Canonical Allele Identifier: CA350323337
Community Standard Title: NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter)
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201709891G>A , CM000664.2:g.201709891G>A GRCh38
NC_000002.11:g.202574614G>A , CM000664.1:g.202574614G>A GRCh37
NC_000002.10:g.202282859G>A NCBI36
NG_008775.1:g.76282C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.4270C>T MANE Select NP_065970.2:p.Gln1424Ter
ENST00000264276.11:c.4270C>T MANE Select ENSP00000264276.6:p.Gln1424Ter
NM_020919.3:c.4270C>T NP_065970.2:p.Gln1424Ter
ENST00000264276.10:c.4270C>T ENSP00000264276.6:p.Gln1424Ter
ENST00000439495.5:c.2374C>T
ENST00000439495.6:c.*450C>T ENSP00000403832.2:n.*450C>T
ENST00000679409.1:c.*740C>T ENSP00000506531.1:n.*740C>T
ENST00000679416.1:n.5774C>T
ENST00000679427.1:n.1706C>T
ENST00000679435.1:c.4270C>T ENSP00000505218.1:p.Gln1424Ter
ENST00000679516.1:c.4270C>T ENSP00000505187.1:p.Gln1424Ter
ENST00000679618.1:c.*1358C>T ENSP00000506274.1:n.*1358C>T
ENST00000679630.1:n.6119C>T
ENST00000679635.1:n.2297C>T
ENST00000679686.1:n.4384C>T
ENST00000679701.1:n.7262C>T
ENST00000679916.1:c.*618C>T ENSP00000506172.1:n.*618C>T
ENST00000680000.1:c.4270C>T ENSP00000506173.1:p.Gln1424Ter
ENST00000680135.1:c.*2231C>T ENSP00000506211.1:n.*2231C>T
ENST00000680149.1:c.4267C>T ENSP00000506497.1:p.Gln1423Ter
ENST00000680163.1:c.4270C>T ENSP00000505092.1:p.Gln1424Ter
ENST00000680174.1:n.4961C>T
ENST00000680236.1:c.*1331C>T ENSP00000506212.1:n.*1331C>T
ENST00000680441.1:n.2828C>T
ENST00000680497.1:c.4372C>T ENSP00000505954.1:p.Gln1458Ter
ENST00000680508.1:c.4267C>T ENSP00000505749.1:p.Gln1423Ter
ENST00000680569.1:c.*1978C>T ENSP00000505522.1:n.*1978C>T
ENST00000680634.1:n.778C>T
ENST00000680722.1:n.2070C>T
ENST00000680726.1:c.4270C>T ENSP00000505505.1:p.Gln1424Ter
ENST00000680759.1:c.4102C>T ENSP00000505848.1:p.Gln1368Ter
ENST00000680814.1:c.4270C>T ENSP00000505710.1:p.Gln1424Ter
ENST00000680828.1:c.*1964C>T ENSP00000505249.1:n.*1964C>T
ENST00000680861.1:c.4270C>T ENSP00000505043.1:p.Gln1424Ter
ENST00000680927.1:c.*450C>T ENSP00000505473.1:n.*450C>T
ENST00000680939.1:n.4612C>T
ENST00000681250.1:c.*987C>T ENSP00000505684.1:n.*987C>T
ENST00000681256.1:c.*2285C>T ENSP00000505446.1:n.*2285C>T
ENST00000681279.1:n.5136C>T
ENST00000681307.1:n.5383C>T
ENST00000681461.1:n.5038C>T
ENST00000681495.1:c.1807C>T ENSP00000506085.1:p.Gln603Ter
ENST00000681558.1:c.1948C>T ENSP00000505568.1:p.Gln650Ter
ENST00000681619.1:c.4267C>T ENSP00000505071.1:p.Gln1423Ter
ENST00000681663.1:n.1176C>T
ENST00000681692.1:n.2230C>T
ENST00000681716.1:c.*2124C>T ENSP00000505078.1:n.*2124C>T
ENST00000681768.1:c.*1934C>T ENSP00000506311.1:n.*1934C>T
ENST00000681808.1:c.4270C>T ENSP00000505219.1:p.Gln1424Ter
XM_005246709.2:c.4267C>T XP_005246766.1:p.Gln1423Ter
XM_006712654.1:c.4270C>T XP_006712717.1:p.Gln1424Ter
XM_006712654.3:c.4270C>T XP_006712717.1:p.Gln1424Ter
XM_006712655.2:c.2206C>T XP_006712718.1:p.Gln736Ter
XM_006712655.3:c.2206C>T XP_006712718.1:p.Gln736Ter
XM_011511530.1:c.3931C>T XP_011509832.1:p.Gln1311Ter
XM_017004569.2:c.4267C>T XP_016860058.1:p.Gln1423Ter
XM_017004572.2:c.1888C>T XP_016860061.1:p.Gln630Ter
XM_024453024.1:c.3931C>T XP_024308792.1:p.Gln1311Ter
XM_024453025.1:c.2203C>T XP_024308793.1:p.Gln735Ter
XR_001738864.2:n.4405C>T
XR_001738865.2:n.4402C>T
XR_001738866.2:n.4548C>T
XR_001738867.2:n.4545C>T
XR_002959320.1:n.3461C>T
XR_922974.1:n.4548C>T