Canonical Allele Identifier: CA350320224
Gene: ALS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704141A>C , CM000664.2:g.201704141A>C GRCh38
NC_000002.11:g.202568864A>C , CM000664.1:g.202568864A>C GRCh37
NC_000002.10:g.202277109A>C NCBI36
NG_008775.1:g.82032T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4916T>G MANE Select ENSP00000264276.6:p.Ile1639Arg
ENST00000439495.6:c.*1096T>G ENSP00000403832.2:n.*1096T>G
ENST00000679409.1:c.*1621T>G ENSP00000506531.1:n.*1621T>G
ENST00000679416.1:n.6420T>G
ENST00000679427.1:n.2587T>G
ENST00000679435.1:c.4916T>G ENSP00000505218.1:p.Ile1639Arg
ENST00000679516.1:c.4916T>G ENSP00000505187.1:p.Ile1639Arg
ENST00000679618.1:c.*2004T>G ENSP00000506274.1:n.*2004T>G
ENST00000679630.1:n.6765T>G
ENST00000679635.1:n.3178T>G
ENST00000679686.1:n.5030T>G
ENST00000679701.1:n.7908T>G
ENST00000679916.1:c.*1264T>G ENSP00000506172.1:n.*1264T>G
ENST00000680000.1:c.4916T>G ENSP00000506173.1:p.Ile1639Arg
ENST00000680135.1:c.*2877T>G ENSP00000506211.1:n.*2877T>G
ENST00000680149.1:c.*198T>G ENSP00000506497.1:n.*198T>G
ENST00000680163.1:c.4916T>G ENSP00000505092.1:p.Ile1639Arg
ENST00000680174.1:n.5607T>G
ENST00000680236.1:c.*1977T>G ENSP00000506212.1:n.*1977T>G
ENST00000680404.1:n.431T>G
ENST00000680441.1:n.3474T>G
ENST00000680497.1:c.5018T>G ENSP00000505954.1:p.Ile1673Arg
ENST00000680508.1:c.*72T>G ENSP00000505749.1:n.*72T>G
ENST00000680569.1:c.*2859T>G ENSP00000505522.1:n.*2859T>G
ENST00000680634.1:n.1424T>G
ENST00000680722.1:n.2716T>G
ENST00000680726.1:c.*198T>G ENSP00000505505.1:n.*198T>G
ENST00000680759.1:c.4748T>G ENSP00000505848.1:p.Ile1583Arg
ENST00000680814.1:c.4838+313T>G ENSP00000505710.1:n.4838+313T>G
ENST00000680828.1:c.*2610T>G ENSP00000505249.1:n.*2610T>G
ENST00000680861.1:c.4916T>G ENSP00000505043.1:p.Ile1639Arg
ENST00000680927.1:c.*1096T>G ENSP00000505473.1:n.*1096T>G
ENST00000680939.1:n.6857T>G
ENST00000681250.1:c.*1633T>G ENSP00000505684.1:n.*1633T>G
ENST00000681256.1:c.*2931T>G ENSP00000505446.1:n.*2931T>G
ENST00000681279.1:n.5782T>G
ENST00000681307.1:n.6029T>G
ENST00000681461.1:n.5684T>G
ENST00000681495.1:c.2453T>G ENSP00000506085.1:p.Ile818Arg
ENST00000681558.1:c.2594T>G ENSP00000505568.1:p.Ile865Arg
ENST00000681619.1:c.4913T>G ENSP00000505071.1:p.Ile1638Arg
ENST00000681663.1:n.1822T>G
ENST00000681692.1:n.2876T>G
ENST00000681716.1:c.*2770T>G ENSP00000505078.1:n.*2770T>G
ENST00000681768.1:c.*2580T>G ENSP00000506311.1:n.*2580T>G
ENST00000681808.1:c.4739T>G ENSP00000505219.1:p.Ile1580Arg
ENST00000264276.10:c.4916T>G ENSP00000264276.6:p.Ile1639Arg
ENST00000439495.5:c.3020T>G
NM_020919.3:c.4916T>G NP_065970.2:p.Ile1639Arg
XM_005246709.2:c.4913T>G XP_005246766.1:p.Ile1638Arg
XM_006712654.1:c.4916T>G XP_006712717.1:p.Ile1639Arg
XM_006712655.2:c.2852T>G XP_006712718.1:p.Ile951Arg
XM_011511530.1:c.4577T>G XP_011509832.1:p.Ile1526Arg
XR_922974.1:n.5194T>G
XM_006712654.3:c.4916T>G XP_006712717.1:p.Ile1639Arg
XM_006712655.3:c.2852T>G XP_006712718.1:p.Ile951Arg
XM_017004569.2:c.4913T>G XP_016860058.1:p.Ile1638Arg
XM_017004572.2:c.2534T>G XP_016860061.1:p.Ile845Arg
XM_024453024.1:c.4577T>G XP_024308792.1:p.Ile1526Arg
XM_024453025.1:c.2849T>G XP_024308793.1:p.Ile950Arg
XR_001738864.2:n.5031T>G
XR_001738865.2:n.5028T>G
XR_001738866.2:n.5194T>G
XR_001738867.2:n.5191T>G
XR_002959320.1:n.4087T>G
NM_020919.4:c.4916T>G MANE Select NP_065970.2:p.Ile1639Arg