Canonical Allele Identifier: CA1321181910
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201723415T= , CM000664.2:g.201723415T= GRCh38
NC_000002.11:g.202588138T= , CM000664.1:g.202588138T= GRCh37
NC_000002.10:g.202296383T= NCBI36
NG_008775.1:g.62758A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.3539A= MANE Select ENSP00000264276.6:p.Gln1180=
ENST00000439495.6:c.1217A= ENSP00000403832.2:p.Gln406=
ENST00000482891.6:n.4307A=
ENST00000494017.6:n.1271A=
ENST00000679409.1:c.1217A= ENSP00000506531.1:p.Gln406=
ENST00000679416.1:n.5043A=
ENST00000679435.1:c.3539A= ENSP00000505218.1:p.Gln1180=
ENST00000679516.1:c.3539A= ENSP00000505187.1:p.Gln1180=
ENST00000679618.1:c.*627A= ENSP00000506274.1:n.*627A=
ENST00000679630.1:n.5388A=
ENST00000679686.1:n.3653A=
ENST00000679701.1:n.6531A=
ENST00000679916.1:c.3539A= ENSP00000506172.1:p.Gln1180=
ENST00000680000.1:c.3539A= ENSP00000506173.1:p.Gln1180=
ENST00000680135.1:c.*1503A= ENSP00000506211.1:n.*1503A=
ENST00000680149.1:c.3539A= ENSP00000506497.1:p.Gln1180=
ENST00000680163.1:c.3539A= ENSP00000505092.1:p.Gln1180=
ENST00000680174.1:n.4230A=
ENST00000680236.1:c.*600A= ENSP00000506212.1:n.*600A=
ENST00000680497.1:c.3641A= ENSP00000505954.1:p.Gln1214=
ENST00000680508.1:c.3539A= ENSP00000505749.1:p.Gln1180=
ENST00000680569.1:c.*1250A= ENSP00000505522.1:n.*1250A=
ENST00000680630.1:n.3971A=
ENST00000680634.1:n.21-2926A=
ENST00000680722.1:n.1339A=
ENST00000680723.1:n.4322A=
ENST00000680726.1:c.3539A= ENSP00000505505.1:p.Gln1180=
ENST00000680737.1:n.3810A=
ENST00000680759.1:c.3539A= ENSP00000505848.1:p.Gln1180=
ENST00000680814.1:c.3539A= ENSP00000505710.1:p.Gln1180=
ENST00000680828.1:c.*1111A= ENSP00000505249.1:n.*1111A=
ENST00000680861.1:c.3539A= ENSP00000505043.1:p.Gln1180=
ENST00000680927.1:c.3539A= ENSP00000505473.1:p.Gln1180=
ENST00000680939.1:n.3881A=
ENST00000681152.1:c.3539A= ENSP00000505388.1:p.Gln1180=
ENST00000681250.1:c.*256A= ENSP00000505684.1:n.*256A=
ENST00000681256.1:c.*1557A= ENSP00000505446.1:n.*1557A=
ENST00000681279.1:n.4307A=
ENST00000681303.1:c.3539A= ENSP00000505576.1:p.Gln1180=
ENST00000681307.1:n.4652A=
ENST00000681461.1:n.4307A=
ENST00000681495.1:c.1079A= ENSP00000506085.1:p.Gln360=
ENST00000681558.1:c.1217A= ENSP00000505568.1:p.Gln406=
ENST00000681619.1:c.3539A= ENSP00000505071.1:p.Gln1180=
ENST00000681716.1:c.*1250A= ENSP00000505078.1:n.*1250A=
ENST00000681758.1:n.3881A=
ENST00000681768.1:c.*1203A= ENSP00000506311.1:n.*1203A=
ENST00000681808.1:c.3539A= ENSP00000505219.1:p.Gln1180=
ENST00000264276.10:c.3539A= ENSP00000264276.6:p.Gln1180=
ENST00000439495.5:c.1500A=
ENST00000482891.5:n.3679A=
ENST00000489440.5:n.360A=
NM_020919.3:c.3539A= NP_065970.2:p.Gln1180=
XM_005246709.2:c.3539A= XP_005246766.1:p.Gln1180=
XM_006712654.1:c.3539A= XP_006712717.1:p.Gln1180=
XM_006712655.2:c.1475A= XP_006712718.1:p.Gln492=
XM_011511530.1:c.3200A= XP_011509832.1:p.Gln1067=
XM_011511531.1:c.3539A= XP_011509833.1:p.Gln1180=
XR_922974.1:n.3674A=
XM_006712654.3:c.3539A= XP_006712717.1:p.Gln1180=
XM_006712655.3:c.1475A= XP_006712718.1:p.Gln492=
XM_017004569.2:c.3539A= XP_016860058.1:p.Gln1180=
XM_017004570.2:c.3539A= XP_016860059.1:p.Gln1180=
XM_017004572.2:c.1157A= XP_016860061.1:p.Gln386=
XM_024453024.1:c.3200A= XP_024308792.1:p.Gln1067=
XM_024453025.1:c.1475A= XP_024308793.1:p.Gln492=
XR_001738864.2:n.3674A=
XR_001738865.2:n.3674A=
XR_001738866.2:n.3674A=
XR_001738867.2:n.3674A=
XR_002959320.1:n.2730A=
NM_020919.4:c.3539A= MANE Select NP_065970.2:p.Gln1180=