Canonical Allele Identifier: CA1321156496
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704131G= , CM000664.2:g.201704131G= GRCh38
NC_000002.11:g.202568854G= , CM000664.1:g.202568854G= GRCh37
NC_000002.10:g.202277099G= NCBI36
NG_008775.1:g.82042C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4926C= MANE Select ENSP00000264276.6:p.Thr1642=
ENST00000439495.6:c.*1106C= ENSP00000403832.2:n.*1106C=
ENST00000679409.1:c.*1631C= ENSP00000506531.1:n.*1631C=
ENST00000679416.1:n.6430C=
ENST00000679427.1:n.2597C=
ENST00000679435.1:c.4926C= ENSP00000505218.1:p.Thr1642=
ENST00000679516.1:c.4926C= ENSP00000505187.1:p.Thr1642=
ENST00000679618.1:c.*2014C= ENSP00000506274.1:n.*2014C=
ENST00000679630.1:n.6775C=
ENST00000679635.1:n.3188C=
ENST00000679686.1:n.5040C=
ENST00000679701.1:n.7918C=
ENST00000679916.1:c.*1274C= ENSP00000506172.1:n.*1274C=
ENST00000680000.1:c.4926C= ENSP00000506173.1:p.Thr1642=
ENST00000680135.1:c.*2887C= ENSP00000506211.1:n.*2887C=
ENST00000680149.1:c.*208C= ENSP00000506497.1:n.*208C=
ENST00000680163.1:c.4926C= ENSP00000505092.1:p.Thr1642=
ENST00000680174.1:n.5617C=
ENST00000680236.1:c.*1987C= ENSP00000506212.1:n.*1987C=
ENST00000680404.1:n.441C=
ENST00000680441.1:n.3484C=
ENST00000680497.1:c.5028C= ENSP00000505954.1:p.Thr1676=
ENST00000680508.1:c.*82C= ENSP00000505749.1:n.*82C=
ENST00000680569.1:c.*2869C= ENSP00000505522.1:n.*2869C=
ENST00000680634.1:n.1434C=
ENST00000680722.1:n.2726C=
ENST00000680726.1:c.*208C= ENSP00000505505.1:n.*208C=
ENST00000680759.1:c.4758C= ENSP00000505848.1:p.Thr1586=
ENST00000680814.1:c.4838+323C= ENSP00000505710.1:n.4838+323C=
ENST00000680828.1:c.*2620C= ENSP00000505249.1:n.*2620C=
ENST00000680861.1:c.4926C= ENSP00000505043.1:p.Thr1642=
ENST00000680927.1:c.*1106C= ENSP00000505473.1:n.*1106C=
ENST00000680939.1:n.6867C=
ENST00000681250.1:c.*1643C= ENSP00000505684.1:n.*1643C=
ENST00000681256.1:c.*2941C= ENSP00000505446.1:n.*2941C=
ENST00000681279.1:n.5792C=
ENST00000681307.1:n.6039C=
ENST00000681461.1:n.5694C=
ENST00000681495.1:c.2463C= ENSP00000506085.1:p.Thr821=
ENST00000681558.1:c.2604C= ENSP00000505568.1:p.Thr868=
ENST00000681619.1:c.4923C= ENSP00000505071.1:p.Thr1641=
ENST00000681663.1:n.1832C=
ENST00000681692.1:n.2886C=
ENST00000681716.1:c.*2780C= ENSP00000505078.1:n.*2780C=
ENST00000681768.1:c.*2590C= ENSP00000506311.1:n.*2590C=
ENST00000681808.1:c.4749C= ENSP00000505219.1:p.Thr1583=
ENST00000264276.10:c.4926C= ENSP00000264276.6:p.Thr1642=
ENST00000439495.5:c.3030C=
NM_020919.3:c.4926C= NP_065970.2:p.Thr1642=
XM_005246709.2:c.4923C= XP_005246766.1:p.Thr1641=
XM_006712654.1:c.4926C= XP_006712717.1:p.Thr1642=
XM_006712655.2:c.2862C= XP_006712718.1:p.Thr954=
XM_011511530.1:c.4587C= XP_011509832.1:p.Thr1529=
XR_922974.1:n.5204C=
XM_006712654.3:c.4926C= XP_006712717.1:p.Thr1642=
XM_006712655.3:c.2862C= XP_006712718.1:p.Thr954=
XM_017004569.2:c.4923C= XP_016860058.1:p.Thr1641=
XM_017004572.2:c.2544C= XP_016860061.1:p.Thr848=
XM_024453024.1:c.4587C= XP_024308792.1:p.Thr1529=
XM_024453025.1:c.2859C= XP_024308793.1:p.Thr953=
XR_001738864.2:n.5041C=
XR_001738865.2:n.5038C=
XR_001738866.2:n.5204C=
XR_001738867.2:n.5201C=
XR_002959320.1:n.4097C=
NM_020919.4:c.4926C= MANE Select NP_065970.2:p.Thr1642=