Canonical Allele Identifier: CA350320513
Gene: ALS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704214T>C , CM000664.2:g.201704214T>C GRCh38
NC_000002.11:g.202568937T>C , CM000664.1:g.202568937T>C GRCh37
NC_000002.10:g.202277182T>C NCBI36
NG_008775.1:g.81959A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4843A>G MANE Select ENSP00000264276.6:p.Arg1615Gly
ENST00000439495.6:c.*1023A>G ENSP00000403832.2:n.*1023A>G
ENST00000679409.1:c.*1548A>G ENSP00000506531.1:n.*1548A>G
ENST00000679416.1:n.6347A>G
ENST00000679427.1:n.2514A>G
ENST00000679435.1:c.4843A>G ENSP00000505218.1:p.Arg1615Gly
ENST00000679516.1:c.4843A>G ENSP00000505187.1:p.Arg1615Gly
ENST00000679618.1:c.*1931A>G ENSP00000506274.1:n.*1931A>G
ENST00000679630.1:n.6692A>G
ENST00000679635.1:n.3105A>G
ENST00000679686.1:n.4957A>G
ENST00000679701.1:n.7835A>G
ENST00000679916.1:c.*1191A>G ENSP00000506172.1:n.*1191A>G
ENST00000680000.1:c.4843A>G ENSP00000506173.1:p.Arg1615Gly
ENST00000680135.1:c.*2804A>G ENSP00000506211.1:n.*2804A>G
ENST00000680149.1:c.*125A>G ENSP00000506497.1:n.*125A>G
ENST00000680163.1:c.4843A>G ENSP00000505092.1:p.Arg1615Gly
ENST00000680174.1:n.5534A>G
ENST00000680236.1:c.*1904A>G ENSP00000506212.1:n.*1904A>G
ENST00000680404.1:n.358A>G
ENST00000680441.1:n.3401A>G
ENST00000680497.1:c.4945A>G ENSP00000505954.1:p.Arg1649Gly
ENST00000680508.1:c.4862A>G ENSP00000505749.1:p.Ter1621Trp
ENST00000680569.1:c.*2786A>G ENSP00000505522.1:n.*2786A>G
ENST00000680634.1:n.1351A>G
ENST00000680722.1:n.2643A>G
ENST00000680726.1:c.*125A>G ENSP00000505505.1:n.*125A>G
ENST00000680759.1:c.4675A>G ENSP00000505848.1:p.Arg1559Gly
ENST00000680814.1:c.4838+240A>G ENSP00000505710.1:n.4838+240A>G
ENST00000680828.1:c.*2537A>G ENSP00000505249.1:n.*2537A>G
ENST00000680861.1:c.4843A>G ENSP00000505043.1:p.Arg1615Gly
ENST00000680927.1:c.*1023A>G ENSP00000505473.1:n.*1023A>G
ENST00000680939.1:n.6784A>G
ENST00000681250.1:c.*1560A>G ENSP00000505684.1:n.*1560A>G
ENST00000681256.1:c.*2858A>G ENSP00000505446.1:n.*2858A>G
ENST00000681279.1:n.5709A>G
ENST00000681307.1:n.5956A>G
ENST00000681461.1:n.5611A>G
ENST00000681495.1:c.2380A>G ENSP00000506085.1:p.Arg794Gly
ENST00000681558.1:c.2521A>G ENSP00000505568.1:p.Arg841Gly
ENST00000681619.1:c.4840A>G ENSP00000505071.1:p.Arg1614Gly
ENST00000681663.1:n.1749A>G
ENST00000681692.1:n.2803A>G
ENST00000681716.1:c.*2697A>G ENSP00000505078.1:n.*2697A>G
ENST00000681768.1:c.*2507A>G ENSP00000506311.1:n.*2507A>G
ENST00000681808.1:c.4666A>G ENSP00000505219.1:p.Arg1556Gly
ENST00000264276.10:c.4843A>G ENSP00000264276.6:p.Arg1615Gly
ENST00000439495.5:c.2947A>G
NM_020919.3:c.4843A>G NP_065970.2:p.Arg1615Gly
XM_005246709.2:c.4840A>G XP_005246766.1:p.Arg1614Gly
XM_006712654.1:c.4843A>G XP_006712717.1:p.Arg1615Gly
XM_006712655.2:c.2779A>G XP_006712718.1:p.Arg927Gly
XM_011511530.1:c.4504A>G XP_011509832.1:p.Arg1502Gly
XR_922974.1:n.5121A>G
XM_006712654.3:c.4843A>G XP_006712717.1:p.Arg1615Gly
XM_006712655.3:c.2779A>G XP_006712718.1:p.Arg927Gly
XM_017004569.2:c.4840A>G XP_016860058.1:p.Arg1614Gly
XM_017004572.2:c.2461A>G XP_016860061.1:p.Arg821Gly
XM_024453024.1:c.4504A>G XP_024308792.1:p.Arg1502Gly
XM_024453025.1:c.2776A>G XP_024308793.1:p.Arg926Gly
XR_001738864.2:n.4958A>G
XR_001738865.2:n.4955A>G
XR_001738866.2:n.5121A>G
XR_001738867.2:n.5118A>G
XR_002959320.1:n.4014A>G
NM_020919.4:c.4843A>G MANE Select NP_065970.2:p.Arg1615Gly