Canonical Allele Identifier: CA63980825
Community Standard Title: NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter)
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201707891G>A , CM000664.2:g.201707891G>A GRCh38
NC_000002.11:g.202572614G>A , CM000664.1:g.202572614G>A GRCh37
NC_000002.10:g.202280859G>A NCBI36
NG_008775.1:g.78282C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.4381C>T MANE Select NP_065970.2:p.Arg1461Ter
ENST00000264276.11:c.4381C>T MANE Select ENSP00000264276.6:p.Arg1461Ter
NM_020919.3:c.4381C>T NP_065970.2:p.Arg1461Ter
ENST00000264276.10:c.4381C>T ENSP00000264276.6:p.Arg1461Ter
ENST00000439495.5:c.2485C>T
ENST00000439495.6:c.*561C>T ENSP00000403832.2:n.*561C>T
ENST00000679409.1:c.*851C>T ENSP00000506531.1:n.*851C>T
ENST00000679416.1:n.5885C>T
ENST00000679427.1:n.1817C>T
ENST00000679435.1:c.4381C>T ENSP00000505218.1:p.Arg1461Ter
ENST00000679516.1:c.4381C>T ENSP00000505187.1:p.Arg1461Ter
ENST00000679618.1:c.*1469C>T ENSP00000506274.1:n.*1469C>T
ENST00000679630.1:n.6230C>T
ENST00000679635.1:n.2408C>T
ENST00000679686.1:n.4495C>T
ENST00000679701.1:n.7373C>T
ENST00000679916.1:c.*729C>T ENSP00000506172.1:n.*729C>T
ENST00000680000.1:c.4381C>T ENSP00000506173.1:p.Arg1461Ter
ENST00000680135.1:c.*2342C>T ENSP00000506211.1:n.*2342C>T
ENST00000680149.1:c.4378C>T ENSP00000506497.1:p.Arg1460Ter
ENST00000680163.1:c.4381C>T ENSP00000505092.1:p.Arg1461Ter
ENST00000680174.1:n.5072C>T
ENST00000680236.1:c.*1442C>T ENSP00000506212.1:n.*1442C>T
ENST00000680441.1:n.2939C>T
ENST00000680497.1:c.4483C>T ENSP00000505954.1:p.Arg1495Ter
ENST00000680508.1:c.4378C>T ENSP00000505749.1:p.Arg1460Ter
ENST00000680569.1:c.*2089C>T ENSP00000505522.1:n.*2089C>T
ENST00000680634.1:n.889C>T
ENST00000680722.1:n.2181C>T
ENST00000680726.1:c.4381C>T ENSP00000505505.1:p.Arg1461Ter
ENST00000680759.1:c.4213C>T ENSP00000505848.1:p.Arg1405Ter
ENST00000680814.1:c.4381C>T ENSP00000505710.1:p.Arg1461Ter
ENST00000680828.1:c.*2075C>T ENSP00000505249.1:n.*2075C>T
ENST00000680861.1:c.4381C>T ENSP00000505043.1:p.Arg1461Ter
ENST00000680927.1:c.*561C>T ENSP00000505473.1:n.*561C>T
ENST00000680939.1:n.4723C>T
ENST00000681250.1:c.*1098C>T ENSP00000505684.1:n.*1098C>T
ENST00000681256.1:c.*2396C>T ENSP00000505446.1:n.*2396C>T
ENST00000681279.1:n.5247C>T
ENST00000681307.1:n.5494C>T
ENST00000681461.1:n.5149C>T
ENST00000681495.1:c.1918C>T ENSP00000506085.1:p.Arg640Ter
ENST00000681558.1:c.2059C>T ENSP00000505568.1:p.Arg687Ter
ENST00000681619.1:c.4378C>T ENSP00000505071.1:p.Arg1460Ter
ENST00000681663.1:n.1287C>T
ENST00000681692.1:n.2341C>T
ENST00000681716.1:c.*2235C>T ENSP00000505078.1:n.*2235C>T
ENST00000681768.1:c.*2045C>T ENSP00000506311.1:n.*2045C>T
ENST00000681808.1:c.4381C>T ENSP00000505219.1:p.Arg1461Ter
XM_005246709.2:c.4378C>T XP_005246766.1:p.Arg1460Ter
XM_006712654.1:c.4381C>T XP_006712717.1:p.Arg1461Ter
XM_006712654.3:c.4381C>T XP_006712717.1:p.Arg1461Ter
XM_006712655.2:c.2317C>T XP_006712718.1:p.Arg773Ter
XM_006712655.3:c.2317C>T XP_006712718.1:p.Arg773Ter
XM_011511530.1:c.4042C>T XP_011509832.1:p.Arg1348Ter
XM_017004569.2:c.4378C>T XP_016860058.1:p.Arg1460Ter
XM_017004572.2:c.1999C>T XP_016860061.1:p.Arg667Ter
XM_024453024.1:c.4042C>T XP_024308792.1:p.Arg1348Ter
XM_024453025.1:c.2314C>T XP_024308793.1:p.Arg772Ter
XR_001738864.2:n.4516C>T
XR_001738865.2:n.4513C>T
XR_001738866.2:n.4659C>T
XR_001738867.2:n.4656C>T
XR_002959320.1:n.3572C>T
XR_922974.1:n.4659C>T