Canonical Allele Identifier: CA493043545
Community Standard Title: NM_000548.5(TSC2):c.4749G>A (p.Glu1583=)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086279G>A , CM000678.2:g.2086279G>A GRCh38
NC_000016.9:g.2136280G>A , CM000678.1:g.2136280G>A GRCh37
NC_000016.8:g.2076281G>A NCBI36
NG_005895.1:g.41974G>A , LRG_487:g.41974G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4749G>A MANE Select NP_000539.2:p.Glu1583=
ENST00000219476.9:c.4749G>A MANE Select ENSP00000219476.3:p.Glu1583=
NM_000548.3:c.4749G>A , LRG_487t1:c.4749G>A NP_000539.2:p.Glu1583=
NM_000548.4:c.4749G>A NP_000539.2:p.Glu1583=
NM_001077183.1:c.4548G>A NP_001070651.1:p.Glu1516=
NM_001077183.2:c.4548G>A NP_001070651.1:p.Glu1516=
NM_001077183.3:c.4548G>A NP_001070651.1:p.Glu1516=
NM_001114382.1:c.4680G>A NP_001107854.1:p.Glu1560=
NM_001114382.2:c.4680G>A NP_001107854.1:p.Glu1560=
NM_001114382.3:c.4680G>A NP_001107854.1:p.Glu1560=
NM_001318827.1:c.4440G>A NP_001305756.1:p.Glu1480=
NM_001318827.2:c.4440G>A NP_001305756.1:p.Glu1480=
NM_001318829.1:c.4404G>A NP_001305758.1:p.Glu1468=
NM_001318829.2:c.4404G>A NP_001305758.1:p.Glu1468=
NM_001318831.1:c.4017G>A NP_001305760.1:p.Glu1339=
NM_001318831.2:c.4017G>A NP_001305760.1:p.Glu1339=
NM_001318832.1:c.4581G>A NP_001305761.1:p.Glu1527=
NM_001318832.2:c.4581G>A NP_001305761.1:p.Glu1527=
NM_001363528.1:c.4551G>A NP_001350457.1:p.Glu1517=
NM_001363528.2:c.4551G>A NP_001350457.1:p.Glu1517=
NM_001370404.1:c.4617G>A NP_001357333.1:p.Glu1539=
NM_001370405.1:c.4620G>A NP_001357334.1:p.Glu1540=
NM_021055.2:c.4620G>A NP_066399.2:p.Glu1540=
NM_021055.3:c.4620G>A NP_066399.2:p.Glu1540=
ENST00000219476.7:c.4749G>A ENSP00000219476.3:p.Glu1583=
ENST00000350773.8:c.4680G>A ENSP00000344383.4:p.Glu1560=
ENST00000350773.9:c.4680G>A ENSP00000344383.4:p.Glu1560=
ENST00000382538.10:c.4404G>A ENSP00000371978.6:p.Glu1468=
ENST00000401874.6:c.4548G>A ENSP00000384468.2:p.Glu1516=
ENST00000401874.7:c.4548G>A ENSP00000384468.2:p.Glu1516=
ENST00000439117.6:c.*3916G>A ENSP00000406980.2:n.*3916G>A
ENST00000439673.6:c.4440G>A ENSP00000399232.2:p.Glu1480=
ENST00000497886.5:n.2507G>A
ENST00000568454.5:c.4581G>A ENSP00000454487.1:p.Glu1527=
ENST00000568454.6:c.4581G>A ENSP00000454487.1:p.Glu1527=
ENST00000568566.6:c.*3098G>A ENSP00000455997.2:n.*3098G>A
ENST00000569110.1:c.931G>A
ENST00000569110.2:c.972G>A
ENST00000569930.1:n.1864G>A
ENST00000569930.2:n.2631G>A
ENST00000642206.2:c.4596G>A ENSP00000495146.2:p.Glu1532=
ENST00000642365.1:c.3403G>A
ENST00000642365.2:c.4746G>A ENSP00000495459.2:p.Glu1582=
ENST00000642561.1:c.4620G>A ENSP00000495099.1:p.Glu1540=
ENST00000642728.1:n.931G>A
ENST00000642791.1:n.346G>A
ENST00000642797.1:c.4551G>A ENSP00000493846.1:p.Glu1517=
ENST00000642936.1:c.4617G>A ENSP00000494514.1:p.Glu1539=
ENST00000643088.1:c.4542G>A ENSP00000494747.1:p.Glu1514=
ENST00000643177.1:n.763G>A
ENST00000643426.1:n.2397G>A
ENST00000643946.1:c.4674G>A ENSP00000495927.1:p.Glu1558=
ENST00000644043.1:c.4620G>A ENSP00000496262.1:p.Glu1540=
ENST00000644278.1:n.231G>A
ENST00000644329.1:c.4548G>A ENSP00000496611.1:p.Glu1516=
ENST00000644335.1:c.4545G>A ENSP00000496317.1:p.Glu1515=
ENST00000644399.1:c.4670G>A
ENST00000644417.2:c.*5262G>A ENSP00000493912.2:n.*5262G>A
ENST00000645024.1:n.2833G>A
ENST00000646388.1:c.4743G>A ENSP00000495921.1:p.Glu1581=
ENST00000646464.2:c.*7498G>A ENSP00000496610.2:n.*7498G>A
ENST00000646634.1:n.3564G>A
ENST00000646674.1:n.2001G>A
ENST00000647042.1:n.1972G>A
ENST00000647180.1:n.1862G>A
XM_005255529.3:c.4620G>A XP_005255586.2:p.Glu1540=
XM_005255531.3:c.4551G>A XP_005255588.2:p.Glu1517=
XM_005255531.4:c.4551G>A XP_005255588.2:p.Glu1517=
XM_011522636.1:c.4803G>A XP_011520938.1:p.Glu1601=
XM_011522636.2:c.4803G>A XP_011520938.1:p.Glu1601=
XM_011522637.1:c.4800G>A XP_011520939.1:p.Glu1600=
XM_011522637.2:c.4800G>A XP_011520939.1:p.Glu1600=
XM_011522638.1:c.4692G>A XP_011520940.1:p.Glu1564=
XM_011522638.2:c.4965G>A XP_011520940.2:p.Glu1655=
XM_011522639.1:c.4674G>A XP_011520941.1:p.Glu1558=
XM_011522639.2:c.4674G>A XP_011520941.1:p.Glu1558=
XM_011522640.1:c.4671G>A XP_011520942.1:p.Glu1557=
XM_011522640.2:c.4671G>A XP_011520942.1:p.Glu1557=
XM_011522641.1:c.4440G>A XP_011520943.1:p.Glu1480=
XM_017023615.1:c.4746G>A XP_016879104.1:p.Glu1582=
XM_017023616.1:c.4617G>A XP_016879105.1:p.Glu1539=
XM_017023617.1:c.4713G>A XP_016879106.1:p.Glu1571=
XM_017023618.1:c.3459G>A XP_016879107.1:p.Glu1153=
XM_024450413.1:c.4548G>A XP_024306181.1:p.Glu1516=