Canonical Allele Identifier: CA1321180834
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201726854G= , CM000664.2:g.201726854G= GRCh38
NC_000002.11:g.202591577G= , CM000664.1:g.202591577G= GRCh37
NC_000002.10:g.202299822G= NCBI36
NG_008775.1:g.59319C=

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.2992C= MANE Select NP_065970.2:p.Arg998=
ENST00000264276.11:c.2992C= MANE Select ENSP00000264276.6:p.Arg998=
NM_020919.3:c.2992C= NP_065970.2:p.Arg998=
ENST00000264276.10:c.2992C= ENSP00000264276.6:p.Arg998=
ENST00000439495.5:c.953C=
ENST00000439495.6:c.670C= ENSP00000403832.2:p.Arg224=
ENST00000482891.5:n.3132C=
ENST00000482891.6:n.3760C=
ENST00000494017.5:n.519C=
ENST00000494017.6:n.724C=
ENST00000679409.1:c.670C= ENSP00000506531.1:p.Arg224=
ENST00000679416.1:n.4496C=
ENST00000679435.1:c.2992C= ENSP00000505218.1:p.Arg998=
ENST00000679516.1:c.2992C= ENSP00000505187.1:p.Arg998=
ENST00000679618.1:c.*80C= ENSP00000506274.1:n.*80C=
ENST00000679630.1:n.4841C=
ENST00000679686.1:n.3106C=
ENST00000679701.1:n.4841C=
ENST00000679916.1:c.2992C= ENSP00000506172.1:p.Arg998=
ENST00000680000.1:c.2992C= ENSP00000506173.1:p.Arg998=
ENST00000680135.1:c.*956C= ENSP00000506211.1:n.*956C=
ENST00000680149.1:c.2992C= ENSP00000506497.1:p.Arg998=
ENST00000680163.1:c.2992C= ENSP00000505092.1:p.Arg998=
ENST00000680174.1:n.3683C=
ENST00000680236.1:c.*53C= ENSP00000506212.1:n.*53C=
ENST00000680497.1:c.3094C= ENSP00000505954.1:p.Arg1032=
ENST00000680508.1:c.2992C= ENSP00000505749.1:p.Arg998=
ENST00000680569.1:c.*703C= ENSP00000505522.1:n.*703C=
ENST00000680630.1:n.3424C=
ENST00000680634.1:n.21-6365C=
ENST00000680722.1:n.792C=
ENST00000680723.1:n.2632C=
ENST00000680726.1:c.2992C= ENSP00000505505.1:p.Arg998=
ENST00000680737.1:n.3263C=
ENST00000680759.1:c.2992C= ENSP00000505848.1:p.Arg998=
ENST00000680814.1:c.2992C= ENSP00000505710.1:p.Arg998=
ENST00000680828.1:c.*564C= ENSP00000505249.1:n.*564C=
ENST00000680861.1:c.2992C= ENSP00000505043.1:p.Arg998=
ENST00000680927.1:c.2992C= ENSP00000505473.1:p.Arg998=
ENST00000680939.1:n.3334C=
ENST00000681152.1:c.2992C= ENSP00000505388.1:p.Arg998=
ENST00000681250.1:c.1472-1400C= ENSP00000505684.1:n.1472-1400C=
ENST00000681256.1:c.*1010C= ENSP00000505446.1:n.*1010C=
ENST00000681279.1:n.3760C=
ENST00000681303.1:c.2992C= ENSP00000505576.1:p.Arg998=
ENST00000681307.1:n.4105C=
ENST00000681461.1:n.3760C=
ENST00000681495.1:c.532C= ENSP00000506085.1:p.Arg178=
ENST00000681558.1:c.670C= ENSP00000505568.1:p.Arg224=
ENST00000681619.1:c.2992C= ENSP00000505071.1:p.Arg998=
ENST00000681716.1:c.*703C= ENSP00000505078.1:n.*703C=
ENST00000681758.1:n.3334C=
ENST00000681768.1:c.*656C= ENSP00000506311.1:n.*656C=
ENST00000681808.1:c.2992C= ENSP00000505219.1:p.Arg998=
XM_005246709.2:c.2992C= XP_005246766.1:p.Arg998=
XM_006712654.1:c.2992C= XP_006712717.1:p.Arg998=
XM_006712654.3:c.2992C= XP_006712717.1:p.Arg998=
XM_006712655.2:c.928C= XP_006712718.1:p.Arg310=
XM_006712655.3:c.928C= XP_006712718.1:p.Arg310=
XM_011511530.1:c.2653C= XP_011509832.1:p.Arg885=
XM_011511531.1:c.2992C= XP_011509833.1:p.Arg998=
XM_017004569.2:c.2992C= XP_016860058.1:p.Arg998=
XM_017004570.2:c.2992C= XP_016860059.1:p.Arg998=
XM_017004572.2:c.610C= XP_016860061.1:p.Arg204=
XM_024453024.1:c.2653C= XP_024308792.1:p.Arg885=
XM_024453025.1:c.928C= XP_024308793.1:p.Arg310=
XR_001738864.2:n.3127C=
XR_001738865.2:n.3127C=
XR_001738866.2:n.3127C=
XR_001738867.2:n.3127C=
XR_002959320.1:n.2183C=
XR_922974.1:n.3127C=