Canonical Allele Identifier: CA394307430
Community Standard Title: NM_000548.5(TSC2):c.4715C>T (p.Thr1572Met)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086245C>T , CM000678.2:g.2086245C>T GRCh38
NC_000016.9:g.2136246C>T , CM000678.1:g.2136246C>T GRCh37
NC_000016.8:g.2076247C>T NCBI36
NG_005895.1:g.41940C>T , LRG_487:g.41940C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4715C>T MANE Select NP_000539.2:p.Thr1572Met
ENST00000219476.9:c.4715C>T MANE Select ENSP00000219476.3:p.Thr1572Met
NM_000548.3:c.4715C>T , LRG_487t1:c.4715C>T NP_000539.2:p.Thr1572Met
NM_000548.4:c.4715C>T NP_000539.2:p.Thr1572Met
NM_001077183.1:c.4514C>T NP_001070651.1:p.Thr1505Met
NM_001077183.2:c.4514C>T NP_001070651.1:p.Thr1505Met
NM_001077183.3:c.4514C>T NP_001070651.1:p.Thr1505Met
NM_001114382.1:c.4646C>T NP_001107854.1:p.Thr1549Met
NM_001114382.2:c.4646C>T NP_001107854.1:p.Thr1549Met
NM_001114382.3:c.4646C>T NP_001107854.1:p.Thr1549Met
NM_001318827.1:c.4406C>T NP_001305756.1:p.Thr1469Met
NM_001318827.2:c.4406C>T NP_001305756.1:p.Thr1469Met
NM_001318829.1:c.4370C>T NP_001305758.1:p.Thr1457Met
NM_001318829.2:c.4370C>T NP_001305758.1:p.Thr1457Met
NM_001318831.1:c.3983C>T NP_001305760.1:p.Thr1328Met
NM_001318831.2:c.3983C>T NP_001305760.1:p.Thr1328Met
NM_001318832.1:c.4547C>T NP_001305761.1:p.Thr1516Met
NM_001318832.2:c.4547C>T NP_001305761.1:p.Thr1516Met
NM_001363528.1:c.4517C>T NP_001350457.1:p.Thr1506Met
NM_001363528.2:c.4517C>T NP_001350457.1:p.Thr1506Met
NM_001370404.1:c.4583C>T NP_001357333.1:p.Thr1528Met
NM_001370405.1:c.4586C>T NP_001357334.1:p.Thr1529Met
NM_021055.2:c.4586C>T NP_066399.2:p.Thr1529Met
NM_021055.3:c.4586C>T NP_066399.2:p.Thr1529Met
ENST00000219476.7:c.4715C>T ENSP00000219476.3:p.Thr1572Met
ENST00000350773.8:c.4646C>T ENSP00000344383.4:p.Thr1549Met
ENST00000350773.9:c.4646C>T ENSP00000344383.4:p.Thr1549Met
ENST00000382538.10:c.4370C>T ENSP00000371978.6:p.Thr1457Met
ENST00000401874.6:c.4514C>T ENSP00000384468.2:p.Thr1505Met
ENST00000401874.7:c.4514C>T ENSP00000384468.2:p.Thr1505Met
ENST00000439117.6:c.*3882C>T ENSP00000406980.2:n.*3882C>T
ENST00000439673.6:c.4406C>T ENSP00000399232.2:p.Thr1469Met
ENST00000497886.5:n.2473C>T
ENST00000568454.5:c.4547C>T ENSP00000454487.1:p.Thr1516Met
ENST00000568454.6:c.4547C>T ENSP00000454487.1:p.Thr1516Met
ENST00000568566.6:c.*3064C>T ENSP00000455997.2:n.*3064C>T
ENST00000569110.1:c.897C>T
ENST00000569110.2:c.938C>T
ENST00000569930.1:n.1830C>T
ENST00000569930.2:n.2597C>T
ENST00000642206.2:c.4562C>T ENSP00000495146.2:p.Thr1521Met
ENST00000642365.1:c.3369C>T
ENST00000642365.2:c.4712C>T ENSP00000495459.2:p.Thr1571Met
ENST00000642561.1:c.4586C>T ENSP00000495099.1:p.Thr1529Met
ENST00000642728.1:n.897C>T
ENST00000642791.1:n.312C>T
ENST00000642797.1:c.4517C>T ENSP00000493846.1:p.Thr1506Met
ENST00000642936.1:c.4583C>T ENSP00000494514.1:p.Thr1528Met
ENST00000643088.1:c.4508C>T ENSP00000494747.1:p.Thr1503Met
ENST00000643177.1:n.729C>T
ENST00000643426.1:n.2363C>T
ENST00000643946.1:c.4640C>T ENSP00000495927.1:p.Thr1547Met
ENST00000644043.1:c.4586C>T ENSP00000496262.1:p.Thr1529Met
ENST00000644278.1:n.197C>T
ENST00000644329.1:c.4514C>T ENSP00000496611.1:p.Thr1505Met
ENST00000644335.1:c.4511C>T ENSP00000496317.1:p.Thr1504Met
ENST00000644399.1:c.4636C>T
ENST00000644417.2:c.*5228C>T ENSP00000493912.2:n.*5228C>T
ENST00000645024.1:n.2799C>T
ENST00000646388.1:c.4709C>T ENSP00000495921.1:p.Thr1570Met
ENST00000646464.2:c.*7464C>T ENSP00000496610.2:n.*7464C>T
ENST00000646634.1:n.3530C>T
ENST00000646674.1:n.1967C>T
ENST00000647042.1:n.1938C>T
ENST00000647180.1:n.1828C>T
XM_005255529.3:c.4586C>T XP_005255586.2:p.Thr1529Met
XM_005255531.3:c.4517C>T XP_005255588.2:p.Thr1506Met
XM_005255531.4:c.4517C>T XP_005255588.2:p.Thr1506Met
XM_011522636.1:c.4769C>T XP_011520938.1:p.Thr1590Met
XM_011522636.2:c.4769C>T XP_011520938.1:p.Thr1590Met
XM_011522637.1:c.4766C>T XP_011520939.1:p.Thr1589Met
XM_011522637.2:c.4766C>T XP_011520939.1:p.Thr1589Met
XM_011522638.1:c.4658C>T XP_011520940.1:p.Thr1553Met
XM_011522638.2:c.4931C>T XP_011520940.2:p.Thr1644Met
XM_011522639.1:c.4640C>T XP_011520941.1:p.Thr1547Met
XM_011522639.2:c.4640C>T XP_011520941.1:p.Thr1547Met
XM_011522640.1:c.4637C>T XP_011520942.1:p.Thr1546Met
XM_011522640.2:c.4637C>T XP_011520942.1:p.Thr1546Met
XM_011522641.1:c.4406C>T XP_011520943.1:p.Thr1469Met
XM_017023615.1:c.4712C>T XP_016879104.1:p.Thr1571Met
XM_017023616.1:c.4583C>T XP_016879105.1:p.Thr1528Met
XM_017023617.1:c.4679C>T XP_016879106.1:p.Thr1560Met
XM_017023618.1:c.3425C>T XP_016879107.1:p.Thr1142Met
XM_024450413.1:c.4514C>T XP_024306181.1:p.Thr1505Met