Canonical Allele Identifier: CA11343801
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201715545T>C , CM000664.2:g.201715545T>C GRCh38
NC_000002.11:g.202580268T>C , CM000664.1:g.202580268T>C GRCh37
NC_000002.10:g.202288513T>C NCBI36
NG_008775.1:g.70628A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.4004+127A>G MANE Select NP_065970.2:n.4004+127A>G
ENST00000264276.11:c.4004+127A>G MANE Select ENSP00000264276.6:n.4004+127A>G
NM_020919.3:c.4004+127A>G NP_065970.2:n.4004+127A>G
ENST00000264276.10:c.4004+127A>G ENSP00000264276.6:n.4004+127A>G
ENST00000439495.5:c.2108+127A>G
ENST00000439495.6:c.*184+127A>G ENSP00000403832.2:n.*184+127A>G
ENST00000679409.1:c.*474+127A>G ENSP00000506531.1:n.*474+127A>G
ENST00000679416.1:n.5508+127A>G
ENST00000679435.1:c.4004+127A>G ENSP00000505218.1:n.4004+127A>G
ENST00000679516.1:c.4004+127A>G ENSP00000505187.1:n.4004+127A>G
ENST00000679618.1:c.*1092+127A>G ENSP00000506274.1:n.*1092+127A>G
ENST00000679630.1:n.5853+127A>G
ENST00000679686.1:n.4118+127A>G
ENST00000679701.1:n.6996+127A>G
ENST00000679916.1:c.*352+127A>G ENSP00000506172.1:n.*352+127A>G
ENST00000680000.1:c.4004+127A>G ENSP00000506173.1:n.4004+127A>G
ENST00000680135.1:c.*1965+127A>G ENSP00000506211.1:n.*1965+127A>G
ENST00000680149.1:c.4001+127A>G ENSP00000506497.1:n.4001+127A>G
ENST00000680163.1:c.4004+127A>G ENSP00000505092.1:n.4004+127A>G
ENST00000680174.1:n.4695+127A>G
ENST00000680236.1:c.*1065+127A>G ENSP00000506212.1:n.*1065+127A>G
ENST00000680441.1:n.2562+127A>G
ENST00000680497.1:c.4106+127A>G ENSP00000505954.1:n.4106+127A>G
ENST00000680508.1:c.4001+127A>G ENSP00000505749.1:n.4001+127A>G
ENST00000680569.1:c.*1712+127A>G ENSP00000505522.1:n.*1712+127A>G
ENST00000680630.1:n.4436+127A>G
ENST00000680634.1:n.512+127A>G
ENST00000680722.1:n.1804+127A>G
ENST00000680726.1:c.4004+127A>G ENSP00000505505.1:n.4004+127A>G
ENST00000680737.1:n.4275+127A>G
ENST00000680759.1:c.3836+2532A>G ENSP00000505848.1:n.3836+2532A>G
ENST00000680814.1:c.4004+127A>G ENSP00000505710.1:n.4004+127A>G
ENST00000680828.1:c.*1698+127A>G ENSP00000505249.1:n.*1698+127A>G
ENST00000680861.1:c.4004+127A>G ENSP00000505043.1:n.4004+127A>G
ENST00000680927.1:c.*184+127A>G ENSP00000505473.1:n.*184+127A>G
ENST00000680939.1:n.4346+127A>G
ENST00000681250.1:c.*721+127A>G ENSP00000505684.1:n.*721+127A>G
ENST00000681256.1:c.*2019+127A>G ENSP00000505446.1:n.*2019+127A>G
ENST00000681279.1:n.4870+127A>G
ENST00000681307.1:n.5117+127A>G
ENST00000681461.1:n.4772+127A>G
ENST00000681495.1:c.1541+127A>G ENSP00000506085.1:n.1541+127A>G
ENST00000681558.1:c.1682+127A>G ENSP00000505568.1:n.1682+127A>G
ENST00000681619.1:c.4001+127A>G ENSP00000505071.1:n.4001+127A>G
ENST00000681663.1:n.910+127A>G
ENST00000681716.1:c.*1858+127A>G ENSP00000505078.1:n.*1858+127A>G
ENST00000681758.1:n.4346+127A>G
ENST00000681768.1:c.*1668+127A>G ENSP00000506311.1:n.*1668+127A>G
ENST00000681808.1:c.4004+127A>G ENSP00000505219.1:n.4004+127A>G
XM_005246709.2:c.4001+127A>G XP_005246766.1:n.4001+127A>G
XM_006712654.1:c.4004+127A>G XP_006712717.1:n.4004+127A>G
XM_006712654.3:c.4004+127A>G XP_006712717.1:n.4004+127A>G
XM_006712655.2:c.1940+127A>G XP_006712718.1:n.1940+127A>G
XM_006712655.3:c.1940+127A>G XP_006712718.1:n.1940+127A>G
XM_011511530.1:c.3665+127A>G XP_011509832.1:n.3665+127A>G
XM_011511531.1:c.4004+127A>G XP_011509833.1:n.4004+127A>G
XM_017004569.2:c.4001+127A>G XP_016860058.1:n.4001+127A>G
XM_017004570.2:c.4004+127A>G XP_016860059.1:n.4004+127A>G
XM_017004572.2:c.1622+127A>G XP_016860061.1:n.1622+127A>G
XM_024453024.1:c.3665+127A>G XP_024308792.1:n.3665+127A>G
XM_024453025.1:c.1937+127A>G XP_024308793.1:n.1937+127A>G
XR_001738864.2:n.4139+127A>G
XR_001738865.2:n.4136+127A>G
XR_001738866.2:n.4282+127A>G
XR_001738867.2:n.4279+127A>G
XR_002959320.1:n.3195+127A>G
XR_922974.1:n.4282+127A>G