Canonical Allele Identifier: CA1321181775
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201723332T= , CM000664.2:g.201723332T= GRCh38
NC_000002.11:g.202588055T= , CM000664.1:g.202588055T= GRCh37
NC_000002.10:g.202296300T= NCBI36
NG_008775.1:g.62841A=

Transcript Alleles

HGVS Amino-acid change
ENST00000264276.11:c.3622A= MANE Select ENSP00000264276.6:p.Met1208=
ENST00000439495.6:c.1300A= ENSP00000403832.2:p.Met434=
ENST00000482891.6:n.4390A=
ENST00000494017.6:n.1354A=
ENST00000679409.1:c.1300A= ENSP00000506531.1:p.Met434=
ENST00000679416.1:n.5126A=
ENST00000679435.1:c.3622A= ENSP00000505218.1:p.Met1208=
ENST00000679516.1:c.3622A= ENSP00000505187.1:p.Met1208=
ENST00000679618.1:c.*710A= ENSP00000506274.1:n.*710A=
ENST00000679630.1:n.5471A=
ENST00000679686.1:n.3736A=
ENST00000679701.1:n.6614A=
ENST00000679916.1:c.3622A= ENSP00000506172.1:p.Met1208=
ENST00000680000.1:c.3622A= ENSP00000506173.1:p.Met1208=
ENST00000680135.1:c.*1586A= ENSP00000506211.1:n.*1586A=
ENST00000680149.1:c.3622A= ENSP00000506497.1:p.Met1208=
ENST00000680163.1:c.3622A= ENSP00000505092.1:p.Met1208=
ENST00000680174.1:n.4313A=
ENST00000680236.1:c.*683A= ENSP00000506212.1:n.*683A=
ENST00000680497.1:c.3724A= ENSP00000505954.1:p.Met1242=
ENST00000680508.1:c.3622A= ENSP00000505749.1:p.Met1208=
ENST00000680569.1:c.*1333A= ENSP00000505522.1:n.*1333A=
ENST00000680630.1:n.4054A=
ENST00000680634.1:n.21-2843A=
ENST00000680722.1:n.1422A=
ENST00000680723.1:n.4405A=
ENST00000680726.1:c.3622A= ENSP00000505505.1:p.Met1208=
ENST00000680737.1:n.3893A=
ENST00000680759.1:c.3622A= ENSP00000505848.1:p.Met1208=
ENST00000680814.1:c.3622A= ENSP00000505710.1:p.Met1208=
ENST00000680828.1:c.*1194A= ENSP00000505249.1:n.*1194A=
ENST00000680861.1:c.3622A= ENSP00000505043.1:p.Met1208=
ENST00000680927.1:c.3622A= ENSP00000505473.1:p.Met1208=
ENST00000680939.1:n.3964A=
ENST00000681152.1:c.3622A= ENSP00000505388.1:p.Met1208=
ENST00000681250.1:c.*339A= ENSP00000505684.1:n.*339A=
ENST00000681256.1:c.*1640A= ENSP00000505446.1:n.*1640A=
ENST00000681279.1:n.4390A=
ENST00000681303.1:c.3622A= ENSP00000505576.1:p.Met1208=
ENST00000681307.1:n.4735A=
ENST00000681461.1:n.4390A=
ENST00000681495.1:c.1162A= ENSP00000506085.1:p.Met388=
ENST00000681558.1:c.1300A= ENSP00000505568.1:p.Met434=
ENST00000681619.1:c.3622A= ENSP00000505071.1:p.Met1208=
ENST00000681716.1:c.*1333A= ENSP00000505078.1:n.*1333A=
ENST00000681758.1:n.3964A=
ENST00000681768.1:c.*1286A= ENSP00000506311.1:n.*1286A=
ENST00000681808.1:c.3622A= ENSP00000505219.1:p.Met1208=
ENST00000264276.10:c.3622A= ENSP00000264276.6:p.Met1208=
ENST00000439495.5:c.1583A=
ENST00000482891.5:n.3762A=
ENST00000489440.5:n.443A=
NM_020919.3:c.3622A= NP_065970.2:p.Met1208=
XM_005246709.2:c.3622A= XP_005246766.1:p.Met1208=
XM_006712654.1:c.3622A= XP_006712717.1:p.Met1208=
XM_006712655.2:c.1558A= XP_006712718.1:p.Met520=
XM_011511530.1:c.3283A= XP_011509832.1:p.Met1095=
XM_011511531.1:c.3622A= XP_011509833.1:p.Met1208=
XR_922974.1:n.3757A=
XM_006712654.3:c.3622A= XP_006712717.1:p.Met1208=
XM_006712655.3:c.1558A= XP_006712718.1:p.Met520=
XM_017004569.2:c.3622A= XP_016860058.1:p.Met1208=
XM_017004570.2:c.3622A= XP_016860059.1:p.Met1208=
XM_017004572.2:c.1240A= XP_016860061.1:p.Met414=
XM_024453024.1:c.3283A= XP_024308792.1:p.Met1095=
XM_024453025.1:c.1558A= XP_024308793.1:p.Met520=
XR_001738864.2:n.3757A=
XR_001738865.2:n.3757A=
XR_001738866.2:n.3757A=
XR_001738867.2:n.3757A=
XR_002959320.1:n.2813A=
NM_020919.4:c.3622A= MANE Select NP_065970.2:p.Met1208=