Canonical Allele Identifier: CA028182
Community Standard Title: NM_000548.5(TSC2):c.1113G>C (p.Gln371His)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2060807G>C , CM000678.2:g.2060807G>C GRCh38
NC_000016.9:g.2110808G>C , CM000678.1:g.2110808G>C GRCh37
NC_000016.8:g.2050809G>C NCBI36
NG_005895.1:g.16502G>C , LRG_487:g.16502G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.1113G>C MANE Select NP_000539.2:p.Gln371His
ENST00000219476.9:c.1113G>C MANE Select ENSP00000219476.3:p.Gln371His
NM_000548.3:c.1113G>C , LRG_487t1:c.1113G>C NP_000539.2:p.Gln371His
NM_000548.4:c.1113G>C NP_000539.2:p.Gln371His
NM_001077183.1:c.1113G>C NP_001070651.1:p.Gln371His
NM_001077183.2:c.1113G>C NP_001070651.1:p.Gln371His
NM_001077183.3:c.1113G>C NP_001070651.1:p.Gln371His
NM_001114382.1:c.1113G>C NP_001107854.1:p.Gln371His
NM_001114382.2:c.1113G>C NP_001107854.1:p.Gln371His
NM_001114382.3:c.1113G>C NP_001107854.1:p.Gln371His
NM_001318827.1:c.1002G>C NP_001305756.1:p.Gln334His
NM_001318827.2:c.1002G>C NP_001305756.1:p.Gln334His
NM_001318829.1:c.966G>C NP_001305758.1:p.Gln322His
NM_001318829.2:c.966G>C NP_001305758.1:p.Gln322His
NM_001318831.1:c.513G>C NP_001305760.1:p.Gln171His
NM_001318831.2:c.513G>C NP_001305760.1:p.Gln171His
NM_001318832.1:c.1146G>C NP_001305761.1:p.Gln382His
NM_001318832.2:c.1146G>C NP_001305761.1:p.Gln382His
NM_001363528.1:c.1113G>C NP_001350457.1:p.Gln371His
NM_001363528.2:c.1113G>C NP_001350457.1:p.Gln371His
NM_001370404.1:c.1113G>C NP_001357333.1:p.Gln371His
NM_001370405.1:c.1113G>C NP_001357334.1:p.Gln371His
NM_021055.2:c.1113G>C NP_066399.2:p.Gln371His
NM_021055.3:c.1113G>C NP_066399.2:p.Gln371His
ENST00000219476.7:c.1113G>C ENSP00000219476.3:p.Gln371His
ENST00000350773.8:c.1113G>C ENSP00000344383.4:p.Gln371His
ENST00000350773.9:c.1113G>C ENSP00000344383.4:p.Gln371His
ENST00000382538.10:c.966G>C ENSP00000371978.6:p.Gln322His
ENST00000401874.6:c.1113G>C ENSP00000384468.2:p.Gln371His
ENST00000401874.7:c.1113G>C ENSP00000384468.2:p.Gln371His
ENST00000439117.6:c.*412G>C ENSP00000406980.2:n.*412G>C
ENST00000439673.6:c.1002G>C ENSP00000399232.2:p.Gln334His
ENST00000467949.1:c.412-1690G>C ENSP00000454997.1:n.412-1690G>C
ENST00000467949.2:n.428-1690G>C
ENST00000568454.5:c.1146G>C ENSP00000454487.1:p.Gln382His
ENST00000568454.6:c.1146G>C ENSP00000454487.1:p.Gln382His
ENST00000568566.6:c.1113G>C ENSP00000455997.2:p.Gln371His
ENST00000642206.2:c.1158G>C ENSP00000495146.2:p.Gln386His
ENST00000642365.2:c.1113G>C ENSP00000495459.2:p.Gln371His
ENST00000642561.1:c.1113G>C ENSP00000495099.1:p.Gln371His
ENST00000642797.1:c.1113G>C ENSP00000493846.1:p.Gln371His
ENST00000642812.1:n.1158G>C
ENST00000642936.1:c.1113G>C ENSP00000494514.1:p.Gln371His
ENST00000643088.1:c.1113G>C ENSP00000494747.1:p.Gln371His
ENST00000643149.1:n.2066G>C
ENST00000643298.1:c.*615G>C ENSP00000494393.1:n.*615G>C
ENST00000643745.1:c.1113G>C ENSP00000495948.1:p.Gln371His
ENST00000643946.1:c.1113G>C ENSP00000495927.1:p.Gln371His
ENST00000644043.1:c.1113G>C ENSP00000496262.1:p.Gln371His
ENST00000644135.1:c.1113G>C ENSP00000495644.1:p.Gln371His
ENST00000644222.1:n.1200G>C
ENST00000644329.1:c.1113G>C ENSP00000496611.1:p.Gln371His
ENST00000644335.1:c.1113G>C ENSP00000496317.1:p.Gln371His
ENST00000644399.1:c.1106G>C
ENST00000644417.2:c.*550G>C ENSP00000493912.2:n.*550G>C
ENST00000644665.1:n.1230G>C
ENST00000645591.1:n.2084G>C
ENST00000646388.1:c.1113G>C ENSP00000495921.1:p.Gln371His
ENST00000646464.2:c.*718G>C ENSP00000496610.2:n.*718G>C
ENST00000646823.1:n.1527G>C
ENST00000647234.1:n.1814G>C
ENST00000647242.1:n.1781G>C
XM_005255529.3:c.1113G>C XP_005255586.2:p.Gln371His
XM_005255531.3:c.1113G>C XP_005255588.2:p.Gln371His
XM_005255531.4:c.1113G>C XP_005255588.2:p.Gln371His
XM_011522636.1:c.1113G>C XP_011520938.1:p.Gln371His
XM_011522636.2:c.1113G>C XP_011520938.1:p.Gln371His
XM_011522637.1:c.1113G>C XP_011520939.1:p.Gln371His
XM_011522637.2:c.1113G>C XP_011520939.1:p.Gln371His
XM_011522638.1:c.1002G>C XP_011520940.1:p.Gln334His
XM_011522638.2:c.1275G>C XP_011520940.2:p.Gln425His
XM_011522639.1:c.1113G>C XP_011520941.1:p.Gln371His
XM_011522639.2:c.1113G>C XP_011520941.1:p.Gln371His
XM_011522640.1:c.1113G>C XP_011520942.1:p.Gln371His
XM_011522640.2:c.1113G>C XP_011520942.1:p.Gln371His
XM_011522641.1:c.1002G>C XP_011520943.1:p.Gln334His
XM_017023615.1:c.1113G>C XP_016879104.1:p.Gln371His
XM_017023616.1:c.1113G>C XP_016879105.1:p.Gln371His
XM_017023617.1:c.1275G>C XP_016879106.1:p.Gln425His
XM_017023618.1:c.-319G>C XP_016879107.1:n.-319G>C
XM_024450413.1:c.1113G>C XP_024306181.1:p.Gln371His