Canonical Allele Identifier: CA394297728
Community Standard Title: NM_000548.5(TSC2):c.3991G>C (p.Asp1331His)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2083802G>C , CM000678.2:g.2083802G>C GRCh38
NC_000016.9:g.2133803G>C , CM000678.1:g.2133803G>C GRCh37
NC_000016.8:g.2073804G>C NCBI36
NG_005895.1:g.39497G>C , LRG_487:g.39497G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.3991G>C MANE Select NP_000539.2:p.Asp1331His
ENST00000219476.9:c.3991G>C MANE Select ENSP00000219476.3:p.Asp1331His
NM_000548.3:c.3991G>C , LRG_487t1:c.3991G>C NP_000539.2:p.Asp1331His
NM_000548.4:c.3991G>C NP_000539.2:p.Asp1331His
NM_001077183.1:c.3790G>C NP_001070651.1:p.Asp1264His
NM_001077183.2:c.3790G>C NP_001070651.1:p.Asp1264His
NM_001077183.3:c.3790G>C NP_001070651.1:p.Asp1264His
NM_001114382.1:c.3922G>C NP_001107854.1:p.Asp1308His
NM_001114382.2:c.3922G>C NP_001107854.1:p.Asp1308His
NM_001114382.3:c.3922G>C NP_001107854.1:p.Asp1308His
NM_001318827.1:c.3682G>C NP_001305756.1:p.Asp1228His
NM_001318827.2:c.3682G>C NP_001305756.1:p.Asp1228His
NM_001318829.1:c.3646G>C NP_001305758.1:p.Asp1216His
NM_001318829.2:c.3646G>C NP_001305758.1:p.Asp1216His
NM_001318831.1:c.3259G>C NP_001305760.1:p.Asp1087His
NM_001318831.2:c.3259G>C NP_001305760.1:p.Asp1087His
NM_001318832.1:c.3823G>C NP_001305761.1:p.Asp1275His
NM_001318832.2:c.3823G>C NP_001305761.1:p.Asp1275His
NM_001363528.1:c.3793G>C NP_001350457.1:p.Asp1265His
NM_001363528.2:c.3793G>C NP_001350457.1:p.Asp1265His
NM_001370404.1:c.3859G>C NP_001357333.1:p.Asp1287His
NM_001370405.1:c.3862G>C NP_001357334.1:p.Asp1288His
NM_021055.2:c.3862G>C NP_066399.2:p.Asp1288His
NM_021055.3:c.3862G>C NP_066399.2:p.Asp1288His
ENST00000219476.7:c.3991G>C ENSP00000219476.3:p.Asp1331His
ENST00000350773.8:c.3922G>C ENSP00000344383.4:p.Asp1308His
ENST00000350773.9:c.3922G>C ENSP00000344383.4:p.Asp1308His
ENST00000382538.10:c.3646G>C ENSP00000371978.6:p.Asp1216His
ENST00000401874.6:c.3790G>C ENSP00000384468.2:p.Asp1264His
ENST00000401874.7:c.3790G>C ENSP00000384468.2:p.Asp1264His
ENST00000439117.6:c.*3158G>C ENSP00000406980.2:n.*3158G>C
ENST00000439673.6:c.3682G>C ENSP00000399232.2:p.Asp1228His
ENST00000497886.5:n.1749G>C
ENST00000568454.5:c.3823G>C ENSP00000454487.1:p.Asp1275His
ENST00000568454.6:c.3823G>C ENSP00000454487.1:p.Asp1275His
ENST00000568566.6:c.*2340G>C ENSP00000455997.2:n.*2340G>C
ENST00000569110.1:c.173G>C
ENST00000569110.2:c.227G>C
ENST00000569930.1:n.1106G>C
ENST00000569930.2:n.1873G>C
ENST00000642206.2:c.3838G>C ENSP00000495146.2:p.Asp1280His
ENST00000642365.1:c.2645G>C
ENST00000642365.2:c.3988G>C ENSP00000495459.2:p.Asp1330His
ENST00000642561.1:c.3862G>C ENSP00000495099.1:p.Asp1288His
ENST00000642728.1:n.173G>C
ENST00000642797.1:c.3793G>C ENSP00000493846.1:p.Asp1265His
ENST00000642936.1:c.3859G>C ENSP00000494514.1:p.Asp1287His
ENST00000643088.1:c.3790G>C ENSP00000494747.1:p.Asp1264His
ENST00000643177.1:n.5G>C
ENST00000643426.1:n.1639G>C
ENST00000643533.1:n.432G>C
ENST00000643946.1:c.3922G>C ENSP00000495927.1:p.Asp1308His
ENST00000644043.1:c.3862G>C ENSP00000496262.1:p.Asp1288His
ENST00000644329.1:c.3790G>C ENSP00000496611.1:p.Asp1264His
ENST00000644335.1:c.3793G>C ENSP00000496317.1:p.Asp1265His
ENST00000644399.1:c.3912G>C
ENST00000644417.2:c.*4371G>C ENSP00000493912.2:n.*4371G>C
ENST00000645024.1:n.2075G>C
ENST00000645186.1:c.234G>C
ENST00000646388.1:c.3991G>C ENSP00000495921.1:p.Asp1331His
ENST00000646464.2:c.*6740G>C ENSP00000496610.2:n.*6740G>C
ENST00000646634.1:n.2806G>C
ENST00000646674.1:n.1243G>C
ENST00000647042.1:n.1214G>C
ENST00000647180.1:n.1104G>C
XM_005255529.3:c.3862G>C XP_005255586.2:p.Asp1288His
XM_005255531.3:c.3793G>C XP_005255588.2:p.Asp1265His
XM_005255531.4:c.3793G>C XP_005255588.2:p.Asp1265His
XM_011522636.1:c.4045G>C XP_011520938.1:p.Asp1349His
XM_011522636.2:c.4045G>C XP_011520938.1:p.Asp1349His
XM_011522637.1:c.4042G>C XP_011520939.1:p.Asp1348His
XM_011522637.2:c.4042G>C XP_011520939.1:p.Asp1348His
XM_011522638.1:c.3934G>C XP_011520940.1:p.Asp1312His
XM_011522638.2:c.4207G>C XP_011520940.2:p.Asp1403His
XM_011522639.1:c.3916G>C XP_011520941.1:p.Asp1306His
XM_011522639.2:c.3916G>C XP_011520941.1:p.Asp1306His
XM_011522640.1:c.3913G>C XP_011520942.1:p.Asp1305His
XM_011522640.2:c.3913G>C XP_011520942.1:p.Asp1305His
XM_011522641.1:c.3682G>C XP_011520943.1:p.Asp1228His
XM_017023615.1:c.3988G>C XP_016879104.1:p.Asp1330His
XM_017023616.1:c.3859G>C XP_016879105.1:p.Asp1287His
XM_017023617.1:c.3955G>C XP_016879106.1:p.Asp1319His
XM_017023618.1:c.2701G>C XP_016879107.1:p.Asp901His
XM_024450413.1:c.3790G>C XP_024306181.1:p.Asp1264His