Canonical Allele Identifier: CA394307959
Community Standard Title: NM_000548.5(TSC2):c.4784G>A (p.Gly1595Glu)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086314G>A , CM000678.2:g.2086314G>A GRCh38
NC_000016.9:g.2136315G>A , CM000678.1:g.2136315G>A GRCh37
NC_000016.8:g.2076316G>A NCBI36
NG_005895.1:g.42009G>A , LRG_487:g.42009G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4784G>A MANE Select NP_000539.2:p.Gly1595Glu
ENST00000219476.9:c.4784G>A MANE Select ENSP00000219476.3:p.Gly1595Glu
NM_000548.3:c.4784G>A , LRG_487t1:c.4784G>A NP_000539.2:p.Gly1595Glu
NM_000548.4:c.4784G>A NP_000539.2:p.Gly1595Glu
NM_001077183.1:c.4583G>A NP_001070651.1:p.Gly1528Glu
NM_001077183.2:c.4583G>A NP_001070651.1:p.Gly1528Glu
NM_001077183.3:c.4583G>A NP_001070651.1:p.Gly1528Glu
NM_001114382.1:c.4715G>A NP_001107854.1:p.Gly1572Glu
NM_001114382.2:c.4715G>A NP_001107854.1:p.Gly1572Glu
NM_001114382.3:c.4715G>A NP_001107854.1:p.Gly1572Glu
NM_001318827.1:c.4475G>A NP_001305756.1:p.Gly1492Glu
NM_001318827.2:c.4475G>A NP_001305756.1:p.Gly1492Glu
NM_001318829.1:c.4439G>A NP_001305758.1:p.Gly1480Glu
NM_001318829.2:c.4439G>A NP_001305758.1:p.Gly1480Glu
NM_001318831.1:c.4052G>A NP_001305760.1:p.Gly1351Glu
NM_001318831.2:c.4052G>A NP_001305760.1:p.Gly1351Glu
NM_001318832.1:c.4616G>A NP_001305761.1:p.Gly1539Glu
NM_001318832.2:c.4616G>A NP_001305761.1:p.Gly1539Glu
NM_001363528.1:c.4586G>A NP_001350457.1:p.Gly1529Glu
NM_001363528.2:c.4586G>A NP_001350457.1:p.Gly1529Glu
NM_001370404.1:c.4652G>A NP_001357333.1:p.Gly1551Glu
NM_001370405.1:c.4655G>A NP_001357334.1:p.Gly1552Glu
NM_021055.2:c.4655G>A NP_066399.2:p.Gly1552Glu
NM_021055.3:c.4655G>A NP_066399.2:p.Gly1552Glu
ENST00000219476.7:c.4784G>A ENSP00000219476.3:p.Gly1595Glu
ENST00000350773.8:c.4715G>A ENSP00000344383.4:p.Gly1572Glu
ENST00000350773.9:c.4715G>A ENSP00000344383.4:p.Gly1572Glu
ENST00000382538.10:c.4439G>A ENSP00000371978.6:p.Gly1480Glu
ENST00000401874.6:c.4583G>A ENSP00000384468.2:p.Gly1528Glu
ENST00000401874.7:c.4583G>A ENSP00000384468.2:p.Gly1528Glu
ENST00000439117.6:c.*3951G>A ENSP00000406980.2:n.*3951G>A
ENST00000439673.6:c.4475G>A ENSP00000399232.2:p.Gly1492Glu
ENST00000497886.5:n.2542G>A
ENST00000568454.5:c.4616G>A ENSP00000454487.1:p.Gly1539Glu
ENST00000568454.6:c.4616G>A ENSP00000454487.1:p.Gly1539Glu
ENST00000568566.6:c.*3133G>A ENSP00000455997.2:n.*3133G>A
ENST00000569110.1:c.966G>A
ENST00000569110.2:c.1007G>A
ENST00000569930.1:n.1899G>A
ENST00000569930.2:n.2666G>A
ENST00000642206.2:c.4631G>A ENSP00000495146.2:p.Gly1544Glu
ENST00000642365.1:c.3438G>A
ENST00000642365.2:c.4781G>A ENSP00000495459.2:p.Gly1594Glu
ENST00000642561.1:c.4655G>A ENSP00000495099.1:p.Gly1552Glu
ENST00000642728.1:n.966G>A
ENST00000642791.1:n.381G>A
ENST00000642797.1:c.4586G>A ENSP00000493846.1:p.Gly1529Glu
ENST00000642936.1:c.4652G>A ENSP00000494514.1:p.Gly1551Glu
ENST00000643088.1:c.4577G>A ENSP00000494747.1:p.Gly1526Glu
ENST00000643177.1:n.798G>A
ENST00000643426.1:n.2432G>A
ENST00000643946.1:c.4709G>A ENSP00000495927.1:p.Gly1570Glu
ENST00000644043.1:c.4655G>A ENSP00000496262.1:p.Gly1552Glu
ENST00000644278.1:n.266G>A
ENST00000644329.1:c.4583G>A ENSP00000496611.1:p.Gly1528Glu
ENST00000644335.1:c.4580G>A ENSP00000496317.1:p.Gly1527Glu
ENST00000644399.1:c.4705G>A
ENST00000644417.2:c.*5297G>A ENSP00000493912.2:n.*5297G>A
ENST00000645024.1:n.2868G>A
ENST00000646388.1:c.4778G>A ENSP00000495921.1:p.Gly1593Glu
ENST00000646464.2:c.*7533G>A ENSP00000496610.2:n.*7533G>A
ENST00000646634.1:n.3599G>A
ENST00000646674.1:n.2036G>A
ENST00000647042.1:n.2007G>A
ENST00000647180.1:n.1897G>A
XM_005255529.3:c.4655G>A XP_005255586.2:p.Gly1552Glu
XM_005255531.3:c.4586G>A XP_005255588.2:p.Gly1529Glu
XM_005255531.4:c.4586G>A XP_005255588.2:p.Gly1529Glu
XM_011522636.1:c.4838G>A XP_011520938.1:p.Gly1613Glu
XM_011522636.2:c.4838G>A XP_011520938.1:p.Gly1613Glu
XM_011522637.1:c.4835G>A XP_011520939.1:p.Gly1612Glu
XM_011522637.2:c.4835G>A XP_011520939.1:p.Gly1612Glu
XM_011522638.1:c.4727G>A XP_011520940.1:p.Gly1576Glu
XM_011522638.2:c.5000G>A XP_011520940.2:p.Gly1667Glu
XM_011522639.1:c.4709G>A XP_011520941.1:p.Gly1570Glu
XM_011522639.2:c.4709G>A XP_011520941.1:p.Gly1570Glu
XM_011522640.1:c.4706G>A XP_011520942.1:p.Gly1569Glu
XM_011522640.2:c.4706G>A XP_011520942.1:p.Gly1569Glu
XM_011522641.1:c.4475G>A XP_011520943.1:p.Gly1492Glu
XM_017023615.1:c.4781G>A XP_016879104.1:p.Gly1594Glu
XM_017023616.1:c.4652G>A XP_016879105.1:p.Gly1551Glu
XM_017023617.1:c.4748G>A XP_016879106.1:p.Gly1583Glu
XM_017023618.1:c.3494G>A XP_016879107.1:p.Gly1165Glu
XM_024450413.1:c.4583G>A XP_024306181.1:p.Gly1528Glu