Canonical Allele Identifier: CA394297583
Community Standard Title: NM_000548.5(TSC2):c.3977T>C (p.Met1326Thr)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2083788T>C , CM000678.2:g.2083788T>C GRCh38
NC_000016.9:g.2133789T>C , CM000678.1:g.2133789T>C GRCh37
NC_000016.8:g.2073790T>C NCBI36
NG_005895.1:g.39483T>C , LRG_487:g.39483T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.3977T>C MANE Select NP_000539.2:p.Met1326Thr
ENST00000219476.9:c.3977T>C MANE Select ENSP00000219476.3:p.Met1326Thr
NM_000548.3:c.3977T>C , LRG_487t1:c.3977T>C NP_000539.2:p.Met1326Thr
NM_000548.4:c.3977T>C NP_000539.2:p.Met1326Thr
NM_001077183.1:c.3776T>C NP_001070651.1:p.Met1259Thr
NM_001077183.2:c.3776T>C NP_001070651.1:p.Met1259Thr
NM_001077183.3:c.3776T>C NP_001070651.1:p.Met1259Thr
NM_001114382.1:c.3908T>C NP_001107854.1:p.Met1303Thr
NM_001114382.2:c.3908T>C NP_001107854.1:p.Met1303Thr
NM_001114382.3:c.3908T>C NP_001107854.1:p.Met1303Thr
NM_001318827.1:c.3668T>C NP_001305756.1:p.Met1223Thr
NM_001318827.2:c.3668T>C NP_001305756.1:p.Met1223Thr
NM_001318829.1:c.3632T>C NP_001305758.1:p.Met1211Thr
NM_001318829.2:c.3632T>C NP_001305758.1:p.Met1211Thr
NM_001318831.1:c.3245T>C NP_001305760.1:p.Met1082Thr
NM_001318831.2:c.3245T>C NP_001305760.1:p.Met1082Thr
NM_001318832.1:c.3809T>C NP_001305761.1:p.Met1270Thr
NM_001318832.2:c.3809T>C NP_001305761.1:p.Met1270Thr
NM_001363528.1:c.3779T>C NP_001350457.1:p.Met1260Thr
NM_001363528.2:c.3779T>C NP_001350457.1:p.Met1260Thr
NM_001370404.1:c.3845T>C NP_001357333.1:p.Met1282Thr
NM_001370405.1:c.3848T>C NP_001357334.1:p.Met1283Thr
NM_021055.2:c.3848T>C NP_066399.2:p.Met1283Thr
NM_021055.3:c.3848T>C NP_066399.2:p.Met1283Thr
ENST00000219476.7:c.3977T>C ENSP00000219476.3:p.Met1326Thr
ENST00000350773.8:c.3908T>C ENSP00000344383.4:p.Met1303Thr
ENST00000350773.9:c.3908T>C ENSP00000344383.4:p.Met1303Thr
ENST00000382538.10:c.3632T>C ENSP00000371978.6:p.Met1211Thr
ENST00000401874.6:c.3776T>C ENSP00000384468.2:p.Met1259Thr
ENST00000401874.7:c.3776T>C ENSP00000384468.2:p.Met1259Thr
ENST00000439117.6:c.*3144T>C ENSP00000406980.2:n.*3144T>C
ENST00000439673.6:c.3668T>C ENSP00000399232.2:p.Met1223Thr
ENST00000497886.5:n.1735T>C
ENST00000568454.5:c.3809T>C ENSP00000454487.1:p.Met1270Thr
ENST00000568454.6:c.3809T>C ENSP00000454487.1:p.Met1270Thr
ENST00000568566.6:c.*2326T>C ENSP00000455997.2:n.*2326T>C
ENST00000569110.1:c.159T>C
ENST00000569110.2:c.213T>C
ENST00000569930.1:n.1092T>C
ENST00000569930.2:n.1859T>C
ENST00000642206.2:c.3824T>C ENSP00000495146.2:p.Met1275Thr
ENST00000642365.1:c.2631T>C
ENST00000642365.2:c.3974T>C ENSP00000495459.2:p.Met1325Thr
ENST00000642561.1:c.3848T>C ENSP00000495099.1:p.Met1283Thr
ENST00000642728.1:n.159T>C
ENST00000642797.1:c.3779T>C ENSP00000493846.1:p.Met1260Thr
ENST00000642936.1:c.3845T>C ENSP00000494514.1:p.Met1282Thr
ENST00000643088.1:c.3776T>C ENSP00000494747.1:p.Met1259Thr
ENST00000643426.1:n.1625T>C
ENST00000643533.1:n.418T>C
ENST00000643946.1:c.3908T>C ENSP00000495927.1:p.Met1303Thr
ENST00000644043.1:c.3848T>C ENSP00000496262.1:p.Met1283Thr
ENST00000644329.1:c.3776T>C ENSP00000496611.1:p.Met1259Thr
ENST00000644335.1:c.3779T>C ENSP00000496317.1:p.Met1260Thr
ENST00000644399.1:c.3898T>C
ENST00000644417.2:c.*4357T>C ENSP00000493912.2:n.*4357T>C
ENST00000645024.1:n.2061T>C
ENST00000645186.1:c.220T>C
ENST00000646388.1:c.3977T>C ENSP00000495921.1:p.Met1326Thr
ENST00000646464.2:c.*6726T>C ENSP00000496610.2:n.*6726T>C
ENST00000646634.1:n.2792T>C
ENST00000646674.1:n.1229T>C
ENST00000647042.1:n.1200T>C
ENST00000647180.1:n.1090T>C
XM_005255529.3:c.3848T>C XP_005255586.2:p.Met1283Thr
XM_005255531.3:c.3779T>C XP_005255588.2:p.Met1260Thr
XM_005255531.4:c.3779T>C XP_005255588.2:p.Met1260Thr
XM_011522636.1:c.4031T>C XP_011520938.1:p.Met1344Thr
XM_011522636.2:c.4031T>C XP_011520938.1:p.Met1344Thr
XM_011522637.1:c.4028T>C XP_011520939.1:p.Met1343Thr
XM_011522637.2:c.4028T>C XP_011520939.1:p.Met1343Thr
XM_011522638.1:c.3920T>C XP_011520940.1:p.Met1307Thr
XM_011522638.2:c.4193T>C XP_011520940.2:p.Met1398Thr
XM_011522639.1:c.3902T>C XP_011520941.1:p.Met1301Thr
XM_011522639.2:c.3902T>C XP_011520941.1:p.Met1301Thr
XM_011522640.1:c.3899T>C XP_011520942.1:p.Met1300Thr
XM_011522640.2:c.3899T>C XP_011520942.1:p.Met1300Thr
XM_011522641.1:c.3668T>C XP_011520943.1:p.Met1223Thr
XM_017023615.1:c.3974T>C XP_016879104.1:p.Met1325Thr
XM_017023616.1:c.3845T>C XP_016879105.1:p.Met1282Thr
XM_017023617.1:c.3941T>C XP_016879106.1:p.Met1314Thr
XM_017023618.1:c.2687T>C XP_016879107.1:p.Met896Thr
XM_024450413.1:c.3776T>C XP_024306181.1:p.Met1259Thr