Canonical Allele Identifier: CA350320427
Gene: ALS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704189A>T , CM000664.2:g.201704189A>T GRCh38
NC_000002.11:g.202568912A>T , CM000664.1:g.202568912A>T GRCh37
NC_000002.10:g.202277157A>T NCBI36
NG_008775.1:g.81984T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4868T>A MANE Select ENSP00000264276.6:p.Leu1623His
ENST00000439495.6:c.*1048T>A ENSP00000403832.2:n.*1048T>A
ENST00000679409.1:c.*1573T>A ENSP00000506531.1:n.*1573T>A
ENST00000679416.1:n.6372T>A
ENST00000679427.1:n.2539T>A
ENST00000679435.1:c.4868T>A ENSP00000505218.1:p.Leu1623His
ENST00000679516.1:c.4868T>A ENSP00000505187.1:p.Leu1623His
ENST00000679618.1:c.*1956T>A ENSP00000506274.1:n.*1956T>A
ENST00000679630.1:n.6717T>A
ENST00000679635.1:n.3130T>A
ENST00000679686.1:n.4982T>A
ENST00000679701.1:n.7860T>A
ENST00000679916.1:c.*1216T>A ENSP00000506172.1:n.*1216T>A
ENST00000680000.1:c.4868T>A ENSP00000506173.1:p.Leu1623His
ENST00000680135.1:c.*2829T>A ENSP00000506211.1:n.*2829T>A
ENST00000680149.1:c.*150T>A ENSP00000506497.1:n.*150T>A
ENST00000680163.1:c.4868T>A ENSP00000505092.1:p.Leu1623His
ENST00000680174.1:n.5559T>A
ENST00000680236.1:c.*1929T>A ENSP00000506212.1:n.*1929T>A
ENST00000680404.1:n.383T>A
ENST00000680441.1:n.3426T>A
ENST00000680497.1:c.4970T>A ENSP00000505954.1:p.Leu1657His
ENST00000680508.1:c.*24T>A ENSP00000505749.1:n.*24T>A
ENST00000680569.1:c.*2811T>A ENSP00000505522.1:n.*2811T>A
ENST00000680634.1:n.1376T>A
ENST00000680722.1:n.2668T>A
ENST00000680726.1:c.*150T>A ENSP00000505505.1:n.*150T>A
ENST00000680759.1:c.4700T>A ENSP00000505848.1:p.Leu1567His
ENST00000680814.1:c.4838+265T>A ENSP00000505710.1:n.4838+265T>A
ENST00000680828.1:c.*2562T>A ENSP00000505249.1:n.*2562T>A
ENST00000680861.1:c.4868T>A ENSP00000505043.1:p.Leu1623His
ENST00000680927.1:c.*1048T>A ENSP00000505473.1:n.*1048T>A
ENST00000680939.1:n.6809T>A
ENST00000681250.1:c.*1585T>A ENSP00000505684.1:n.*1585T>A
ENST00000681256.1:c.*2883T>A ENSP00000505446.1:n.*2883T>A
ENST00000681279.1:n.5734T>A
ENST00000681307.1:n.5981T>A
ENST00000681461.1:n.5636T>A
ENST00000681495.1:c.2405T>A ENSP00000506085.1:p.Leu802His
ENST00000681558.1:c.2546T>A ENSP00000505568.1:p.Leu849His
ENST00000681619.1:c.4865T>A ENSP00000505071.1:p.Leu1622His
ENST00000681663.1:n.1774T>A
ENST00000681692.1:n.2828T>A
ENST00000681716.1:c.*2722T>A ENSP00000505078.1:n.*2722T>A
ENST00000681768.1:c.*2532T>A ENSP00000506311.1:n.*2532T>A
ENST00000681808.1:c.4691T>A ENSP00000505219.1:p.Leu1564His
ENST00000264276.10:c.4868T>A ENSP00000264276.6:p.Leu1623His
ENST00000439495.5:c.2972T>A
NM_020919.3:c.4868T>A NP_065970.2:p.Leu1623His
XM_005246709.2:c.4865T>A XP_005246766.1:p.Leu1622His
XM_006712654.1:c.4868T>A XP_006712717.1:p.Leu1623His
XM_006712655.2:c.2804T>A XP_006712718.1:p.Leu935His
XM_011511530.1:c.4529T>A XP_011509832.1:p.Leu1510His
XR_922974.1:n.5146T>A
XM_006712654.3:c.4868T>A XP_006712717.1:p.Leu1623His
XM_006712655.3:c.2804T>A XP_006712718.1:p.Leu935His
XM_017004569.2:c.4865T>A XP_016860058.1:p.Leu1622His
XM_017004572.2:c.2486T>A XP_016860061.1:p.Leu829His
XM_024453024.1:c.4529T>A XP_024308792.1:p.Leu1510His
XM_024453025.1:c.2801T>A XP_024308793.1:p.Leu934His
XR_001738864.2:n.4983T>A
XR_001738865.2:n.4980T>A
XR_001738866.2:n.5146T>A
XR_001738867.2:n.5143T>A
XR_002959320.1:n.4039T>A
NM_020919.4:c.4868T>A MANE Select NP_065970.2:p.Leu1623His