Canonical Allele Identifier: CA430668210
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201706860A>G , CM000664.2:g.201706860A>G GRCh38
NC_000002.11:g.202571583A>G , CM000664.1:g.202571583A>G GRCh37
NC_000002.10:g.202279828A>G NCBI36
NG_008775.1:g.79313T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4566T>C MANE Select ENSP00000264276.6:p.Phe1522=
ENST00000439495.6:c.*746T>C ENSP00000403832.2:n.*746T>C
ENST00000679409.1:c.*1036T>C ENSP00000506531.1:n.*1036T>C
ENST00000679416.1:n.6070T>C
ENST00000679427.1:n.2002T>C
ENST00000679435.1:c.4566T>C ENSP00000505218.1:p.Phe1522=
ENST00000679516.1:c.4566T>C ENSP00000505187.1:p.Phe1522=
ENST00000679618.1:c.*1654T>C ENSP00000506274.1:n.*1654T>C
ENST00000679630.1:n.6415T>C
ENST00000679635.1:n.2593T>C
ENST00000679686.1:n.4680T>C
ENST00000679701.1:n.7558T>C
ENST00000679916.1:c.*914T>C ENSP00000506172.1:n.*914T>C
ENST00000680000.1:c.4566T>C ENSP00000506173.1:p.Phe1522=
ENST00000680135.1:c.*2527T>C ENSP00000506211.1:n.*2527T>C
ENST00000680149.1:c.4563T>C ENSP00000506497.1:p.Phe1521=
ENST00000680163.1:c.4566T>C ENSP00000505092.1:p.Phe1522=
ENST00000680174.1:n.5257T>C
ENST00000680236.1:c.*1627T>C ENSP00000506212.1:n.*1627T>C
ENST00000680441.1:n.3124T>C
ENST00000680497.1:c.4668T>C ENSP00000505954.1:p.Phe1556=
ENST00000680508.1:c.4563T>C ENSP00000505749.1:p.Phe1521=
ENST00000680569.1:c.*2274T>C ENSP00000505522.1:n.*2274T>C
ENST00000680634.1:n.1074T>C
ENST00000680722.1:n.2366T>C
ENST00000680726.1:c.4566T>C ENSP00000505505.1:p.Phe1522=
ENST00000680759.1:c.4398T>C ENSP00000505848.1:p.Phe1466=
ENST00000680814.1:c.4566T>C ENSP00000505710.1:p.Phe1522=
ENST00000680828.1:c.*2260T>C ENSP00000505249.1:n.*2260T>C
ENST00000680861.1:c.4566T>C ENSP00000505043.1:p.Phe1522=
ENST00000680927.1:c.*746T>C ENSP00000505473.1:n.*746T>C
ENST00000680939.1:n.4908T>C
ENST00000681250.1:c.*1283T>C ENSP00000505684.1:n.*1283T>C
ENST00000681256.1:c.*2581T>C ENSP00000505446.1:n.*2581T>C
ENST00000681279.1:n.5432T>C
ENST00000681307.1:n.5679T>C
ENST00000681461.1:n.5334T>C
ENST00000681495.1:c.2103T>C ENSP00000506085.1:p.Phe701=
ENST00000681558.1:c.2244T>C ENSP00000505568.1:p.Phe748=
ENST00000681619.1:c.4563T>C ENSP00000505071.1:p.Phe1521=
ENST00000681663.1:n.1472T>C
ENST00000681692.1:n.2526T>C
ENST00000681716.1:c.*2420T>C ENSP00000505078.1:n.*2420T>C
ENST00000681768.1:c.*2230T>C ENSP00000506311.1:n.*2230T>C
ENST00000681808.1:c.4403+1009T>C ENSP00000505219.1:n.4403+1009T>C
ENST00000264276.10:c.4566T>C ENSP00000264276.6:p.Phe1522=
ENST00000439495.5:c.2670T>C
NM_020919.3:c.4566T>C NP_065970.2:p.Phe1522=
XM_005246709.2:c.4563T>C XP_005246766.1:p.Phe1521=
XM_006712654.1:c.4566T>C XP_006712717.1:p.Phe1522=
XM_006712655.2:c.2502T>C XP_006712718.1:p.Phe834=
XM_011511530.1:c.4227T>C XP_011509832.1:p.Phe1409=
XR_922974.1:n.4844T>C
XM_006712654.3:c.4566T>C XP_006712717.1:p.Phe1522=
XM_006712655.3:c.2502T>C XP_006712718.1:p.Phe834=
XM_017004569.2:c.4563T>C XP_016860058.1:p.Phe1521=
XM_017004572.2:c.2184T>C XP_016860061.1:p.Phe728=
XM_024453024.1:c.4227T>C XP_024308792.1:p.Phe1409=
XM_024453025.1:c.2499T>C XP_024308793.1:p.Phe833=
XR_001738864.2:n.4701T>C
XR_001738865.2:n.4698T>C
XR_001738866.2:n.4844T>C
XR_001738867.2:n.4841T>C
XR_002959320.1:n.3757T>C
NM_020919.4:c.4566T>C MANE Select NP_065970.2:p.Phe1522=