Canonical Allele Identifier: CA394297222
Community Standard Title: NM_000548.5(TSC2):c.3928G>C (p.Val1310Leu)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2083739G>C , CM000678.2:g.2083739G>C GRCh38
NC_000016.9:g.2133740G>C , CM000678.1:g.2133740G>C GRCh37
NC_000016.8:g.2073741G>C NCBI36
NG_005895.1:g.39434G>C , LRG_487:g.39434G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.3928G>C MANE Select NP_000539.2:p.Val1310Leu
ENST00000219476.9:c.3928G>C MANE Select ENSP00000219476.3:p.Val1310Leu
NM_000548.3:c.3928G>C , LRG_487t1:c.3928G>C NP_000539.2:p.Val1310Leu
NM_000548.4:c.3928G>C NP_000539.2:p.Val1310Leu
NM_001077183.1:c.3727G>C NP_001070651.1:p.Val1243Leu
NM_001077183.2:c.3727G>C NP_001070651.1:p.Val1243Leu
NM_001077183.3:c.3727G>C NP_001070651.1:p.Val1243Leu
NM_001114382.1:c.3859G>C NP_001107854.1:p.Val1287Leu
NM_001114382.2:c.3859G>C NP_001107854.1:p.Val1287Leu
NM_001114382.3:c.3859G>C NP_001107854.1:p.Val1287Leu
NM_001318827.1:c.3619G>C NP_001305756.1:p.Val1207Leu
NM_001318827.2:c.3619G>C NP_001305756.1:p.Val1207Leu
NM_001318829.1:c.3583G>C NP_001305758.1:p.Val1195Leu
NM_001318829.2:c.3583G>C NP_001305758.1:p.Val1195Leu
NM_001318831.1:c.3196G>C NP_001305760.1:p.Val1066Leu
NM_001318831.2:c.3196G>C NP_001305760.1:p.Val1066Leu
NM_001318832.1:c.3760G>C NP_001305761.1:p.Val1254Leu
NM_001318832.2:c.3760G>C NP_001305761.1:p.Val1254Leu
NM_001363528.1:c.3730G>C NP_001350457.1:p.Val1244Leu
NM_001363528.2:c.3730G>C NP_001350457.1:p.Val1244Leu
NM_001370404.1:c.3796G>C NP_001357333.1:p.Val1266Leu
NM_001370405.1:c.3799G>C NP_001357334.1:p.Val1267Leu
NM_021055.2:c.3799G>C NP_066399.2:p.Val1267Leu
NM_021055.3:c.3799G>C NP_066399.2:p.Val1267Leu
ENST00000219476.7:c.3928G>C ENSP00000219476.3:p.Val1310Leu
ENST00000350773.8:c.3859G>C ENSP00000344383.4:p.Val1287Leu
ENST00000350773.9:c.3859G>C ENSP00000344383.4:p.Val1287Leu
ENST00000382538.10:c.3583G>C ENSP00000371978.6:p.Val1195Leu
ENST00000401874.6:c.3727G>C ENSP00000384468.2:p.Val1243Leu
ENST00000401874.7:c.3727G>C ENSP00000384468.2:p.Val1243Leu
ENST00000439117.6:c.*3095G>C ENSP00000406980.2:n.*3095G>C
ENST00000439673.6:c.3619G>C ENSP00000399232.2:p.Val1207Leu
ENST00000497886.5:n.1686G>C
ENST00000568454.5:c.3760G>C ENSP00000454487.1:p.Val1254Leu
ENST00000568454.6:c.3760G>C ENSP00000454487.1:p.Val1254Leu
ENST00000568566.6:c.*2277G>C ENSP00000455997.2:n.*2277G>C
ENST00000569110.1:c.110G>C
ENST00000569110.2:c.164G>C
ENST00000569930.1:n.1043G>C
ENST00000569930.2:n.1810G>C
ENST00000642206.2:c.3775G>C ENSP00000495146.2:p.Val1259Leu
ENST00000642365.1:c.2582G>C
ENST00000642365.2:c.3925G>C ENSP00000495459.2:p.Val1309Leu
ENST00000642561.1:c.3799G>C ENSP00000495099.1:p.Val1267Leu
ENST00000642728.1:n.110G>C
ENST00000642797.1:c.3730G>C ENSP00000493846.1:p.Val1244Leu
ENST00000642936.1:c.3796G>C ENSP00000494514.1:p.Val1266Leu
ENST00000643088.1:c.3727G>C ENSP00000494747.1:p.Val1243Leu
ENST00000643426.1:n.1576G>C
ENST00000643533.1:n.369G>C
ENST00000643946.1:c.3859G>C ENSP00000495927.1:p.Val1287Leu
ENST00000644043.1:c.3799G>C ENSP00000496262.1:p.Val1267Leu
ENST00000644329.1:c.3727G>C ENSP00000496611.1:p.Val1243Leu
ENST00000644335.1:c.3730G>C ENSP00000496317.1:p.Val1244Leu
ENST00000644399.1:c.3849G>C
ENST00000644417.2:c.*4308G>C ENSP00000493912.2:n.*4308G>C
ENST00000645024.1:n.2012G>C
ENST00000645186.1:c.171G>C
ENST00000646388.1:c.3928G>C ENSP00000495921.1:p.Val1310Leu
ENST00000646464.2:c.*6677G>C ENSP00000496610.2:n.*6677G>C
ENST00000646634.1:n.2743G>C
ENST00000646674.1:n.1180G>C
ENST00000647042.1:n.1151G>C
ENST00000647180.1:n.1041G>C
XM_005255529.3:c.3799G>C XP_005255586.2:p.Val1267Leu
XM_005255531.3:c.3730G>C XP_005255588.2:p.Val1244Leu
XM_005255531.4:c.3730G>C XP_005255588.2:p.Val1244Leu
XM_011522636.1:c.3982G>C XP_011520938.1:p.Val1328Leu
XM_011522636.2:c.3982G>C XP_011520938.1:p.Val1328Leu
XM_011522637.1:c.3979G>C XP_011520939.1:p.Val1327Leu
XM_011522637.2:c.3979G>C XP_011520939.1:p.Val1327Leu
XM_011522638.1:c.3871G>C XP_011520940.1:p.Val1291Leu
XM_011522638.2:c.4144G>C XP_011520940.2:p.Val1382Leu
XM_011522639.1:c.3853G>C XP_011520941.1:p.Val1285Leu
XM_011522639.2:c.3853G>C XP_011520941.1:p.Val1285Leu
XM_011522640.1:c.3850G>C XP_011520942.1:p.Val1284Leu
XM_011522640.2:c.3850G>C XP_011520942.1:p.Val1284Leu
XM_011522641.1:c.3619G>C XP_011520943.1:p.Val1207Leu
XM_017023615.1:c.3925G>C XP_016879104.1:p.Val1309Leu
XM_017023616.1:c.3796G>C XP_016879105.1:p.Val1266Leu
XM_017023617.1:c.3892G>C XP_016879106.1:p.Val1298Leu
XM_017023618.1:c.2638G>C XP_016879107.1:p.Val880Leu
XM_024450413.1:c.3727G>C XP_024306181.1:p.Val1243Leu