Canonical Allele Identifier: CA350320212
Gene: ALS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704138A>T , CM000664.2:g.201704138A>T GRCh38
NC_000002.11:g.202568861A>T , CM000664.1:g.202568861A>T GRCh37
NC_000002.10:g.202277106A>T NCBI36
NG_008775.1:g.82035T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4919T>A MANE Select ENSP00000264276.6:p.Met1640Lys
ENST00000439495.6:c.*1099T>A ENSP00000403832.2:n.*1099T>A
ENST00000679409.1:c.*1624T>A ENSP00000506531.1:n.*1624T>A
ENST00000679416.1:n.6423T>A
ENST00000679427.1:n.2590T>A
ENST00000679435.1:c.4919T>A ENSP00000505218.1:p.Met1640Lys
ENST00000679516.1:c.4919T>A ENSP00000505187.1:p.Met1640Lys
ENST00000679618.1:c.*2007T>A ENSP00000506274.1:n.*2007T>A
ENST00000679630.1:n.6768T>A
ENST00000679635.1:n.3181T>A
ENST00000679686.1:n.5033T>A
ENST00000679701.1:n.7911T>A
ENST00000679916.1:c.*1267T>A ENSP00000506172.1:n.*1267T>A
ENST00000680000.1:c.4919T>A ENSP00000506173.1:p.Met1640Lys
ENST00000680135.1:c.*2880T>A ENSP00000506211.1:n.*2880T>A
ENST00000680149.1:c.*201T>A ENSP00000506497.1:n.*201T>A
ENST00000680163.1:c.4919T>A ENSP00000505092.1:p.Met1640Lys
ENST00000680174.1:n.5610T>A
ENST00000680236.1:c.*1980T>A ENSP00000506212.1:n.*1980T>A
ENST00000680404.1:n.434T>A
ENST00000680441.1:n.3477T>A
ENST00000680497.1:c.5021T>A ENSP00000505954.1:p.Met1674Lys
ENST00000680508.1:c.*75T>A ENSP00000505749.1:n.*75T>A
ENST00000680569.1:c.*2862T>A ENSP00000505522.1:n.*2862T>A
ENST00000680634.1:n.1427T>A
ENST00000680722.1:n.2719T>A
ENST00000680726.1:c.*201T>A ENSP00000505505.1:n.*201T>A
ENST00000680759.1:c.4751T>A ENSP00000505848.1:p.Met1584Lys
ENST00000680814.1:c.4838+316T>A ENSP00000505710.1:n.4838+316T>A
ENST00000680828.1:c.*2613T>A ENSP00000505249.1:n.*2613T>A
ENST00000680861.1:c.4919T>A ENSP00000505043.1:p.Met1640Lys
ENST00000680927.1:c.*1099T>A ENSP00000505473.1:n.*1099T>A
ENST00000680939.1:n.6860T>A
ENST00000681250.1:c.*1636T>A ENSP00000505684.1:n.*1636T>A
ENST00000681256.1:c.*2934T>A ENSP00000505446.1:n.*2934T>A
ENST00000681279.1:n.5785T>A
ENST00000681307.1:n.6032T>A
ENST00000681461.1:n.5687T>A
ENST00000681495.1:c.2456T>A ENSP00000506085.1:p.Met819Lys
ENST00000681558.1:c.2597T>A ENSP00000505568.1:p.Met866Lys
ENST00000681619.1:c.4916T>A ENSP00000505071.1:p.Met1639Lys
ENST00000681663.1:n.1825T>A
ENST00000681692.1:n.2879T>A
ENST00000681716.1:c.*2773T>A ENSP00000505078.1:n.*2773T>A
ENST00000681768.1:c.*2583T>A ENSP00000506311.1:n.*2583T>A
ENST00000681808.1:c.4742T>A ENSP00000505219.1:p.Met1581Lys
ENST00000264276.10:c.4919T>A ENSP00000264276.6:p.Met1640Lys
ENST00000439495.5:c.3023T>A
NM_020919.3:c.4919T>A NP_065970.2:p.Met1640Lys
XM_005246709.2:c.4916T>A XP_005246766.1:p.Met1639Lys
XM_006712654.1:c.4919T>A XP_006712717.1:p.Met1640Lys
XM_006712655.2:c.2855T>A XP_006712718.1:p.Met952Lys
XM_011511530.1:c.4580T>A XP_011509832.1:p.Met1527Lys
XR_922974.1:n.5197T>A
XM_006712654.3:c.4919T>A XP_006712717.1:p.Met1640Lys
XM_006712655.3:c.2855T>A XP_006712718.1:p.Met952Lys
XM_017004569.2:c.4916T>A XP_016860058.1:p.Met1639Lys
XM_017004572.2:c.2537T>A XP_016860061.1:p.Met846Lys
XM_024453024.1:c.4580T>A XP_024308792.1:p.Met1527Lys
XM_024453025.1:c.2852T>A XP_024308793.1:p.Met951Lys
XR_001738864.2:n.5034T>A
XR_001738865.2:n.5031T>A
XR_001738866.2:n.5197T>A
XR_001738867.2:n.5194T>A
XR_002959320.1:n.4090T>A
NM_020919.4:c.4919T>A MANE Select NP_065970.2:p.Met1640Lys