Canonical Allele Identifier: CA350320291
Gene: ALS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704154C>G , CM000664.2:g.201704154C>G GRCh38
NC_000002.11:g.202568877C>G , CM000664.1:g.202568877C>G GRCh37
NC_000002.10:g.202277122C>G NCBI36
NG_008775.1:g.82019G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4903G>C MANE Select ENSP00000264276.6:p.Gly1635Arg
ENST00000439495.6:c.*1083G>C ENSP00000403832.2:n.*1083G>C
ENST00000679409.1:c.*1608G>C ENSP00000506531.1:n.*1608G>C
ENST00000679416.1:n.6407G>C
ENST00000679427.1:n.2574G>C
ENST00000679435.1:c.4903G>C ENSP00000505218.1:p.Gly1635Arg
ENST00000679516.1:c.4903G>C ENSP00000505187.1:p.Gly1635Arg
ENST00000679618.1:c.*1991G>C ENSP00000506274.1:n.*1991G>C
ENST00000679630.1:n.6752G>C
ENST00000679635.1:n.3165G>C
ENST00000679686.1:n.5017G>C
ENST00000679701.1:n.7895G>C
ENST00000679916.1:c.*1251G>C ENSP00000506172.1:n.*1251G>C
ENST00000680000.1:c.4903G>C ENSP00000506173.1:p.Gly1635Arg
ENST00000680135.1:c.*2864G>C ENSP00000506211.1:n.*2864G>C
ENST00000680149.1:c.*185G>C ENSP00000506497.1:n.*185G>C
ENST00000680163.1:c.4903G>C ENSP00000505092.1:p.Gly1635Arg
ENST00000680174.1:n.5594G>C
ENST00000680236.1:c.*1964G>C ENSP00000506212.1:n.*1964G>C
ENST00000680404.1:n.418G>C
ENST00000680441.1:n.3461G>C
ENST00000680497.1:c.5005G>C ENSP00000505954.1:p.Gly1669Arg
ENST00000680508.1:c.*59G>C ENSP00000505749.1:n.*59G>C
ENST00000680569.1:c.*2846G>C ENSP00000505522.1:n.*2846G>C
ENST00000680634.1:n.1411G>C
ENST00000680722.1:n.2703G>C
ENST00000680726.1:c.*185G>C ENSP00000505505.1:n.*185G>C
ENST00000680759.1:c.4735G>C ENSP00000505848.1:p.Gly1579Arg
ENST00000680814.1:c.4838+300G>C ENSP00000505710.1:n.4838+300G>C
ENST00000680828.1:c.*2597G>C ENSP00000505249.1:n.*2597G>C
ENST00000680861.1:c.4903G>C ENSP00000505043.1:p.Gly1635Arg
ENST00000680927.1:c.*1083G>C ENSP00000505473.1:n.*1083G>C
ENST00000680939.1:n.6844G>C
ENST00000681250.1:c.*1620G>C ENSP00000505684.1:n.*1620G>C
ENST00000681256.1:c.*2918G>C ENSP00000505446.1:n.*2918G>C
ENST00000681279.1:n.5769G>C
ENST00000681307.1:n.6016G>C
ENST00000681461.1:n.5671G>C
ENST00000681495.1:c.2440G>C ENSP00000506085.1:p.Gly814Arg
ENST00000681558.1:c.2581G>C ENSP00000505568.1:p.Gly861Arg
ENST00000681619.1:c.4900G>C ENSP00000505071.1:p.Gly1634Arg
ENST00000681663.1:n.1809G>C
ENST00000681692.1:n.2863G>C
ENST00000681716.1:c.*2757G>C ENSP00000505078.1:n.*2757G>C
ENST00000681768.1:c.*2567G>C ENSP00000506311.1:n.*2567G>C
ENST00000681808.1:c.4726G>C ENSP00000505219.1:p.Gly1576Arg
ENST00000264276.10:c.4903G>C ENSP00000264276.6:p.Gly1635Arg
ENST00000439495.5:c.3007G>C
NM_020919.3:c.4903G>C NP_065970.2:p.Gly1635Arg
XM_005246709.2:c.4900G>C XP_005246766.1:p.Gly1634Arg
XM_006712654.1:c.4903G>C XP_006712717.1:p.Gly1635Arg
XM_006712655.2:c.2839G>C XP_006712718.1:p.Gly947Arg
XM_011511530.1:c.4564G>C XP_011509832.1:p.Gly1522Arg
XR_922974.1:n.5181G>C
XM_006712654.3:c.4903G>C XP_006712717.1:p.Gly1635Arg
XM_006712655.3:c.2839G>C XP_006712718.1:p.Gly947Arg
XM_017004569.2:c.4900G>C XP_016860058.1:p.Gly1634Arg
XM_017004572.2:c.2521G>C XP_016860061.1:p.Gly841Arg
XM_024453024.1:c.4564G>C XP_024308792.1:p.Gly1522Arg
XM_024453025.1:c.2836G>C XP_024308793.1:p.Gly946Arg
XR_001738864.2:n.5018G>C
XR_001738865.2:n.5015G>C
XR_001738866.2:n.5181G>C
XR_001738867.2:n.5178G>C
XR_002959320.1:n.4074G>C
NM_020919.4:c.4903G>C MANE Select NP_065970.2:p.Gly1635Arg