Canonical Allele Identifier: CA2057670
Community Standard Title: NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201710994T>C , CM000664.2:g.201710994T>C GRCh38
NC_000002.11:g.202575717T>C , CM000664.1:g.202575717T>C GRCh37
NC_000002.10:g.202283962T>C NCBI36
NG_008775.1:g.75179A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.4119A>G MANE Select NP_065970.2:p.Ile1373Met
ENST00000264276.11:c.4119A>G MANE Select ENSP00000264276.6:p.Ile1373Met
NM_020919.3:c.4119A>G NP_065970.2:p.Ile1373Met
ENST00000264276.10:c.4119A>G ENSP00000264276.6:p.Ile1373Met
ENST00000439495.5:c.2223A>G
ENST00000439495.6:c.*299A>G ENSP00000403832.2:n.*299A>G
ENST00000679409.1:c.*589A>G ENSP00000506531.1:n.*589A>G
ENST00000679416.1:n.5623A>G
ENST00000679427.1:n.1555A>G
ENST00000679435.1:c.4119A>G ENSP00000505218.1:p.Ile1373Met
ENST00000679516.1:c.4119A>G ENSP00000505187.1:p.Ile1373Met
ENST00000679618.1:c.*1207A>G ENSP00000506274.1:n.*1207A>G
ENST00000679630.1:n.5968A>G
ENST00000679635.1:n.2146A>G
ENST00000679686.1:n.4233A>G
ENST00000679701.1:n.7111A>G
ENST00000679916.1:c.*467A>G ENSP00000506172.1:n.*467A>G
ENST00000680000.1:c.4119A>G ENSP00000506173.1:p.Ile1373Met
ENST00000680135.1:c.*2080A>G ENSP00000506211.1:n.*2080A>G
ENST00000680149.1:c.4116A>G ENSP00000506497.1:p.Ile1372Met
ENST00000680163.1:c.4119A>G ENSP00000505092.1:p.Ile1373Met
ENST00000680174.1:n.4810A>G
ENST00000680236.1:c.*1180A>G ENSP00000506212.1:n.*1180A>G
ENST00000680441.1:n.2677A>G
ENST00000680497.1:c.4221A>G ENSP00000505954.1:p.Ile1407Met
ENST00000680508.1:c.4116A>G ENSP00000505749.1:p.Ile1372Met
ENST00000680569.1:c.*1827A>G ENSP00000505522.1:n.*1827A>G
ENST00000680634.1:n.627A>G
ENST00000680722.1:n.1919A>G
ENST00000680726.1:c.4119A>G ENSP00000505505.1:p.Ile1373Met
ENST00000680759.1:c.3951A>G ENSP00000505848.1:p.Ile1317Met
ENST00000680814.1:c.4119A>G ENSP00000505710.1:p.Ile1373Met
ENST00000680828.1:c.*1813A>G ENSP00000505249.1:n.*1813A>G
ENST00000680861.1:c.4119A>G ENSP00000505043.1:p.Ile1373Met
ENST00000680927.1:c.*299A>G ENSP00000505473.1:n.*299A>G
ENST00000680939.1:n.4461A>G
ENST00000681250.1:c.*836A>G ENSP00000505684.1:n.*836A>G
ENST00000681256.1:c.*2134A>G ENSP00000505446.1:n.*2134A>G
ENST00000681279.1:n.4985A>G
ENST00000681307.1:n.5232A>G
ENST00000681461.1:n.4887A>G
ENST00000681495.1:c.1656A>G ENSP00000506085.1:p.Ile552Met
ENST00000681558.1:c.1797A>G ENSP00000505568.1:p.Ile599Met
ENST00000681619.1:c.4116A>G ENSP00000505071.1:p.Ile1372Met
ENST00000681663.1:n.1025A>G
ENST00000681692.1:n.2079A>G
ENST00000681716.1:c.*1973A>G ENSP00000505078.1:n.*1973A>G
ENST00000681768.1:c.*1783A>G ENSP00000506311.1:n.*1783A>G
ENST00000681808.1:c.4119A>G ENSP00000505219.1:p.Ile1373Met
XM_005246709.2:c.4116A>G XP_005246766.1:p.Ile1372Met
XM_006712654.1:c.4119A>G XP_006712717.1:p.Ile1373Met
XM_006712654.3:c.4119A>G XP_006712717.1:p.Ile1373Met
XM_006712655.2:c.2055A>G XP_006712718.1:p.Ile685Met
XM_006712655.3:c.2055A>G XP_006712718.1:p.Ile685Met
XM_011511530.1:c.3780A>G XP_011509832.1:p.Ile1260Met
XM_017004569.2:c.4116A>G XP_016860058.1:p.Ile1372Met
XM_017004572.2:c.1737A>G XP_016860061.1:p.Ile579Met
XM_024453024.1:c.3780A>G XP_024308792.1:p.Ile1260Met
XM_024453025.1:c.2052A>G XP_024308793.1:p.Ile684Met
XR_001738864.2:n.4254A>G
XR_001738865.2:n.4251A>G
XR_001738866.2:n.4397A>G
XR_001738867.2:n.4394A>G
XR_002959320.1:n.3310A>G
XR_922974.1:n.4397A>G