Canonical Allele Identifier: CA394299127
Community Standard Title: NM_000548.5(TSC2):c.4007C>G (p.Ser1336Trp)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084229C>G , CM000678.2:g.2084229C>G GRCh38
NC_000016.9:g.2134230C>G , CM000678.1:g.2134230C>G GRCh37
NC_000016.8:g.2074231C>G NCBI36
NG_005895.1:g.39924C>G , LRG_487:g.39924C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4007C>G MANE Select NP_000539.2:p.Ser1336Trp
ENST00000219476.9:c.4007C>G MANE Select ENSP00000219476.3:p.Ser1336Trp
NM_000548.3:c.4007C>G , LRG_487t1:c.4007C>G NP_000539.2:p.Ser1336Trp
NM_000548.4:c.4007C>G NP_000539.2:p.Ser1336Trp
NM_001077183.1:c.3806C>G NP_001070651.1:p.Ser1269Trp
NM_001077183.2:c.3806C>G NP_001070651.1:p.Ser1269Trp
NM_001077183.3:c.3806C>G NP_001070651.1:p.Ser1269Trp
NM_001114382.1:c.3938C>G NP_001107854.1:p.Ser1313Trp
NM_001114382.2:c.3938C>G NP_001107854.1:p.Ser1313Trp
NM_001114382.3:c.3938C>G NP_001107854.1:p.Ser1313Trp
NM_001318827.1:c.3698C>G NP_001305756.1:p.Ser1233Trp
NM_001318827.2:c.3698C>G NP_001305756.1:p.Ser1233Trp
NM_001318829.1:c.3662C>G NP_001305758.1:p.Ser1221Trp
NM_001318829.2:c.3662C>G NP_001305758.1:p.Ser1221Trp
NM_001318831.1:c.3275C>G NP_001305760.1:p.Ser1092Trp
NM_001318831.2:c.3275C>G NP_001305760.1:p.Ser1092Trp
NM_001318832.1:c.3839C>G NP_001305761.1:p.Ser1280Trp
NM_001318832.2:c.3839C>G NP_001305761.1:p.Ser1280Trp
NM_001363528.1:c.3809C>G NP_001350457.1:p.Ser1270Trp
NM_001363528.2:c.3809C>G NP_001350457.1:p.Ser1270Trp
NM_001370404.1:c.3875C>G NP_001357333.1:p.Ser1292Trp
NM_001370405.1:c.3878C>G NP_001357334.1:p.Ser1293Trp
NM_021055.2:c.3878C>G NP_066399.2:p.Ser1293Trp
NM_021055.3:c.3878C>G NP_066399.2:p.Ser1293Trp
ENST00000219476.7:c.4007C>G ENSP00000219476.3:p.Ser1336Trp
ENST00000350773.8:c.3938C>G ENSP00000344383.4:p.Ser1313Trp
ENST00000350773.9:c.3938C>G ENSP00000344383.4:p.Ser1313Trp
ENST00000382538.10:c.3662C>G ENSP00000371978.6:p.Ser1221Trp
ENST00000401874.6:c.3806C>G ENSP00000384468.2:p.Ser1269Trp
ENST00000401874.7:c.3806C>G ENSP00000384468.2:p.Ser1269Trp
ENST00000439117.6:c.*3174C>G ENSP00000406980.2:n.*3174C>G
ENST00000439673.6:c.3698C>G ENSP00000399232.2:p.Ser1233Trp
ENST00000497886.5:n.1765C>G
ENST00000568454.5:c.3839C>G ENSP00000454487.1:p.Ser1280Trp
ENST00000568454.6:c.3839C>G ENSP00000454487.1:p.Ser1280Trp
ENST00000568566.6:c.*2356C>G ENSP00000455997.2:n.*2356C>G
ENST00000569110.1:c.189C>G
ENST00000569110.2:c.243C>G
ENST00000569930.1:n.1122C>G
ENST00000569930.2:n.1889C>G
ENST00000642206.2:c.3854C>G ENSP00000495146.2:p.Ser1285Trp
ENST00000642365.1:c.2661C>G
ENST00000642365.2:c.4004C>G ENSP00000495459.2:p.Ser1335Trp
ENST00000642561.1:c.3878C>G ENSP00000495099.1:p.Ser1293Trp
ENST00000642728.1:n.189C>G
ENST00000642797.1:c.3809C>G ENSP00000493846.1:p.Ser1270Trp
ENST00000642936.1:c.3875C>G ENSP00000494514.1:p.Ser1292Trp
ENST00000643088.1:c.3806C>G ENSP00000494747.1:p.Ser1269Trp
ENST00000643177.1:n.21C>G
ENST00000643426.1:n.1655C>G
ENST00000643533.1:n.448C>G
ENST00000643946.1:c.3938C>G ENSP00000495927.1:p.Ser1313Trp
ENST00000644043.1:c.3878C>G ENSP00000496262.1:p.Ser1293Trp
ENST00000644329.1:c.3806C>G ENSP00000496611.1:p.Ser1269Trp
ENST00000644335.1:c.3809C>G ENSP00000496317.1:p.Ser1270Trp
ENST00000644399.1:c.3928C>G
ENST00000644417.2:c.*4387C>G ENSP00000493912.2:n.*4387C>G
ENST00000645024.1:n.2091C>G
ENST00000645186.1:c.250C>G
ENST00000646388.1:c.4007C>G ENSP00000495921.1:p.Ser1336Trp
ENST00000646464.2:c.*6756C>G ENSP00000496610.2:n.*6756C>G
ENST00000646634.1:n.2822C>G
ENST00000646674.1:n.1259C>G
ENST00000647042.1:n.1230C>G
ENST00000647180.1:n.1120C>G
XM_005255529.3:c.3878C>G XP_005255586.2:p.Ser1293Trp
XM_005255531.3:c.3809C>G XP_005255588.2:p.Ser1270Trp
XM_005255531.4:c.3809C>G XP_005255588.2:p.Ser1270Trp
XM_011522636.1:c.4061C>G XP_011520938.1:p.Ser1354Trp
XM_011522636.2:c.4061C>G XP_011520938.1:p.Ser1354Trp
XM_011522637.1:c.4058C>G XP_011520939.1:p.Ser1353Trp
XM_011522637.2:c.4058C>G XP_011520939.1:p.Ser1353Trp
XM_011522638.1:c.3950C>G XP_011520940.1:p.Ser1317Trp
XM_011522638.2:c.4223C>G XP_011520940.2:p.Ser1408Trp
XM_011522639.1:c.3932C>G XP_011520941.1:p.Ser1311Trp
XM_011522639.2:c.3932C>G XP_011520941.1:p.Ser1311Trp
XM_011522640.1:c.3929C>G XP_011520942.1:p.Ser1310Trp
XM_011522640.2:c.3929C>G XP_011520942.1:p.Ser1310Trp
XM_011522641.1:c.3698C>G XP_011520943.1:p.Ser1233Trp
XM_017023615.1:c.4004C>G XP_016879104.1:p.Ser1335Trp
XM_017023616.1:c.3875C>G XP_016879105.1:p.Ser1292Trp
XM_017023617.1:c.3971C>G XP_016879106.1:p.Ser1324Trp
XM_017023618.1:c.2717C>G XP_016879107.1:p.Ser906Trp
XM_024450413.1:c.3806C>G XP_024306181.1:p.Ser1269Trp