Canonical Allele Identifier: CA1321160866
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201709900G= , CM000664.2:g.201709900G= GRCh38
NC_000002.11:g.202574623G= , CM000664.1:g.202574623G= GRCh37
NC_000002.10:g.202282868G= NCBI36
NG_008775.1:g.76273C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4261C= MANE Select ENSP00000264276.6:p.Arg1421=
ENST00000439495.6:c.*441C= ENSP00000403832.2:n.*441C=
ENST00000679409.1:c.*731C= ENSP00000506531.1:n.*731C=
ENST00000679416.1:n.5765C=
ENST00000679427.1:n.1697C=
ENST00000679435.1:c.4261C= ENSP00000505218.1:p.Arg1421=
ENST00000679516.1:c.4261C= ENSP00000505187.1:p.Arg1421=
ENST00000679618.1:c.*1349C= ENSP00000506274.1:n.*1349C=
ENST00000679630.1:n.6110C=
ENST00000679635.1:n.2288C=
ENST00000679686.1:n.4375C=
ENST00000679701.1:n.7253C=
ENST00000679916.1:c.*609C= ENSP00000506172.1:n.*609C=
ENST00000680000.1:c.4261C= ENSP00000506173.1:p.Arg1421=
ENST00000680135.1:c.*2222C= ENSP00000506211.1:n.*2222C=
ENST00000680149.1:c.4258C= ENSP00000506497.1:p.Arg1420=
ENST00000680163.1:c.4261C= ENSP00000505092.1:p.Arg1421=
ENST00000680174.1:n.4952C=
ENST00000680236.1:c.*1322C= ENSP00000506212.1:n.*1322C=
ENST00000680441.1:n.2819C=
ENST00000680497.1:c.4363C= ENSP00000505954.1:p.Arg1455=
ENST00000680508.1:c.4258C= ENSP00000505749.1:p.Arg1420=
ENST00000680569.1:c.*1969C= ENSP00000505522.1:n.*1969C=
ENST00000680634.1:n.769C=
ENST00000680722.1:n.2061C=
ENST00000680726.1:c.4261C= ENSP00000505505.1:p.Arg1421=
ENST00000680759.1:c.4093C= ENSP00000505848.1:p.Arg1365=
ENST00000680814.1:c.4261C= ENSP00000505710.1:p.Arg1421=
ENST00000680828.1:c.*1955C= ENSP00000505249.1:n.*1955C=
ENST00000680861.1:c.4261C= ENSP00000505043.1:p.Arg1421=
ENST00000680927.1:c.*441C= ENSP00000505473.1:n.*441C=
ENST00000680939.1:n.4603C=
ENST00000681250.1:c.*978C= ENSP00000505684.1:n.*978C=
ENST00000681256.1:c.*2276C= ENSP00000505446.1:n.*2276C=
ENST00000681279.1:n.5127C=
ENST00000681307.1:n.5374C=
ENST00000681461.1:n.5029C=
ENST00000681495.1:c.1798C= ENSP00000506085.1:p.Arg600=
ENST00000681558.1:c.1939C= ENSP00000505568.1:p.Arg647=
ENST00000681619.1:c.4258C= ENSP00000505071.1:p.Arg1420=
ENST00000681663.1:n.1167C=
ENST00000681692.1:n.2221C=
ENST00000681716.1:c.*2115C= ENSP00000505078.1:n.*2115C=
ENST00000681768.1:c.*1925C= ENSP00000506311.1:n.*1925C=
ENST00000681808.1:c.4261C= ENSP00000505219.1:p.Arg1421=
ENST00000264276.10:c.4261C= ENSP00000264276.6:p.Arg1421=
ENST00000439495.5:c.2365C=
NM_020919.3:c.4261C= NP_065970.2:p.Arg1421=
XM_005246709.2:c.4258C= XP_005246766.1:p.Arg1420=
XM_006712654.1:c.4261C= XP_006712717.1:p.Arg1421=
XM_006712655.2:c.2197C= XP_006712718.1:p.Arg733=
XM_011511530.1:c.3922C= XP_011509832.1:p.Arg1308=
XR_922974.1:n.4539C=
XM_006712654.3:c.4261C= XP_006712717.1:p.Arg1421=
XM_006712655.3:c.2197C= XP_006712718.1:p.Arg733=
XM_017004569.2:c.4258C= XP_016860058.1:p.Arg1420=
XM_017004572.2:c.1879C= XP_016860061.1:p.Arg627=
XM_024453024.1:c.3922C= XP_024308792.1:p.Arg1308=
XM_024453025.1:c.2194C= XP_024308793.1:p.Arg732=
XR_001738864.2:n.4396C=
XR_001738865.2:n.4393C=
XR_001738866.2:n.4539C=
XR_001738867.2:n.4536C=
XR_002959320.1:n.3452C=
NM_020919.4:c.4261C= MANE Select NP_065970.2:p.Arg1421=