Canonical Allele Identifier: CA2057606
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201707955T>G , CM000664.2:g.201707955T>G GRCh38
NC_000002.11:g.202572678T>G , CM000664.1:g.202572678T>G GRCh37
NC_000002.10:g.202280923T>G NCBI36
NG_008775.1:g.78218A>C

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.4317A>C MANE Select NP_065970.2:p.Thr1439=
ENST00000264276.11:c.4317A>C MANE Select ENSP00000264276.6:p.Thr1439=
NM_020919.3:c.4317A>C NP_065970.2:p.Thr1439=
ENST00000264276.10:c.4317A>C ENSP00000264276.6:p.Thr1439=
ENST00000439495.5:c.2421A>C
ENST00000439495.6:c.*497A>C ENSP00000403832.2:n.*497A>C
ENST00000679409.1:c.*787A>C ENSP00000506531.1:n.*787A>C
ENST00000679416.1:n.5821A>C
ENST00000679427.1:n.1753A>C
ENST00000679435.1:c.4317A>C ENSP00000505218.1:p.Thr1439=
ENST00000679516.1:c.4317A>C ENSP00000505187.1:p.Thr1439=
ENST00000679618.1:c.*1405A>C ENSP00000506274.1:n.*1405A>C
ENST00000679630.1:n.6166A>C
ENST00000679635.1:n.2344A>C
ENST00000679686.1:n.4431A>C
ENST00000679701.1:n.7309A>C
ENST00000679916.1:c.*665A>C ENSP00000506172.1:n.*665A>C
ENST00000680000.1:c.4317A>C ENSP00000506173.1:p.Thr1439=
ENST00000680135.1:c.*2278A>C ENSP00000506211.1:n.*2278A>C
ENST00000680149.1:c.4314A>C ENSP00000506497.1:p.Thr1438=
ENST00000680163.1:c.4317A>C ENSP00000505092.1:p.Thr1439=
ENST00000680174.1:n.5008A>C
ENST00000680236.1:c.*1378A>C ENSP00000506212.1:n.*1378A>C
ENST00000680441.1:n.2875A>C
ENST00000680497.1:c.4419A>C ENSP00000505954.1:p.Thr1473=
ENST00000680508.1:c.4314A>C ENSP00000505749.1:p.Thr1438=
ENST00000680569.1:c.*2025A>C ENSP00000505522.1:n.*2025A>C
ENST00000680634.1:n.825A>C
ENST00000680722.1:n.2117A>C
ENST00000680726.1:c.4317A>C ENSP00000505505.1:p.Thr1439=
ENST00000680759.1:c.4149A>C ENSP00000505848.1:p.Thr1383=
ENST00000680814.1:c.4317A>C ENSP00000505710.1:p.Thr1439=
ENST00000680828.1:c.*2011A>C ENSP00000505249.1:n.*2011A>C
ENST00000680861.1:c.4317A>C ENSP00000505043.1:p.Thr1439=
ENST00000680927.1:c.*497A>C ENSP00000505473.1:n.*497A>C
ENST00000680939.1:n.4659A>C
ENST00000681250.1:c.*1034A>C ENSP00000505684.1:n.*1034A>C
ENST00000681256.1:c.*2332A>C ENSP00000505446.1:n.*2332A>C
ENST00000681279.1:n.5183A>C
ENST00000681307.1:n.5430A>C
ENST00000681461.1:n.5085A>C
ENST00000681495.1:c.1854A>C ENSP00000506085.1:p.Thr618=
ENST00000681558.1:c.1995A>C ENSP00000505568.1:p.Thr665=
ENST00000681619.1:c.4314A>C ENSP00000505071.1:p.Thr1438=
ENST00000681663.1:n.1223A>C
ENST00000681692.1:n.2277A>C
ENST00000681716.1:c.*2171A>C ENSP00000505078.1:n.*2171A>C
ENST00000681768.1:c.*1981A>C ENSP00000506311.1:n.*1981A>C
ENST00000681808.1:c.4317A>C ENSP00000505219.1:p.Thr1439=
XM_005246709.2:c.4314A>C XP_005246766.1:p.Thr1438=
XM_006712654.1:c.4317A>C XP_006712717.1:p.Thr1439=
XM_006712654.3:c.4317A>C XP_006712717.1:p.Thr1439=
XM_006712655.2:c.2253A>C XP_006712718.1:p.Thr751=
XM_006712655.3:c.2253A>C XP_006712718.1:p.Thr751=
XM_011511530.1:c.3978A>C XP_011509832.1:p.Thr1326=
XM_017004569.2:c.4314A>C XP_016860058.1:p.Thr1438=
XM_017004572.2:c.1935A>C XP_016860061.1:p.Thr645=
XM_024453024.1:c.3978A>C XP_024308792.1:p.Thr1326=
XM_024453025.1:c.2250A>C XP_024308793.1:p.Thr750=
XR_001738864.2:n.4452A>C
XR_001738865.2:n.4449A>C
XR_001738866.2:n.4595A>C
XR_001738867.2:n.4592A>C
XR_002959320.1:n.3508A>C
XR_922974.1:n.4595A>C