Canonical Allele Identifier: CA1321156505
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704147T= , CM000664.2:g.201704147T= GRCh38
NC_000002.11:g.202568870T= , CM000664.1:g.202568870T= GRCh37
NC_000002.10:g.202277115T= NCBI36
NG_008775.1:g.82026A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4910A= MANE Select ENSP00000264276.6:p.Gln1637=
ENST00000439495.6:c.*1090A= ENSP00000403832.2:n.*1090A=
ENST00000679409.1:c.*1615A= ENSP00000506531.1:n.*1615A=
ENST00000679416.1:n.6414A=
ENST00000679427.1:n.2581A=
ENST00000679435.1:c.4910A= ENSP00000505218.1:p.Gln1637=
ENST00000679516.1:c.4910A= ENSP00000505187.1:p.Gln1637=
ENST00000679618.1:c.*1998A= ENSP00000506274.1:n.*1998A=
ENST00000679630.1:n.6759A=
ENST00000679635.1:n.3172A=
ENST00000679686.1:n.5024A=
ENST00000679701.1:n.7902A=
ENST00000679916.1:c.*1258A= ENSP00000506172.1:n.*1258A=
ENST00000680000.1:c.4910A= ENSP00000506173.1:p.Gln1637=
ENST00000680135.1:c.*2871A= ENSP00000506211.1:n.*2871A=
ENST00000680149.1:c.*192A= ENSP00000506497.1:n.*192A=
ENST00000680163.1:c.4910A= ENSP00000505092.1:p.Gln1637=
ENST00000680174.1:n.5601A=
ENST00000680236.1:c.*1971A= ENSP00000506212.1:n.*1971A=
ENST00000680404.1:n.425A=
ENST00000680441.1:n.3468A=
ENST00000680497.1:c.5012A= ENSP00000505954.1:p.Gln1671=
ENST00000680508.1:c.*66A= ENSP00000505749.1:n.*66A=
ENST00000680569.1:c.*2853A= ENSP00000505522.1:n.*2853A=
ENST00000680634.1:n.1418A=
ENST00000680722.1:n.2710A=
ENST00000680726.1:c.*192A= ENSP00000505505.1:n.*192A=
ENST00000680759.1:c.4742A= ENSP00000505848.1:p.Gln1581=
ENST00000680814.1:c.4838+307A= ENSP00000505710.1:n.4838+307A=
ENST00000680828.1:c.*2604A= ENSP00000505249.1:n.*2604A=
ENST00000680861.1:c.4910A= ENSP00000505043.1:p.Gln1637=
ENST00000680927.1:c.*1090A= ENSP00000505473.1:n.*1090A=
ENST00000680939.1:n.6851A=
ENST00000681250.1:c.*1627A= ENSP00000505684.1:n.*1627A=
ENST00000681256.1:c.*2925A= ENSP00000505446.1:n.*2925A=
ENST00000681279.1:n.5776A=
ENST00000681307.1:n.6023A=
ENST00000681461.1:n.5678A=
ENST00000681495.1:c.2447A= ENSP00000506085.1:p.Gln816=
ENST00000681558.1:c.2588A= ENSP00000505568.1:p.Gln863=
ENST00000681619.1:c.4907A= ENSP00000505071.1:p.Gln1636=
ENST00000681663.1:n.1816A=
ENST00000681692.1:n.2870A=
ENST00000681716.1:c.*2764A= ENSP00000505078.1:n.*2764A=
ENST00000681768.1:c.*2574A= ENSP00000506311.1:n.*2574A=
ENST00000681808.1:c.4733A= ENSP00000505219.1:p.Gln1578=
ENST00000264276.10:c.4910A= ENSP00000264276.6:p.Gln1637=
ENST00000439495.5:c.3014A=
NM_020919.3:c.4910A= NP_065970.2:p.Gln1637=
XM_005246709.2:c.4907A= XP_005246766.1:p.Gln1636=
XM_006712654.1:c.4910A= XP_006712717.1:p.Gln1637=
XM_006712655.2:c.2846A= XP_006712718.1:p.Gln949=
XM_011511530.1:c.4571A= XP_011509832.1:p.Gln1524=
XR_922974.1:n.5188A=
XM_006712654.3:c.4910A= XP_006712717.1:p.Gln1637=
XM_006712655.3:c.2846A= XP_006712718.1:p.Gln949=
XM_017004569.2:c.4907A= XP_016860058.1:p.Gln1636=
XM_017004572.2:c.2528A= XP_016860061.1:p.Gln843=
XM_024453024.1:c.4571A= XP_024308792.1:p.Gln1524=
XM_024453025.1:c.2843A= XP_024308793.1:p.Gln948=
XR_001738864.2:n.5025A=
XR_001738865.2:n.5022A=
XR_001738866.2:n.5188A=
XR_001738867.2:n.5185A=
XR_002959320.1:n.4081A=
NM_020919.4:c.4910A= MANE Select NP_065970.2:p.Gln1637=