Canonical Allele Identifier: CA050710
Community Standard Title: NM_000548.5(TSC2):c.4253C>T (p.Ser1418Leu)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084475C>T , CM000678.2:g.2084475C>T GRCh38
NC_000016.9:g.2134476C>T , CM000678.1:g.2134476C>T GRCh37
NC_000016.8:g.2074477C>T NCBI36
NG_005895.1:g.40170C>T , LRG_487:g.40170C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4253C>T MANE Select NP_000539.2:p.Ser1418Leu
ENST00000219476.9:c.4253C>T MANE Select ENSP00000219476.3:p.Ser1418Leu
NM_000548.3:c.4253C>T , LRG_487t1:c.4253C>T NP_000539.2:p.Ser1418Leu
NM_000548.4:c.4253C>T NP_000539.2:p.Ser1418Leu
NM_001077183.1:c.4052C>T NP_001070651.1:p.Ser1351Leu
NM_001077183.2:c.4052C>T NP_001070651.1:p.Ser1351Leu
NM_001077183.3:c.4052C>T NP_001070651.1:p.Ser1351Leu
NM_001114382.1:c.4184C>T NP_001107854.1:p.Ser1395Leu
NM_001114382.2:c.4184C>T NP_001107854.1:p.Ser1395Leu
NM_001114382.3:c.4184C>T NP_001107854.1:p.Ser1395Leu
NM_001318827.1:c.3944C>T NP_001305756.1:p.Ser1315Leu
NM_001318827.2:c.3944C>T NP_001305756.1:p.Ser1315Leu
NM_001318829.1:c.3908C>T NP_001305758.1:p.Ser1303Leu
NM_001318829.2:c.3908C>T NP_001305758.1:p.Ser1303Leu
NM_001318831.1:c.3521C>T NP_001305760.1:p.Ser1174Leu
NM_001318831.2:c.3521C>T NP_001305760.1:p.Ser1174Leu
NM_001318832.1:c.4085C>T NP_001305761.1:p.Ser1362Leu
NM_001318832.2:c.4085C>T NP_001305761.1:p.Ser1362Leu
NM_001363528.1:c.4055C>T NP_001350457.1:p.Ser1352Leu
NM_001363528.2:c.4055C>T NP_001350457.1:p.Ser1352Leu
NM_001370404.1:c.4121C>T NP_001357333.1:p.Ser1374Leu
NM_001370405.1:c.4124C>T NP_001357334.1:p.Ser1375Leu
NM_021055.2:c.4124C>T NP_066399.2:p.Ser1375Leu
NM_021055.3:c.4124C>T NP_066399.2:p.Ser1375Leu
ENST00000219476.7:c.4253C>T ENSP00000219476.3:p.Ser1418Leu
ENST00000350773.8:c.4184C>T ENSP00000344383.4:p.Ser1395Leu
ENST00000350773.9:c.4184C>T ENSP00000344383.4:p.Ser1395Leu
ENST00000382538.10:c.3908C>T ENSP00000371978.6:p.Ser1303Leu
ENST00000401874.6:c.4052C>T ENSP00000384468.2:p.Ser1351Leu
ENST00000401874.7:c.4052C>T ENSP00000384468.2:p.Ser1351Leu
ENST00000439117.6:c.*3420C>T ENSP00000406980.2:n.*3420C>T
ENST00000439673.6:c.3944C>T ENSP00000399232.2:p.Ser1315Leu
ENST00000497886.5:n.2011C>T
ENST00000568454.5:c.4085C>T ENSP00000454487.1:p.Ser1362Leu
ENST00000568454.6:c.4085C>T ENSP00000454487.1:p.Ser1362Leu
ENST00000568566.6:c.*2602C>T ENSP00000455997.2:n.*2602C>T
ENST00000569110.1:c.435C>T
ENST00000569110.2:c.489C>T
ENST00000569930.1:n.1368C>T
ENST00000569930.2:n.2135C>T
ENST00000642206.2:c.4100C>T ENSP00000495146.2:p.Ser1367Leu
ENST00000642365.1:c.2907C>T
ENST00000642365.2:c.4250C>T ENSP00000495459.2:p.Ser1417Leu
ENST00000642561.1:c.4124C>T ENSP00000495099.1:p.Ser1375Leu
ENST00000642728.1:n.435C>T
ENST00000642797.1:c.4055C>T ENSP00000493846.1:p.Ser1352Leu
ENST00000642936.1:c.4121C>T ENSP00000494514.1:p.Ser1374Leu
ENST00000643088.1:c.4052C>T ENSP00000494747.1:p.Ser1351Leu
ENST00000643177.1:n.267C>T
ENST00000643426.1:n.1901C>T
ENST00000643946.1:c.4184C>T ENSP00000495927.1:p.Ser1395Leu
ENST00000644043.1:c.4124C>T ENSP00000496262.1:p.Ser1375Leu
ENST00000644329.1:c.4052C>T ENSP00000496611.1:p.Ser1351Leu
ENST00000644335.1:c.4055C>T ENSP00000496317.1:p.Ser1352Leu
ENST00000644399.1:c.4174C>T
ENST00000644417.2:c.*4633C>T ENSP00000493912.2:n.*4633C>T
ENST00000645024.1:n.2337C>T
ENST00000645186.1:c.496C>T
ENST00000646388.1:c.4253C>T ENSP00000495921.1:p.Ser1418Leu
ENST00000646464.2:c.*7002C>T ENSP00000496610.2:n.*7002C>T
ENST00000646634.1:n.3068C>T
ENST00000646674.1:n.1505C>T
ENST00000647042.1:n.1476C>T
ENST00000647180.1:n.1366C>T
XM_005255529.3:c.4124C>T XP_005255586.2:p.Ser1375Leu
XM_005255531.3:c.4055C>T XP_005255588.2:p.Ser1352Leu
XM_005255531.4:c.4055C>T XP_005255588.2:p.Ser1352Leu
XM_011522636.1:c.4307C>T XP_011520938.1:p.Ser1436Leu
XM_011522636.2:c.4307C>T XP_011520938.1:p.Ser1436Leu
XM_011522637.1:c.4304C>T XP_011520939.1:p.Ser1435Leu
XM_011522637.2:c.4304C>T XP_011520939.1:p.Ser1435Leu
XM_011522638.1:c.4196C>T XP_011520940.1:p.Ser1399Leu
XM_011522638.2:c.4469C>T XP_011520940.2:p.Ser1490Leu
XM_011522639.1:c.4178C>T XP_011520941.1:p.Ser1393Leu
XM_011522639.2:c.4178C>T XP_011520941.1:p.Ser1393Leu
XM_011522640.1:c.4175C>T XP_011520942.1:p.Ser1392Leu
XM_011522640.2:c.4175C>T XP_011520942.1:p.Ser1392Leu
XM_011522641.1:c.3944C>T XP_011520943.1:p.Ser1315Leu
XM_017023615.1:c.4250C>T XP_016879104.1:p.Ser1417Leu
XM_017023616.1:c.4121C>T XP_016879105.1:p.Ser1374Leu
XM_017023617.1:c.4217C>T XP_016879106.1:p.Ser1406Leu
XM_017023618.1:c.2963C>T XP_016879107.1:p.Ser988Leu
XM_024450413.1:c.4052C>T XP_024306181.1:p.Ser1351Leu