Canonical Allele Identifier: CA276778125
Community Standard Title: NM_000548.5(TSC2):c.1391A>G (p.Lys464Arg)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2063001A>G , CM000678.2:g.2063001A>G GRCh38
NC_000016.9:g.2113002A>G , CM000678.1:g.2113002A>G GRCh37
NC_000016.8:g.2053003A>G NCBI36
NG_005895.1:g.18696A>G , LRG_487:g.18696A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.1391A>G MANE Select NP_000539.2:p.Lys464Arg
ENST00000219476.9:c.1391A>G MANE Select ENSP00000219476.3:p.Lys464Arg
NM_000548.3:c.1391A>G , LRG_487t1:c.1391A>G NP_000539.2:p.Lys464Arg
NM_000548.4:c.1391A>G NP_000539.2:p.Lys464Arg
NM_001077183.1:c.1391A>G NP_001070651.1:p.Lys464Arg
NM_001077183.2:c.1391A>G NP_001070651.1:p.Lys464Arg
NM_001077183.3:c.1391A>G NP_001070651.1:p.Lys464Arg
NM_001114382.1:c.1391A>G NP_001107854.1:p.Lys464Arg
NM_001114382.2:c.1391A>G NP_001107854.1:p.Lys464Arg
NM_001114382.3:c.1391A>G NP_001107854.1:p.Lys464Arg
NM_001318827.1:c.1280A>G NP_001305756.1:p.Lys427Arg
NM_001318827.2:c.1280A>G NP_001305756.1:p.Lys427Arg
NM_001318829.1:c.1244A>G NP_001305758.1:p.Lys415Arg
NM_001318829.2:c.1244A>G NP_001305758.1:p.Lys415Arg
NM_001318831.1:c.791A>G NP_001305760.1:p.Lys264Arg
NM_001318831.2:c.791A>G NP_001305760.1:p.Lys264Arg
NM_001318832.1:c.1424A>G NP_001305761.1:p.Lys475Arg
NM_001318832.2:c.1424A>G NP_001305761.1:p.Lys475Arg
NM_001363528.1:c.1391A>G NP_001350457.1:p.Lys464Arg
NM_001363528.2:c.1391A>G NP_001350457.1:p.Lys464Arg
NM_001370404.1:c.1391A>G NP_001357333.1:p.Lys464Arg
NM_001370405.1:c.1391A>G NP_001357334.1:p.Lys464Arg
NM_021055.2:c.1391A>G NP_066399.2:p.Lys464Arg
NM_021055.3:c.1391A>G NP_066399.2:p.Lys464Arg
ENST00000219476.7:c.1391A>G ENSP00000219476.3:p.Lys464Arg
ENST00000350773.8:c.1391A>G ENSP00000344383.4:p.Lys464Arg
ENST00000350773.9:c.1391A>G ENSP00000344383.4:p.Lys464Arg
ENST00000382538.10:c.1244A>G ENSP00000371978.6:p.Lys415Arg
ENST00000401874.6:c.1391A>G ENSP00000384468.2:p.Lys464Arg
ENST00000401874.7:c.1391A>G ENSP00000384468.2:p.Lys464Arg
ENST00000439117.6:c.*690A>G ENSP00000406980.2:n.*690A>G
ENST00000439673.6:c.1280A>G ENSP00000399232.2:p.Lys427Arg
ENST00000463601.1:n.554A>G
ENST00000463601.2:n.301A>G
ENST00000467949.1:c.545A>G ENSP00000454997.1:p.Lys182Arg
ENST00000467949.2:n.561A>G
ENST00000490108.1:n.164A>G
ENST00000568454.5:c.1424A>G ENSP00000454487.1:p.Lys475Arg
ENST00000568454.6:c.1424A>G ENSP00000454487.1:p.Lys475Arg
ENST00000568566.5:c.83+401A>G ENSP00000455997.1:n.83+401A>G
ENST00000568566.6:c.1361+401A>G ENSP00000455997.2:n.1361+401A>G
ENST00000642206.2:c.1436A>G ENSP00000495146.2:p.Lys479Arg
ENST00000642365.1:c.48A>G
ENST00000642365.2:c.1391A>G ENSP00000495459.2:p.Lys464Arg
ENST00000642561.1:c.1391A>G ENSP00000495099.1:p.Lys464Arg
ENST00000642797.1:c.1391A>G ENSP00000493846.1:p.Lys464Arg
ENST00000642812.1:n.1436A>G
ENST00000642936.1:c.1391A>G ENSP00000494514.1:p.Lys464Arg
ENST00000643088.1:c.1391A>G ENSP00000494747.1:p.Lys464Arg
ENST00000643149.1:n.3401A>G
ENST00000643298.1:c.*893A>G ENSP00000494393.1:n.*893A>G
ENST00000643745.1:c.*323A>G ENSP00000495948.1:n.*323A>G
ENST00000643946.1:c.1391A>G ENSP00000495927.1:p.Lys464Arg
ENST00000644043.1:c.1391A>G ENSP00000496262.1:p.Lys464Arg
ENST00000644135.1:c.1391A>G ENSP00000495644.1:p.Lys464Arg
ENST00000644222.1:n.1478A>G
ENST00000644329.1:c.1391A>G ENSP00000496611.1:p.Lys464Arg
ENST00000644335.1:c.1391A>G ENSP00000496317.1:p.Lys464Arg
ENST00000644399.1:c.1384A>G
ENST00000644417.2:c.*828A>G ENSP00000493912.2:n.*828A>G
ENST00000644665.1:n.2565A>G
ENST00000644847.1:n.383A>G
ENST00000645591.1:n.2449A>G
ENST00000646388.1:c.1391A>G ENSP00000495921.1:p.Lys464Arg
ENST00000646464.2:c.*996A>G ENSP00000496610.2:n.*996A>G
ENST00000646634.1:n.404A>G
ENST00000647234.1:n.3149A>G
ENST00000647242.1:n.2027A>G
XM_005255529.3:c.1391A>G XP_005255586.2:p.Lys464Arg
XM_005255531.3:c.1391A>G XP_005255588.2:p.Lys464Arg
XM_005255531.4:c.1391A>G XP_005255588.2:p.Lys464Arg
XM_011522636.1:c.1391A>G XP_011520938.1:p.Lys464Arg
XM_011522636.2:c.1391A>G XP_011520938.1:p.Lys464Arg
XM_011522637.1:c.1391A>G XP_011520939.1:p.Lys464Arg
XM_011522637.2:c.1391A>G XP_011520939.1:p.Lys464Arg
XM_011522638.1:c.1280A>G XP_011520940.1:p.Lys427Arg
XM_011522638.2:c.1553A>G XP_011520940.2:p.Lys518Arg
XM_011522639.1:c.1391A>G XP_011520941.1:p.Lys464Arg
XM_011522639.2:c.1391A>G XP_011520941.1:p.Lys464Arg
XM_011522640.1:c.1391A>G XP_011520942.1:p.Lys464Arg
XM_011522640.2:c.1391A>G XP_011520942.1:p.Lys464Arg
XM_011522641.1:c.1280A>G XP_011520943.1:p.Lys427Arg
XM_017023615.1:c.1391A>G XP_016879104.1:p.Lys464Arg
XM_017023616.1:c.1391A>G XP_016879105.1:p.Lys464Arg
XM_017023617.1:c.1553A>G XP_016879106.1:p.Lys518Arg
XM_017023618.1:c.47A>G XP_016879107.1:p.Lys16Arg
XM_024450413.1:c.1391A>G XP_024306181.1:p.Lys464Arg