Canonical Allele Identifier: CA394301736
Community Standard Title: NM_000548.5(TSC2):c.4366C>G (p.Leu1456Val)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084588C>G , CM000678.2:g.2084588C>G GRCh38
NC_000016.9:g.2134589C>G , CM000678.1:g.2134589C>G GRCh37
NC_000016.8:g.2074590C>G NCBI36
NG_005895.1:g.40283C>G , LRG_487:g.40283C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4366C>G MANE Select NP_000539.2:p.Leu1456Val
ENST00000219476.9:c.4366C>G MANE Select ENSP00000219476.3:p.Leu1456Val
NM_000548.3:c.4366C>G , LRG_487t1:c.4366C>G NP_000539.2:p.Leu1456Val
NM_000548.4:c.4366C>G NP_000539.2:p.Leu1456Val
NM_001077183.1:c.4165C>G NP_001070651.1:p.Leu1389Val
NM_001077183.2:c.4165C>G NP_001070651.1:p.Leu1389Val
NM_001077183.3:c.4165C>G NP_001070651.1:p.Leu1389Val
NM_001114382.1:c.4297C>G NP_001107854.1:p.Leu1433Val
NM_001114382.2:c.4297C>G NP_001107854.1:p.Leu1433Val
NM_001114382.3:c.4297C>G NP_001107854.1:p.Leu1433Val
NM_001318827.1:c.4057C>G NP_001305756.1:p.Leu1353Val
NM_001318827.2:c.4057C>G NP_001305756.1:p.Leu1353Val
NM_001318829.1:c.4021C>G NP_001305758.1:p.Leu1341Val
NM_001318829.2:c.4021C>G NP_001305758.1:p.Leu1341Val
NM_001318831.1:c.3634C>G NP_001305760.1:p.Leu1212Val
NM_001318831.2:c.3634C>G NP_001305760.1:p.Leu1212Val
NM_001318832.1:c.4198C>G NP_001305761.1:p.Leu1400Val
NM_001318832.2:c.4198C>G NP_001305761.1:p.Leu1400Val
NM_001363528.1:c.4168C>G NP_001350457.1:p.Leu1390Val
NM_001363528.2:c.4168C>G NP_001350457.1:p.Leu1390Val
NM_001370404.1:c.4234C>G NP_001357333.1:p.Leu1412Val
NM_001370405.1:c.4237C>G NP_001357334.1:p.Leu1413Val
NM_021055.2:c.4237C>G NP_066399.2:p.Leu1413Val
NM_021055.3:c.4237C>G NP_066399.2:p.Leu1413Val
ENST00000219476.7:c.4366C>G ENSP00000219476.3:p.Leu1456Val
ENST00000350773.8:c.4297C>G ENSP00000344383.4:p.Leu1433Val
ENST00000350773.9:c.4297C>G ENSP00000344383.4:p.Leu1433Val
ENST00000382538.10:c.4021C>G ENSP00000371978.6:p.Leu1341Val
ENST00000401874.6:c.4165C>G ENSP00000384468.2:p.Leu1389Val
ENST00000401874.7:c.4165C>G ENSP00000384468.2:p.Leu1389Val
ENST00000439117.6:c.*3533C>G ENSP00000406980.2:n.*3533C>G
ENST00000439673.6:c.4057C>G ENSP00000399232.2:p.Leu1353Val
ENST00000497886.5:n.2124C>G
ENST00000568454.5:c.4198C>G ENSP00000454487.1:p.Leu1400Val
ENST00000568454.6:c.4198C>G ENSP00000454487.1:p.Leu1400Val
ENST00000568566.6:c.*2715C>G ENSP00000455997.2:n.*2715C>G
ENST00000569110.1:c.548C>G
ENST00000569110.2:c.602C>G
ENST00000569930.1:n.1481C>G
ENST00000569930.2:n.2248C>G
ENST00000642206.2:c.4213C>G ENSP00000495146.2:p.Leu1405Val
ENST00000642365.1:c.3020C>G
ENST00000642365.2:c.4363C>G ENSP00000495459.2:p.Leu1455Val
ENST00000642561.1:c.4237C>G ENSP00000495099.1:p.Leu1413Val
ENST00000642728.1:n.548C>G
ENST00000642797.1:c.4168C>G ENSP00000493846.1:p.Leu1390Val
ENST00000642936.1:c.4234C>G ENSP00000494514.1:p.Leu1412Val
ENST00000643088.1:c.4165C>G ENSP00000494747.1:p.Leu1389Val
ENST00000643177.1:n.380C>G
ENST00000643426.1:n.2014C>G
ENST00000643946.1:c.4297C>G ENSP00000495927.1:p.Leu1433Val
ENST00000644043.1:c.4237C>G ENSP00000496262.1:p.Leu1413Val
ENST00000644329.1:c.4165C>G ENSP00000496611.1:p.Leu1389Val
ENST00000644335.1:c.4168C>G ENSP00000496317.1:p.Leu1390Val
ENST00000644399.1:c.4287C>G
ENST00000644417.2:c.*4746C>G ENSP00000493912.2:n.*4746C>G
ENST00000645024.1:n.2450C>G
ENST00000646388.1:c.4366C>G ENSP00000495921.1:p.Leu1456Val
ENST00000646464.2:c.*7115C>G ENSP00000496610.2:n.*7115C>G
ENST00000646634.1:n.3181C>G
ENST00000646674.1:n.1618C>G
ENST00000647042.1:n.1589C>G
ENST00000647180.1:n.1479C>G
XM_005255529.3:c.4237C>G XP_005255586.2:p.Leu1413Val
XM_005255531.3:c.4168C>G XP_005255588.2:p.Leu1390Val
XM_005255531.4:c.4168C>G XP_005255588.2:p.Leu1390Val
XM_011522636.1:c.4420C>G XP_011520938.1:p.Leu1474Val
XM_011522636.2:c.4420C>G XP_011520938.1:p.Leu1474Val
XM_011522637.1:c.4417C>G XP_011520939.1:p.Leu1473Val
XM_011522637.2:c.4417C>G XP_011520939.1:p.Leu1473Val
XM_011522638.1:c.4309C>G XP_011520940.1:p.Leu1437Val
XM_011522638.2:c.4582C>G XP_011520940.2:p.Leu1528Val
XM_011522639.1:c.4291C>G XP_011520941.1:p.Leu1431Val
XM_011522639.2:c.4291C>G XP_011520941.1:p.Leu1431Val
XM_011522640.1:c.4288C>G XP_011520942.1:p.Leu1430Val
XM_011522640.2:c.4288C>G XP_011520942.1:p.Leu1430Val
XM_011522641.1:c.4057C>G XP_011520943.1:p.Leu1353Val
XM_017023615.1:c.4363C>G XP_016879104.1:p.Leu1455Val
XM_017023616.1:c.4234C>G XP_016879105.1:p.Leu1412Val
XM_017023617.1:c.4330C>G XP_016879106.1:p.Leu1444Val
XM_017023618.1:c.3076C>G XP_016879107.1:p.Leu1026Val
XM_024450413.1:c.4165C>G XP_024306181.1:p.Leu1389Val