Canonical Allele Identifier: CA276756224
Community Standard Title: NM_000548.5(TSC2):c.4709G>A (p.Arg1570Lys)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086239G>A , CM000678.2:g.2086239G>A GRCh38
NC_000016.9:g.2136240G>A , CM000678.1:g.2136240G>A GRCh37
NC_000016.8:g.2076241G>A NCBI36
NG_005895.1:g.41934G>A , LRG_487:g.41934G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4709G>A MANE Select NP_000539.2:p.Arg1570Lys
ENST00000219476.9:c.4709G>A MANE Select ENSP00000219476.3:p.Arg1570Lys
NM_000548.3:c.4709G>A , LRG_487t1:c.4709G>A NP_000539.2:p.Arg1570Lys
NM_000548.4:c.4709G>A NP_000539.2:p.Arg1570Lys
NM_001077183.1:c.4508G>A NP_001070651.1:p.Arg1503Lys
NM_001077183.2:c.4508G>A NP_001070651.1:p.Arg1503Lys
NM_001077183.3:c.4508G>A NP_001070651.1:p.Arg1503Lys
NM_001114382.1:c.4640G>A NP_001107854.1:p.Arg1547Lys
NM_001114382.2:c.4640G>A NP_001107854.1:p.Arg1547Lys
NM_001114382.3:c.4640G>A NP_001107854.1:p.Arg1547Lys
NM_001318827.1:c.4400G>A NP_001305756.1:p.Arg1467Lys
NM_001318827.2:c.4400G>A NP_001305756.1:p.Arg1467Lys
NM_001318829.1:c.4364G>A NP_001305758.1:p.Arg1455Lys
NM_001318829.2:c.4364G>A NP_001305758.1:p.Arg1455Lys
NM_001318831.1:c.3977G>A NP_001305760.1:p.Arg1326Lys
NM_001318831.2:c.3977G>A NP_001305760.1:p.Arg1326Lys
NM_001318832.1:c.4541G>A NP_001305761.1:p.Arg1514Lys
NM_001318832.2:c.4541G>A NP_001305761.1:p.Arg1514Lys
NM_001363528.1:c.4511G>A NP_001350457.1:p.Arg1504Lys
NM_001363528.2:c.4511G>A NP_001350457.1:p.Arg1504Lys
NM_001370404.1:c.4577G>A NP_001357333.1:p.Arg1526Lys
NM_001370405.1:c.4580G>A NP_001357334.1:p.Arg1527Lys
NM_021055.2:c.4580G>A NP_066399.2:p.Arg1527Lys
NM_021055.3:c.4580G>A NP_066399.2:p.Arg1527Lys
ENST00000219476.7:c.4709G>A ENSP00000219476.3:p.Arg1570Lys
ENST00000350773.8:c.4640G>A ENSP00000344383.4:p.Arg1547Lys
ENST00000350773.9:c.4640G>A ENSP00000344383.4:p.Arg1547Lys
ENST00000382538.10:c.4364G>A ENSP00000371978.6:p.Arg1455Lys
ENST00000401874.6:c.4508G>A ENSP00000384468.2:p.Arg1503Lys
ENST00000401874.7:c.4508G>A ENSP00000384468.2:p.Arg1503Lys
ENST00000439117.6:c.*3876G>A ENSP00000406980.2:n.*3876G>A
ENST00000439673.6:c.4400G>A ENSP00000399232.2:p.Arg1467Lys
ENST00000497886.5:n.2467G>A
ENST00000568454.5:c.4541G>A ENSP00000454487.1:p.Arg1514Lys
ENST00000568454.6:c.4541G>A ENSP00000454487.1:p.Arg1514Lys
ENST00000568566.6:c.*3058G>A ENSP00000455997.2:n.*3058G>A
ENST00000569110.1:c.891G>A
ENST00000569110.2:c.932G>A
ENST00000569930.1:n.1824G>A
ENST00000569930.2:n.2591G>A
ENST00000642206.2:c.4556G>A ENSP00000495146.2:p.Arg1519Lys
ENST00000642365.1:c.3363G>A
ENST00000642365.2:c.4706G>A ENSP00000495459.2:p.Arg1569Lys
ENST00000642561.1:c.4580G>A ENSP00000495099.1:p.Arg1527Lys
ENST00000642728.1:n.891G>A
ENST00000642791.1:n.306G>A
ENST00000642797.1:c.4511G>A ENSP00000493846.1:p.Arg1504Lys
ENST00000642936.1:c.4577G>A ENSP00000494514.1:p.Arg1526Lys
ENST00000643088.1:c.4502G>A ENSP00000494747.1:p.Arg1501Lys
ENST00000643177.1:n.723G>A
ENST00000643426.1:n.2357G>A
ENST00000643946.1:c.4634G>A ENSP00000495927.1:p.Arg1545Lys
ENST00000644043.1:c.4580G>A ENSP00000496262.1:p.Arg1527Lys
ENST00000644278.1:n.191G>A
ENST00000644329.1:c.4508G>A ENSP00000496611.1:p.Arg1503Lys
ENST00000644335.1:c.4505G>A ENSP00000496317.1:p.Arg1502Lys
ENST00000644399.1:c.4630G>A
ENST00000644417.2:c.*5222G>A ENSP00000493912.2:n.*5222G>A
ENST00000645024.1:n.2793G>A
ENST00000646388.1:c.4703G>A ENSP00000495921.1:p.Arg1568Lys
ENST00000646464.2:c.*7458G>A ENSP00000496610.2:n.*7458G>A
ENST00000646634.1:n.3524G>A
ENST00000646674.1:n.1961G>A
ENST00000647042.1:n.1932G>A
ENST00000647180.1:n.1822G>A
XM_005255529.3:c.4580G>A XP_005255586.2:p.Arg1527Lys
XM_005255531.3:c.4511G>A XP_005255588.2:p.Arg1504Lys
XM_005255531.4:c.4511G>A XP_005255588.2:p.Arg1504Lys
XM_011522636.1:c.4763G>A XP_011520938.1:p.Arg1588Lys
XM_011522636.2:c.4763G>A XP_011520938.1:p.Arg1588Lys
XM_011522637.1:c.4760G>A XP_011520939.1:p.Arg1587Lys
XM_011522637.2:c.4760G>A XP_011520939.1:p.Arg1587Lys
XM_011522638.1:c.4652G>A XP_011520940.1:p.Arg1551Lys
XM_011522638.2:c.4925G>A XP_011520940.2:p.Arg1642Lys
XM_011522639.1:c.4634G>A XP_011520941.1:p.Arg1545Lys
XM_011522639.2:c.4634G>A XP_011520941.1:p.Arg1545Lys
XM_011522640.1:c.4631G>A XP_011520942.1:p.Arg1544Lys
XM_011522640.2:c.4631G>A XP_011520942.1:p.Arg1544Lys
XM_011522641.1:c.4400G>A XP_011520943.1:p.Arg1467Lys
XM_017023615.1:c.4706G>A XP_016879104.1:p.Arg1569Lys
XM_017023616.1:c.4577G>A XP_016879105.1:p.Arg1526Lys
XM_017023617.1:c.4673G>A XP_016879106.1:p.Arg1558Lys
XM_017023618.1:c.3419G>A XP_016879107.1:p.Arg1140Lys
XM_024450413.1:c.4508G>A XP_024306181.1:p.Arg1503Lys