Canonical Allele Identifier: CA394297381
Community Standard Title: NM_000548.5(TSC2):c.3947G>A (p.Gly1316Glu)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2083758G>A , CM000678.2:g.2083758G>A GRCh38
NC_000016.9:g.2133759G>A , CM000678.1:g.2133759G>A GRCh37
NC_000016.8:g.2073760G>A NCBI36
NG_005895.1:g.39453G>A , LRG_487:g.39453G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.3947G>A MANE Select NP_000539.2:p.Gly1316Glu
ENST00000219476.9:c.3947G>A MANE Select ENSP00000219476.3:p.Gly1316Glu
NM_000548.3:c.3947G>A , LRG_487t1:c.3947G>A NP_000539.2:p.Gly1316Glu
NM_000548.4:c.3947G>A NP_000539.2:p.Gly1316Glu
NM_001077183.1:c.3746G>A NP_001070651.1:p.Gly1249Glu
NM_001077183.2:c.3746G>A NP_001070651.1:p.Gly1249Glu
NM_001077183.3:c.3746G>A NP_001070651.1:p.Gly1249Glu
NM_001114382.1:c.3878G>A NP_001107854.1:p.Gly1293Glu
NM_001114382.2:c.3878G>A NP_001107854.1:p.Gly1293Glu
NM_001114382.3:c.3878G>A NP_001107854.1:p.Gly1293Glu
NM_001318827.1:c.3638G>A NP_001305756.1:p.Gly1213Glu
NM_001318827.2:c.3638G>A NP_001305756.1:p.Gly1213Glu
NM_001318829.1:c.3602G>A NP_001305758.1:p.Gly1201Glu
NM_001318829.2:c.3602G>A NP_001305758.1:p.Gly1201Glu
NM_001318831.1:c.3215G>A NP_001305760.1:p.Gly1072Glu
NM_001318831.2:c.3215G>A NP_001305760.1:p.Gly1072Glu
NM_001318832.1:c.3779G>A NP_001305761.1:p.Gly1260Glu
NM_001318832.2:c.3779G>A NP_001305761.1:p.Gly1260Glu
NM_001363528.1:c.3749G>A NP_001350457.1:p.Gly1250Glu
NM_001363528.2:c.3749G>A NP_001350457.1:p.Gly1250Glu
NM_001370404.1:c.3815G>A NP_001357333.1:p.Gly1272Glu
NM_001370405.1:c.3818G>A NP_001357334.1:p.Gly1273Glu
NM_021055.2:c.3818G>A NP_066399.2:p.Gly1273Glu
NM_021055.3:c.3818G>A NP_066399.2:p.Gly1273Glu
ENST00000219476.7:c.3947G>A ENSP00000219476.3:p.Gly1316Glu
ENST00000350773.8:c.3878G>A ENSP00000344383.4:p.Gly1293Glu
ENST00000350773.9:c.3878G>A ENSP00000344383.4:p.Gly1293Glu
ENST00000382538.10:c.3602G>A ENSP00000371978.6:p.Gly1201Glu
ENST00000401874.6:c.3746G>A ENSP00000384468.2:p.Gly1249Glu
ENST00000401874.7:c.3746G>A ENSP00000384468.2:p.Gly1249Glu
ENST00000439117.6:c.*3114G>A ENSP00000406980.2:n.*3114G>A
ENST00000439673.6:c.3638G>A ENSP00000399232.2:p.Gly1213Glu
ENST00000497886.5:n.1705G>A
ENST00000568454.5:c.3779G>A ENSP00000454487.1:p.Gly1260Glu
ENST00000568454.6:c.3779G>A ENSP00000454487.1:p.Gly1260Glu
ENST00000568566.6:c.*2296G>A ENSP00000455997.2:n.*2296G>A
ENST00000569110.1:c.129G>A
ENST00000569110.2:c.183G>A
ENST00000569930.1:n.1062G>A
ENST00000569930.2:n.1829G>A
ENST00000642206.2:c.3794G>A ENSP00000495146.2:p.Gly1265Glu
ENST00000642365.1:c.2601G>A
ENST00000642365.2:c.3944G>A ENSP00000495459.2:p.Gly1315Glu
ENST00000642561.1:c.3818G>A ENSP00000495099.1:p.Gly1273Glu
ENST00000642728.1:n.129G>A
ENST00000642797.1:c.3749G>A ENSP00000493846.1:p.Gly1250Glu
ENST00000642936.1:c.3815G>A ENSP00000494514.1:p.Gly1272Glu
ENST00000643088.1:c.3746G>A ENSP00000494747.1:p.Gly1249Glu
ENST00000643426.1:n.1595G>A
ENST00000643533.1:n.388G>A
ENST00000643946.1:c.3878G>A ENSP00000495927.1:p.Gly1293Glu
ENST00000644043.1:c.3818G>A ENSP00000496262.1:p.Gly1273Glu
ENST00000644329.1:c.3746G>A ENSP00000496611.1:p.Gly1249Glu
ENST00000644335.1:c.3749G>A ENSP00000496317.1:p.Gly1250Glu
ENST00000644399.1:c.3868G>A
ENST00000644417.2:c.*4327G>A ENSP00000493912.2:n.*4327G>A
ENST00000645024.1:n.2031G>A
ENST00000645186.1:c.190G>A
ENST00000646388.1:c.3947G>A ENSP00000495921.1:p.Gly1316Glu
ENST00000646464.2:c.*6696G>A ENSP00000496610.2:n.*6696G>A
ENST00000646634.1:n.2762G>A
ENST00000646674.1:n.1199G>A
ENST00000647042.1:n.1170G>A
ENST00000647180.1:n.1060G>A
XM_005255529.3:c.3818G>A XP_005255586.2:p.Gly1273Glu
XM_005255531.3:c.3749G>A XP_005255588.2:p.Gly1250Glu
XM_005255531.4:c.3749G>A XP_005255588.2:p.Gly1250Glu
XM_011522636.1:c.4001G>A XP_011520938.1:p.Gly1334Glu
XM_011522636.2:c.4001G>A XP_011520938.1:p.Gly1334Glu
XM_011522637.1:c.3998G>A XP_011520939.1:p.Gly1333Glu
XM_011522637.2:c.3998G>A XP_011520939.1:p.Gly1333Glu
XM_011522638.1:c.3890G>A XP_011520940.1:p.Gly1297Glu
XM_011522638.2:c.4163G>A XP_011520940.2:p.Gly1388Glu
XM_011522639.1:c.3872G>A XP_011520941.1:p.Gly1291Glu
XM_011522639.2:c.3872G>A XP_011520941.1:p.Gly1291Glu
XM_011522640.1:c.3869G>A XP_011520942.1:p.Gly1290Glu
XM_011522640.2:c.3869G>A XP_011520942.1:p.Gly1290Glu
XM_011522641.1:c.3638G>A XP_011520943.1:p.Gly1213Glu
XM_017023615.1:c.3944G>A XP_016879104.1:p.Gly1315Glu
XM_017023616.1:c.3815G>A XP_016879105.1:p.Gly1272Glu
XM_017023617.1:c.3911G>A XP_016879106.1:p.Gly1304Glu
XM_017023618.1:c.2657G>A XP_016879107.1:p.Gly886Glu
XM_024450413.1:c.3746G>A XP_024306181.1:p.Gly1249Glu