Canonical Allele Identifier: CA350322451
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201707876C>T , CM000664.2:g.201707876C>T GRCh38
NC_000002.11:g.202572599C>T , CM000664.1:g.202572599C>T GRCh37
NC_000002.10:g.202280844C>T NCBI36
NG_008775.1:g.78297G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4396G>A MANE Select ENSP00000264276.6:p.Glu1466Lys
ENST00000439495.6:c.*576G>A ENSP00000403832.2:n.*576G>A
ENST00000679409.1:c.*866G>A ENSP00000506531.1:n.*866G>A
ENST00000679416.1:n.5900G>A
ENST00000679427.1:n.1832G>A
ENST00000679435.1:c.4396G>A ENSP00000505218.1:p.Glu1466Lys
ENST00000679516.1:c.4396G>A ENSP00000505187.1:p.Glu1466Lys
ENST00000679618.1:c.*1484G>A ENSP00000506274.1:n.*1484G>A
ENST00000679630.1:n.6245G>A
ENST00000679635.1:n.2423G>A
ENST00000679686.1:n.4510G>A
ENST00000679701.1:n.7388G>A
ENST00000679916.1:c.*744G>A ENSP00000506172.1:n.*744G>A
ENST00000680000.1:c.4396G>A ENSP00000506173.1:p.Glu1466Lys
ENST00000680135.1:c.*2357G>A ENSP00000506211.1:n.*2357G>A
ENST00000680149.1:c.4393G>A ENSP00000506497.1:p.Glu1465Lys
ENST00000680163.1:c.4396G>A ENSP00000505092.1:p.Glu1466Lys
ENST00000680174.1:n.5087G>A
ENST00000680236.1:c.*1457G>A ENSP00000506212.1:n.*1457G>A
ENST00000680441.1:n.2954G>A
ENST00000680497.1:c.4498G>A ENSP00000505954.1:p.Glu1500Lys
ENST00000680508.1:c.4393G>A ENSP00000505749.1:p.Glu1465Lys
ENST00000680569.1:c.*2104G>A ENSP00000505522.1:n.*2104G>A
ENST00000680634.1:n.904G>A
ENST00000680722.1:n.2196G>A
ENST00000680726.1:c.4396G>A ENSP00000505505.1:p.Glu1466Lys
ENST00000680759.1:c.4228G>A ENSP00000505848.1:p.Glu1410Lys
ENST00000680814.1:c.4396G>A ENSP00000505710.1:p.Glu1466Lys
ENST00000680828.1:c.*2090G>A ENSP00000505249.1:n.*2090G>A
ENST00000680861.1:c.4396G>A ENSP00000505043.1:p.Glu1466Lys
ENST00000680927.1:c.*576G>A ENSP00000505473.1:n.*576G>A
ENST00000680939.1:n.4738G>A
ENST00000681250.1:c.*1113G>A ENSP00000505684.1:n.*1113G>A
ENST00000681256.1:c.*2411G>A ENSP00000505446.1:n.*2411G>A
ENST00000681279.1:n.5262G>A
ENST00000681307.1:n.5509G>A
ENST00000681461.1:n.5164G>A
ENST00000681495.1:c.1933G>A ENSP00000506085.1:p.Glu645Lys
ENST00000681558.1:c.2074G>A ENSP00000505568.1:p.Glu692Lys
ENST00000681619.1:c.4393G>A ENSP00000505071.1:p.Glu1465Lys
ENST00000681663.1:n.1302G>A
ENST00000681692.1:n.2356G>A
ENST00000681716.1:c.*2250G>A ENSP00000505078.1:n.*2250G>A
ENST00000681768.1:c.*2060G>A ENSP00000506311.1:n.*2060G>A
ENST00000681808.1:c.4396G>A ENSP00000505219.1:p.Glu1466Lys
ENST00000264276.10:c.4396G>A ENSP00000264276.6:p.Glu1466Lys
ENST00000439495.5:c.2500G>A
NM_020919.3:c.4396G>A NP_065970.2:p.Glu1466Lys
XM_005246709.2:c.4393G>A XP_005246766.1:p.Glu1465Lys
XM_006712654.1:c.4396G>A XP_006712717.1:p.Glu1466Lys
XM_006712655.2:c.2332G>A XP_006712718.1:p.Glu778Lys
XM_011511530.1:c.4057G>A XP_011509832.1:p.Glu1353Lys
XR_922974.1:n.4674G>A
XM_006712654.3:c.4396G>A XP_006712717.1:p.Glu1466Lys
XM_006712655.3:c.2332G>A XP_006712718.1:p.Glu778Lys
XM_017004569.2:c.4393G>A XP_016860058.1:p.Glu1465Lys
XM_017004572.2:c.2014G>A XP_016860061.1:p.Glu672Lys
XM_024453024.1:c.4057G>A XP_024308792.1:p.Glu1353Lys
XM_024453025.1:c.2329G>A XP_024308793.1:p.Glu777Lys
XR_001738864.2:n.4531G>A
XR_001738865.2:n.4528G>A
XR_001738866.2:n.4674G>A
XR_001738867.2:n.4671G>A
XR_002959320.1:n.3587G>A
NM_020919.4:c.4396G>A MANE Select NP_065970.2:p.Glu1466Lys