Canonical Allele Identifier: CA394297852
Community Standard Title: NM_000548.5(TSC2):c.4002C>G (p.Ser1334Arg)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2083813C>G , CM000678.2:g.2083813C>G GRCh38
NC_000016.9:g.2133814C>G , CM000678.1:g.2133814C>G GRCh37
NC_000016.8:g.2073815C>G NCBI36
NG_005895.1:g.39508C>G , LRG_487:g.39508C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4002C>G MANE Select NP_000539.2:p.Ser1334Arg
ENST00000219476.9:c.4002C>G MANE Select ENSP00000219476.3:p.Ser1334Arg
NM_000548.3:c.4002C>G , LRG_487t1:c.4002C>G NP_000539.2:p.Ser1334Arg
NM_000548.4:c.4002C>G NP_000539.2:p.Ser1334Arg
NM_001077183.1:c.3801C>G NP_001070651.1:p.Ser1267Arg
NM_001077183.2:c.3801C>G NP_001070651.1:p.Ser1267Arg
NM_001077183.3:c.3801C>G NP_001070651.1:p.Ser1267Arg
NM_001114382.1:c.3933C>G NP_001107854.1:p.Ser1311Arg
NM_001114382.2:c.3933C>G NP_001107854.1:p.Ser1311Arg
NM_001114382.3:c.3933C>G NP_001107854.1:p.Ser1311Arg
NM_001318827.1:c.3693C>G NP_001305756.1:p.Ser1231Arg
NM_001318827.2:c.3693C>G NP_001305756.1:p.Ser1231Arg
NM_001318829.1:c.3657C>G NP_001305758.1:p.Ser1219Arg
NM_001318829.2:c.3657C>G NP_001305758.1:p.Ser1219Arg
NM_001318831.1:c.3270C>G NP_001305760.1:p.Ser1090Arg
NM_001318831.2:c.3270C>G NP_001305760.1:p.Ser1090Arg
NM_001318832.1:c.3834C>G NP_001305761.1:p.Ser1278Arg
NM_001318832.2:c.3834C>G NP_001305761.1:p.Ser1278Arg
NM_001363528.1:c.3804C>G NP_001350457.1:p.Ser1268Arg
NM_001363528.2:c.3804C>G NP_001350457.1:p.Ser1268Arg
NM_001370404.1:c.3870C>G NP_001357333.1:p.Ser1290Arg
NM_001370405.1:c.3873C>G NP_001357334.1:p.Ser1291Arg
NM_021055.2:c.3873C>G NP_066399.2:p.Ser1291Arg
NM_021055.3:c.3873C>G NP_066399.2:p.Ser1291Arg
ENST00000219476.7:c.4002C>G ENSP00000219476.3:p.Ser1334Arg
ENST00000350773.8:c.3933C>G ENSP00000344383.4:p.Ser1311Arg
ENST00000350773.9:c.3933C>G ENSP00000344383.4:p.Ser1311Arg
ENST00000382538.10:c.3657C>G ENSP00000371978.6:p.Ser1219Arg
ENST00000401874.6:c.3801C>G ENSP00000384468.2:p.Ser1267Arg
ENST00000401874.7:c.3801C>G ENSP00000384468.2:p.Ser1267Arg
ENST00000439117.6:c.*3169C>G ENSP00000406980.2:n.*3169C>G
ENST00000439673.6:c.3693C>G ENSP00000399232.2:p.Ser1231Arg
ENST00000497886.5:n.1760C>G
ENST00000568454.5:c.3834C>G ENSP00000454487.1:p.Ser1278Arg
ENST00000568454.6:c.3834C>G ENSP00000454487.1:p.Ser1278Arg
ENST00000568566.6:c.*2351C>G ENSP00000455997.2:n.*2351C>G
ENST00000569110.1:c.184C>G
ENST00000569110.2:c.238C>G
ENST00000569930.1:n.1117C>G
ENST00000569930.2:n.1884C>G
ENST00000642206.2:c.3849C>G ENSP00000495146.2:p.Ser1283Arg
ENST00000642365.1:c.2656C>G
ENST00000642365.2:c.3999C>G ENSP00000495459.2:p.Ser1333Arg
ENST00000642561.1:c.3873C>G ENSP00000495099.1:p.Ser1291Arg
ENST00000642728.1:n.184C>G
ENST00000642797.1:c.3804C>G ENSP00000493846.1:p.Ser1268Arg
ENST00000642936.1:c.3870C>G ENSP00000494514.1:p.Ser1290Arg
ENST00000643088.1:c.3801C>G ENSP00000494747.1:p.Ser1267Arg
ENST00000643177.1:n.16C>G
ENST00000643426.1:n.1650C>G
ENST00000643533.1:n.443C>G
ENST00000643946.1:c.3933C>G ENSP00000495927.1:p.Ser1311Arg
ENST00000644043.1:c.3873C>G ENSP00000496262.1:p.Ser1291Arg
ENST00000644329.1:c.3801C>G ENSP00000496611.1:p.Ser1267Arg
ENST00000644335.1:c.3804C>G ENSP00000496317.1:p.Ser1268Arg
ENST00000644399.1:c.3923C>G
ENST00000644417.2:c.*4382C>G ENSP00000493912.2:n.*4382C>G
ENST00000645024.1:n.2086C>G
ENST00000645186.1:c.245C>G
ENST00000646388.1:c.4002C>G ENSP00000495921.1:p.Ser1334Arg
ENST00000646464.2:c.*6751C>G ENSP00000496610.2:n.*6751C>G
ENST00000646634.1:n.2817C>G
ENST00000646674.1:n.1254C>G
ENST00000647042.1:n.1225C>G
ENST00000647180.1:n.1115C>G
XM_005255529.3:c.3873C>G XP_005255586.2:p.Ser1291Arg
XM_005255531.3:c.3804C>G XP_005255588.2:p.Ser1268Arg
XM_005255531.4:c.3804C>G XP_005255588.2:p.Ser1268Arg
XM_011522636.1:c.4056C>G XP_011520938.1:p.Ser1352Arg
XM_011522636.2:c.4056C>G XP_011520938.1:p.Ser1352Arg
XM_011522637.1:c.4053C>G XP_011520939.1:p.Ser1351Arg
XM_011522637.2:c.4053C>G XP_011520939.1:p.Ser1351Arg
XM_011522638.1:c.3945C>G XP_011520940.1:p.Ser1315Arg
XM_011522638.2:c.4218C>G XP_011520940.2:p.Ser1406Arg
XM_011522639.1:c.3927C>G XP_011520941.1:p.Ser1309Arg
XM_011522639.2:c.3927C>G XP_011520941.1:p.Ser1309Arg
XM_011522640.1:c.3924C>G XP_011520942.1:p.Ser1308Arg
XM_011522640.2:c.3924C>G XP_011520942.1:p.Ser1308Arg
XM_011522641.1:c.3693C>G XP_011520943.1:p.Ser1231Arg
XM_017023615.1:c.3999C>G XP_016879104.1:p.Ser1333Arg
XM_017023616.1:c.3870C>G XP_016879105.1:p.Ser1290Arg
XM_017023617.1:c.3966C>G XP_016879106.1:p.Ser1322Arg
XM_017023618.1:c.2712C>G XP_016879107.1:p.Ser904Arg
XM_024450413.1:c.3801C>G XP_024306181.1:p.Ser1267Arg