Canonical Allele Identifier: CA2057626
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201709865T>C , CM000664.2:g.201709865T>C GRCh38
NC_000002.11:g.202574588T>C , CM000664.1:g.202574588T>C GRCh37
NC_000002.10:g.202282833T>C NCBI36
NG_008775.1:g.76308A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4280+16A>G MANE Select ENSP00000264276.6:n.4280+16A>G
ENST00000439495.6:c.*460+16A>G ENSP00000403832.2:n.*460+16A>G
ENST00000679409.1:c.*750+16A>G ENSP00000506531.1:n.*750+16A>G
ENST00000679416.1:n.5784+16A>G
ENST00000679427.1:n.1716+16A>G
ENST00000679435.1:c.4280+16A>G ENSP00000505218.1:n.4280+16A>G
ENST00000679516.1:c.4280+16A>G ENSP00000505187.1:n.4280+16A>G
ENST00000679618.1:c.*1368+16A>G ENSP00000506274.1:n.*1368+16A>G
ENST00000679630.1:n.6129+16A>G
ENST00000679635.1:n.2307+16A>G
ENST00000679686.1:n.4394+16A>G
ENST00000679701.1:n.7272+16A>G
ENST00000679916.1:c.*628+16A>G ENSP00000506172.1:n.*628+16A>G
ENST00000680000.1:c.4280+16A>G ENSP00000506173.1:n.4280+16A>G
ENST00000680135.1:c.*2241+16A>G ENSP00000506211.1:n.*2241+16A>G
ENST00000680149.1:c.4277+16A>G ENSP00000506497.1:n.4277+16A>G
ENST00000680163.1:c.4280+16A>G ENSP00000505092.1:n.4280+16A>G
ENST00000680174.1:n.4971+16A>G
ENST00000680236.1:c.*1341+16A>G ENSP00000506212.1:n.*1341+16A>G
ENST00000680441.1:n.2838+16A>G
ENST00000680497.1:c.4382+16A>G ENSP00000505954.1:n.4382+16A>G
ENST00000680508.1:c.4277+16A>G ENSP00000505749.1:n.4277+16A>G
ENST00000680569.1:c.*1988+16A>G ENSP00000505522.1:n.*1988+16A>G
ENST00000680634.1:n.788+16A>G
ENST00000680722.1:n.2080+16A>G
ENST00000680726.1:c.4280+16A>G ENSP00000505505.1:n.4280+16A>G
ENST00000680759.1:c.4112+16A>G ENSP00000505848.1:n.4112+16A>G
ENST00000680814.1:c.4280+16A>G ENSP00000505710.1:n.4280+16A>G
ENST00000680828.1:c.*1974+16A>G ENSP00000505249.1:n.*1974+16A>G
ENST00000680861.1:c.4280+16A>G ENSP00000505043.1:n.4280+16A>G
ENST00000680927.1:c.*460+16A>G ENSP00000505473.1:n.*460+16A>G
ENST00000680939.1:n.4622+16A>G
ENST00000681250.1:c.*997+16A>G ENSP00000505684.1:n.*997+16A>G
ENST00000681256.1:c.*2295+16A>G ENSP00000505446.1:n.*2295+16A>G
ENST00000681279.1:n.5146+16A>G
ENST00000681307.1:n.5393+16A>G
ENST00000681461.1:n.5048+16A>G
ENST00000681495.1:c.1817+16A>G ENSP00000506085.1:n.1817+16A>G
ENST00000681558.1:c.1958+16A>G ENSP00000505568.1:n.1958+16A>G
ENST00000681619.1:c.4277+16A>G ENSP00000505071.1:n.4277+16A>G
ENST00000681663.1:n.1186+16A>G
ENST00000681692.1:n.2240+16A>G
ENST00000681716.1:c.*2134+16A>G ENSP00000505078.1:n.*2134+16A>G
ENST00000681768.1:c.*1944+16A>G ENSP00000506311.1:n.*1944+16A>G
ENST00000681808.1:c.4280+16A>G ENSP00000505219.1:n.4280+16A>G
ENST00000264276.10:c.4280+16A>G ENSP00000264276.6:n.4280+16A>G
ENST00000439495.5:c.2384+16A>G
NM_020919.3:c.4280+16A>G NP_065970.2:n.4280+16A>G
XM_005246709.2:c.4277+16A>G XP_005246766.1:n.4277+16A>G
XM_006712654.1:c.4280+16A>G XP_006712717.1:n.4280+16A>G
XM_006712655.2:c.2216+16A>G XP_006712718.1:n.2216+16A>G
XM_011511530.1:c.3941+16A>G XP_011509832.1:n.3941+16A>G
XR_922974.1:n.4558+16A>G
XM_006712654.3:c.4280+16A>G XP_006712717.1:n.4280+16A>G
XM_006712655.3:c.2216+16A>G XP_006712718.1:n.2216+16A>G
XM_017004569.2:c.4277+16A>G XP_016860058.1:n.4277+16A>G
XM_017004572.2:c.1898+16A>G XP_016860061.1:n.1898+16A>G
XM_024453024.1:c.3941+16A>G XP_024308792.1:n.3941+16A>G
XM_024453025.1:c.2213+16A>G XP_024308793.1:n.2213+16A>G
XR_001738864.2:n.4415+16A>G
XR_001738865.2:n.4412+16A>G
XR_001738866.2:n.4558+16A>G
XR_001738867.2:n.4555+16A>G
XR_002959320.1:n.3471+16A>G
NM_020919.4:c.4280+16A>G MANE Select NP_065970.2:n.4280+16A>G