1:n.2445G>T
ENST00000646388.1:c.4361G>T ENSP00000495921.1:p.Ser1454Ile
ENST00000646464.2:c.*7110G>T ENSP00000496610.2:n.*7110G>T
ENST00000646634.1:n.3176G>T
ENST00000646674.1:n.1613G>T
ENST00000647042.1:n.1584G>T
ENST00000647180.1:n.1474G>T
XM_005255529.3:c.4232G>T XP_005255586.2:p.Ser1411Ile
XM_005255531.3:c.4163G>T XP_005255588.2:p.Ser1388Ile
XM_005255531.4:c.4163G>T XP_005255588.2:p.Ser1388Ile
XM_011522636.1:c.4415G>T XP_011520938.1:p.Ser1472Ile
XM_011522636.2:c.4415G>T XP_011520938.1:p.Ser1472Ile
XM_011522637.1:c.4412G>T XP_011520939.1:p.Ser1471Ile
XM_011522637.2:c.4412G>T XP_011520939.1:p.Ser1471Ile
XM_011522638.1:c.4304G>T XP_011520940.1:p.Ser1435Ile
XM_011522638.2:c.4577G>T XP_011520940.2:p.Ser1526Ile
XM_011522639.1:c.4286G>T XP_011520941.1:p.Ser1429Ile
XM_011522639.2:c.4286G>T XP_011520941.1:p.Ser1429Ile
XM_011522640.1:c.4283G>T XP_011520942.1:p.Ser1428Ile
XM_011522640.2:c.4283G>T XP_011520942.1:p.Ser1428Ile
XM_011522641.1:c.4052G>T XP_011520943.1:p.Ser1351Ile
XM_017023615.1:c.4358G>T XP_016879104.1:p.Ser1453Ile
XM_017023616.1:c.4229G>T XP_016879105.1:p.Ser1410Ile
XM_017023617.1:c.4325G>T XP_016879106.1:p.Ser1442Ile
XM_017023618.1:c.3071G>T XP_016879107.1:p.Ser1024Ile
XM_024450413.1:c.4160G>T XP_024306181.1:p.Ser1387Ile