Canonical Allele Identifier: CA350320337
Gene: ALS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704163G>C , CM000664.2:g.201704163G>C GRCh38
NC_000002.11:g.202568886G>C , CM000664.1:g.202568886G>C GRCh37
NC_000002.10:g.202277131G>C NCBI36
NG_008775.1:g.82010C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4894C>G MANE Select ENSP00000264276.6:p.Leu1632Val
ENST00000439495.6:c.*1074C>G ENSP00000403832.2:n.*1074C>G
ENST00000679409.1:c.*1599C>G ENSP00000506531.1:n.*1599C>G
ENST00000679416.1:n.6398C>G
ENST00000679427.1:n.2565C>G
ENST00000679435.1:c.4894C>G ENSP00000505218.1:p.Leu1632Val
ENST00000679516.1:c.4894C>G ENSP00000505187.1:p.Leu1632Val
ENST00000679618.1:c.*1982C>G ENSP00000506274.1:n.*1982C>G
ENST00000679630.1:n.6743C>G
ENST00000679635.1:n.3156C>G
ENST00000679686.1:n.5008C>G
ENST00000679701.1:n.7886C>G
ENST00000679916.1:c.*1242C>G ENSP00000506172.1:n.*1242C>G
ENST00000680000.1:c.4894C>G ENSP00000506173.1:p.Leu1632Val
ENST00000680135.1:c.*2855C>G ENSP00000506211.1:n.*2855C>G
ENST00000680149.1:c.*176C>G ENSP00000506497.1:n.*176C>G
ENST00000680163.1:c.4894C>G ENSP00000505092.1:p.Leu1632Val
ENST00000680174.1:n.5585C>G
ENST00000680236.1:c.*1955C>G ENSP00000506212.1:n.*1955C>G
ENST00000680404.1:n.409C>G
ENST00000680441.1:n.3452C>G
ENST00000680497.1:c.4996C>G ENSP00000505954.1:p.Leu1666Val
ENST00000680508.1:c.*50C>G ENSP00000505749.1:n.*50C>G
ENST00000680569.1:c.*2837C>G ENSP00000505522.1:n.*2837C>G
ENST00000680634.1:n.1402C>G
ENST00000680722.1:n.2694C>G
ENST00000680726.1:c.*176C>G ENSP00000505505.1:n.*176C>G
ENST00000680759.1:c.4726C>G ENSP00000505848.1:p.Leu1576Val
ENST00000680814.1:c.4838+291C>G ENSP00000505710.1:n.4838+291C>G
ENST00000680828.1:c.*2588C>G ENSP00000505249.1:n.*2588C>G
ENST00000680861.1:c.4894C>G ENSP00000505043.1:p.Leu1632Val
ENST00000680927.1:c.*1074C>G ENSP00000505473.1:n.*1074C>G
ENST00000680939.1:n.6835C>G
ENST00000681250.1:c.*1611C>G ENSP00000505684.1:n.*1611C>G
ENST00000681256.1:c.*2909C>G ENSP00000505446.1:n.*2909C>G
ENST00000681279.1:n.5760C>G
ENST00000681307.1:n.6007C>G
ENST00000681461.1:n.5662C>G
ENST00000681495.1:c.2431C>G ENSP00000506085.1:p.Leu811Val
ENST00000681558.1:c.2572C>G ENSP00000505568.1:p.Leu858Val
ENST00000681619.1:c.4891C>G ENSP00000505071.1:p.Leu1631Val
ENST00000681663.1:n.1800C>G
ENST00000681692.1:n.2854C>G
ENST00000681716.1:c.*2748C>G ENSP00000505078.1:n.*2748C>G
ENST00000681768.1:c.*2558C>G ENSP00000506311.1:n.*2558C>G
ENST00000681808.1:c.4717C>G ENSP00000505219.1:p.Leu1573Val
ENST00000264276.10:c.4894C>G ENSP00000264276.6:p.Leu1632Val
ENST00000439495.5:c.2998C>G
NM_020919.3:c.4894C>G NP_065970.2:p.Leu1632Val
XM_005246709.2:c.4891C>G XP_005246766.1:p.Leu1631Val
XM_006712654.1:c.4894C>G XP_006712717.1:p.Leu1632Val
XM_006712655.2:c.2830C>G XP_006712718.1:p.Leu944Val
XM_011511530.1:c.4555C>G XP_011509832.1:p.Leu1519Val
XR_922974.1:n.5172C>G
XM_006712654.3:c.4894C>G XP_006712717.1:p.Leu1632Val
XM_006712655.3:c.2830C>G XP_006712718.1:p.Leu944Val
XM_017004569.2:c.4891C>G XP_016860058.1:p.Leu1631Val
XM_017004572.2:c.2512C>G XP_016860061.1:p.Leu838Val
XM_024453024.1:c.4555C>G XP_024308792.1:p.Leu1519Val
XM_024453025.1:c.2827C>G XP_024308793.1:p.Leu943Val
XR_001738864.2:n.5009C>G
XR_001738865.2:n.5006C>G
XR_001738866.2:n.5172C>G
XR_001738867.2:n.5169C>G
XR_002959320.1:n.4065C>G
NM_020919.4:c.4894C>G MANE Select NP_065970.2:p.Leu1632Val