Canonical Allele Identifier: CA2057556
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201706919T>C , CM000664.2:g.201706919T>C GRCh38
NC_000002.11:g.202571642T>C , CM000664.1:g.202571642T>C GRCh37
NC_000002.10:g.202279887T>C NCBI36
NG_008775.1:g.79254A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4507A>G MANE Select ENSP00000264276.6:p.Ile1503Val
ENST00000439495.6:c.*687A>G ENSP00000403832.2:n.*687A>G
ENST00000679409.1:c.*977A>G ENSP00000506531.1:n.*977A>G
ENST00000679416.1:n.6011A>G
ENST00000679427.1:n.1943A>G
ENST00000679435.1:c.4507A>G ENSP00000505218.1:p.Ile1503Val
ENST00000679516.1:c.4507A>G ENSP00000505187.1:p.Ile1503Val
ENST00000679618.1:c.*1595A>G ENSP00000506274.1:n.*1595A>G
ENST00000679630.1:n.6356A>G
ENST00000679635.1:n.2534A>G
ENST00000679686.1:n.4621A>G
ENST00000679701.1:n.7499A>G
ENST00000679916.1:c.*855A>G ENSP00000506172.1:n.*855A>G
ENST00000680000.1:c.4507A>G ENSP00000506173.1:p.Ile1503Val
ENST00000680135.1:c.*2468A>G ENSP00000506211.1:n.*2468A>G
ENST00000680149.1:c.4504A>G ENSP00000506497.1:p.Ile1502Val
ENST00000680163.1:c.4507A>G ENSP00000505092.1:p.Ile1503Val
ENST00000680174.1:n.5198A>G
ENST00000680236.1:c.*1568A>G ENSP00000506212.1:n.*1568A>G
ENST00000680441.1:n.3065A>G
ENST00000680497.1:c.4609A>G ENSP00000505954.1:p.Ile1537Val
ENST00000680508.1:c.4504A>G ENSP00000505749.1:p.Ile1502Val
ENST00000680569.1:c.*2215A>G ENSP00000505522.1:n.*2215A>G
ENST00000680634.1:n.1015A>G
ENST00000680722.1:n.2307A>G
ENST00000680726.1:c.4507A>G ENSP00000505505.1:p.Ile1503Val
ENST00000680759.1:c.4339A>G ENSP00000505848.1:p.Ile1447Val
ENST00000680814.1:c.4507A>G ENSP00000505710.1:p.Ile1503Val
ENST00000680828.1:c.*2201A>G ENSP00000505249.1:n.*2201A>G
ENST00000680861.1:c.4507A>G ENSP00000505043.1:p.Ile1503Val
ENST00000680927.1:c.*687A>G ENSP00000505473.1:n.*687A>G
ENST00000680939.1:n.4849A>G
ENST00000681250.1:c.*1224A>G ENSP00000505684.1:n.*1224A>G
ENST00000681256.1:c.*2522A>G ENSP00000505446.1:n.*2522A>G
ENST00000681279.1:n.5373A>G
ENST00000681307.1:n.5620A>G
ENST00000681461.1:n.5275A>G
ENST00000681495.1:c.2044A>G ENSP00000506085.1:p.Ile682Val
ENST00000681558.1:c.2185A>G ENSP00000505568.1:p.Ile729Val
ENST00000681619.1:c.4504A>G ENSP00000505071.1:p.Ile1502Val
ENST00000681663.1:n.1413A>G
ENST00000681692.1:n.2467A>G
ENST00000681716.1:c.*2361A>G ENSP00000505078.1:n.*2361A>G
ENST00000681768.1:c.*2171A>G ENSP00000506311.1:n.*2171A>G
ENST00000681808.1:c.4403+950A>G ENSP00000505219.1:n.4403+950A>G
ENST00000264276.10:c.4507A>G ENSP00000264276.6:p.Ile1503Val
ENST00000439495.5:c.2611A>G
NM_020919.3:c.4507A>G NP_065970.2:p.Ile1503Val
XM_005246709.2:c.4504A>G XP_005246766.1:p.Ile1502Val
XM_006712654.1:c.4507A>G XP_006712717.1:p.Ile1503Val
XM_006712655.2:c.2443A>G XP_006712718.1:p.Ile815Val
XM_011511530.1:c.4168A>G XP_011509832.1:p.Ile1390Val
XR_922974.1:n.4785A>G
XM_006712654.3:c.4507A>G XP_006712717.1:p.Ile1503Val
XM_006712655.3:c.2443A>G XP_006712718.1:p.Ile815Val
XM_017004569.2:c.4504A>G XP_016860058.1:p.Ile1502Val
XM_017004572.2:c.2125A>G XP_016860061.1:p.Ile709Val
XM_024453024.1:c.4168A>G XP_024308792.1:p.Ile1390Val
XM_024453025.1:c.2440A>G XP_024308793.1:p.Ile814Val
XR_001738864.2:n.4642A>G
XR_001738865.2:n.4639A>G
XR_001738866.2:n.4785A>G
XR_001738867.2:n.4782A>G
XR_002959320.1:n.3698A>G
NM_020919.4:c.4507A>G MANE Select NP_065970.2:p.Ile1503Val