Canonical Allele Identifier: CA394307634
Community Standard Title: NM_000548.5(TSC2):c.4739G>A (p.Arg1580Gln)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086269G>A , CM000678.2:g.2086269G>A GRCh38
NC_000016.9:g.2136270G>A , CM000678.1:g.2136270G>A GRCh37
NC_000016.8:g.2076271G>A NCBI36
NG_005895.1:g.41964G>A , LRG_487:g.41964G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4739G>A MANE Select NP_000539.2:p.Arg1580Gln
ENST00000219476.9:c.4739G>A MANE Select ENSP00000219476.3:p.Arg1580Gln
NM_000548.3:c.4739G>A , LRG_487t1:c.4739G>A NP_000539.2:p.Arg1580Gln
NM_000548.4:c.4739G>A NP_000539.2:p.Arg1580Gln
NM_001077183.1:c.4538G>A NP_001070651.1:p.Arg1513Gln
NM_001077183.2:c.4538G>A NP_001070651.1:p.Arg1513Gln
NM_001077183.3:c.4538G>A NP_001070651.1:p.Arg1513Gln
NM_001114382.1:c.4670G>A NP_001107854.1:p.Arg1557Gln
NM_001114382.2:c.4670G>A NP_001107854.1:p.Arg1557Gln
NM_001114382.3:c.4670G>A NP_001107854.1:p.Arg1557Gln
NM_001318827.1:c.4430G>A NP_001305756.1:p.Arg1477Gln
NM_001318827.2:c.4430G>A NP_001305756.1:p.Arg1477Gln
NM_001318829.1:c.4394G>A NP_001305758.1:p.Arg1465Gln
NM_001318829.2:c.4394G>A NP_001305758.1:p.Arg1465Gln
NM_001318831.1:c.4007G>A NP_001305760.1:p.Arg1336Gln
NM_001318831.2:c.4007G>A NP_001305760.1:p.Arg1336Gln
NM_001318832.1:c.4571G>A NP_001305761.1:p.Arg1524Gln
NM_001318832.2:c.4571G>A NP_001305761.1:p.Arg1524Gln
NM_001363528.1:c.4541G>A NP_001350457.1:p.Arg1514Gln
NM_001363528.2:c.4541G>A NP_001350457.1:p.Arg1514Gln
NM_001370404.1:c.4607G>A NP_001357333.1:p.Arg1536Gln
NM_001370405.1:c.4610G>A NP_001357334.1:p.Arg1537Gln
NM_021055.2:c.4610G>A NP_066399.2:p.Arg1537Gln
NM_021055.3:c.4610G>A NP_066399.2:p.Arg1537Gln
ENST00000219476.7:c.4739G>A ENSP00000219476.3:p.Arg1580Gln
ENST00000350773.8:c.4670G>A ENSP00000344383.4:p.Arg1557Gln
ENST00000350773.9:c.4670G>A ENSP00000344383.4:p.Arg1557Gln
ENST00000382538.10:c.4394G>A ENSP00000371978.6:p.Arg1465Gln
ENST00000401874.6:c.4538G>A ENSP00000384468.2:p.Arg1513Gln
ENST00000401874.7:c.4538G>A ENSP00000384468.2:p.Arg1513Gln
ENST00000439117.6:c.*3906G>A ENSP00000406980.2:n.*3906G>A
ENST00000439673.6:c.4430G>A ENSP00000399232.2:p.Arg1477Gln
ENST00000497886.5:n.2497G>A
ENST00000568454.5:c.4571G>A ENSP00000454487.1:p.Arg1524Gln
ENST00000568454.6:c.4571G>A ENSP00000454487.1:p.Arg1524Gln
ENST00000568566.6:c.*3088G>A ENSP00000455997.2:n.*3088G>A
ENST00000569110.1:c.921G>A
ENST00000569110.2:c.962G>A
ENST00000569930.1:n.1854G>A
ENST00000569930.2:n.2621G>A
ENST00000642206.2:c.4586G>A ENSP00000495146.2:p.Arg1529Gln
ENST00000642365.1:c.3393G>A
ENST00000642365.2:c.4736G>A ENSP00000495459.2:p.Arg1579Gln
ENST00000642561.1:c.4610G>A ENSP00000495099.1:p.Arg1537Gln
ENST00000642728.1:n.921G>A
ENST00000642791.1:n.336G>A
ENST00000642797.1:c.4541G>A ENSP00000493846.1:p.Arg1514Gln
ENST00000642936.1:c.4607G>A ENSP00000494514.1:p.Arg1536Gln
ENST00000643088.1:c.4532G>A ENSP00000494747.1:p.Arg1511Gln
ENST00000643177.1:n.753G>A
ENST00000643426.1:n.2387G>A
ENST00000643946.1:c.4664G>A ENSP00000495927.1:p.Arg1555Gln
ENST00000644043.1:c.4610G>A ENSP00000496262.1:p.Arg1537Gln
ENST00000644278.1:n.221G>A
ENST00000644329.1:c.4538G>A ENSP00000496611.1:p.Arg1513Gln
ENST00000644335.1:c.4535G>A ENSP00000496317.1:p.Arg1512Gln
ENST00000644399.1:c.4660G>A
ENST00000644417.2:c.*5252G>A ENSP00000493912.2:n.*5252G>A
ENST00000645024.1:n.2823G>A
ENST00000646388.1:c.4733G>A ENSP00000495921.1:p.Arg1578Gln
ENST00000646464.2:c.*7488G>A ENSP00000496610.2:n.*7488G>A
ENST00000646634.1:n.3554G>A
ENST00000646674.1:n.1991G>A
ENST00000647042.1:n.1962G>A
ENST00000647180.1:n.1852G>A
XM_005255529.3:c.4610G>A XP_005255586.2:p.Arg1537Gln
XM_005255531.3:c.4541G>A XP_005255588.2:p.Arg1514Gln
XM_005255531.4:c.4541G>A XP_005255588.2:p.Arg1514Gln
XM_011522636.1:c.4793G>A XP_011520938.1:p.Arg1598Gln
XM_011522636.2:c.4793G>A XP_011520938.1:p.Arg1598Gln
XM_011522637.1:c.4790G>A XP_011520939.1:p.Arg1597Gln
XM_011522637.2:c.4790G>A XP_011520939.1:p.Arg1597Gln
XM_011522638.1:c.4682G>A XP_011520940.1:p.Arg1561Gln
XM_011522638.2:c.4955G>A XP_011520940.2:p.Arg1652Gln
XM_011522639.1:c.4664G>A XP_011520941.1:p.Arg1555Gln
XM_011522639.2:c.4664G>A XP_011520941.1:p.Arg1555Gln
XM_011522640.1:c.4661G>A XP_011520942.1:p.Arg1554Gln
XM_011522640.2:c.4661G>A XP_011520942.1:p.Arg1554Gln
XM_011522641.1:c.4430G>A XP_011520943.1:p.Arg1477Gln
XM_017023615.1:c.4736G>A XP_016879104.1:p.Arg1579Gln
XM_017023616.1:c.4607G>A XP_016879105.1:p.Arg1536Gln
XM_017023617.1:c.4703G>A XP_016879106.1:p.Arg1568Gln
XM_017023618.1:c.3449G>A XP_016879107.1:p.Arg1150Gln
XM_024450413.1:c.4538G>A XP_024306181.1:p.Arg1513Gln