Canonical Allele Identifier: CA350320499
Gene: ALS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704211T>G , CM000664.2:g.201704211T>G GRCh38
NC_000002.11:g.202568934T>G , CM000664.1:g.202568934T>G GRCh37
NC_000002.10:g.202277179T>G NCBI36
NG_008775.1:g.81962A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4846A>C MANE Select ENSP00000264276.6:p.Asn1616His
ENST00000439495.6:c.*1026A>C ENSP00000403832.2:n.*1026A>C
ENST00000679409.1:c.*1551A>C ENSP00000506531.1:n.*1551A>C
ENST00000679416.1:n.6350A>C
ENST00000679427.1:n.2517A>C
ENST00000679435.1:c.4846A>C ENSP00000505218.1:p.Asn1616His
ENST00000679516.1:c.4846A>C ENSP00000505187.1:p.Asn1616His
ENST00000679618.1:c.*1934A>C ENSP00000506274.1:n.*1934A>C
ENST00000679630.1:n.6695A>C
ENST00000679635.1:n.3108A>C
ENST00000679686.1:n.4960A>C
ENST00000679701.1:n.7838A>C
ENST00000679916.1:c.*1194A>C ENSP00000506172.1:n.*1194A>C
ENST00000680000.1:c.4846A>C ENSP00000506173.1:p.Asn1616His
ENST00000680135.1:c.*2807A>C ENSP00000506211.1:n.*2807A>C
ENST00000680149.1:c.*128A>C ENSP00000506497.1:n.*128A>C
ENST00000680163.1:c.4846A>C ENSP00000505092.1:p.Asn1616His
ENST00000680174.1:n.5537A>C
ENST00000680236.1:c.*1907A>C ENSP00000506212.1:n.*1907A>C
ENST00000680404.1:n.361A>C
ENST00000680441.1:n.3404A>C
ENST00000680497.1:c.4948A>C ENSP00000505954.1:p.Asn1650His
ENST00000680508.1:c.*2A>C ENSP00000505749.1:n.*2A>C
ENST00000680569.1:c.*2789A>C ENSP00000505522.1:n.*2789A>C
ENST00000680634.1:n.1354A>C
ENST00000680722.1:n.2646A>C
ENST00000680726.1:c.*128A>C ENSP00000505505.1:n.*128A>C
ENST00000680759.1:c.4678A>C ENSP00000505848.1:p.Asn1560His
ENST00000680814.1:c.4838+243A>C ENSP00000505710.1:n.4838+243A>C
ENST00000680828.1:c.*2540A>C ENSP00000505249.1:n.*2540A>C
ENST00000680861.1:c.4846A>C ENSP00000505043.1:p.Asn1616His
ENST00000680927.1:c.*1026A>C ENSP00000505473.1:n.*1026A>C
ENST00000680939.1:n.6787A>C
ENST00000681250.1:c.*1563A>C ENSP00000505684.1:n.*1563A>C
ENST00000681256.1:c.*2861A>C ENSP00000505446.1:n.*2861A>C
ENST00000681279.1:n.5712A>C
ENST00000681307.1:n.5959A>C
ENST00000681461.1:n.5614A>C
ENST00000681495.1:c.2383A>C ENSP00000506085.1:p.Asn795His
ENST00000681558.1:c.2524A>C ENSP00000505568.1:p.Asn842His
ENST00000681619.1:c.4843A>C ENSP00000505071.1:p.Asn1615His
ENST00000681663.1:n.1752A>C
ENST00000681692.1:n.2806A>C
ENST00000681716.1:c.*2700A>C ENSP00000505078.1:n.*2700A>C
ENST00000681768.1:c.*2510A>C ENSP00000506311.1:n.*2510A>C
ENST00000681808.1:c.4669A>C ENSP00000505219.1:p.Asn1557His
ENST00000264276.10:c.4846A>C ENSP00000264276.6:p.Asn1616His
ENST00000439495.5:c.2950A>C
NM_020919.3:c.4846A>C NP_065970.2:p.Asn1616His
XM_005246709.2:c.4843A>C XP_005246766.1:p.Asn1615His
XM_006712654.1:c.4846A>C XP_006712717.1:p.Asn1616His
XM_006712655.2:c.2782A>C XP_006712718.1:p.Asn928His
XM_011511530.1:c.4507A>C XP_011509832.1:p.Asn1503His
XR_922974.1:n.5124A>C
XM_006712654.3:c.4846A>C XP_006712717.1:p.Asn1616His
XM_006712655.3:c.2782A>C XP_006712718.1:p.Asn928His
XM_017004569.2:c.4843A>C XP_016860058.1:p.Asn1615His
XM_017004572.2:c.2464A>C XP_016860061.1:p.Asn822His
XM_024453024.1:c.4507A>C XP_024308792.1:p.Asn1503His
XM_024453025.1:c.2779A>C XP_024308793.1:p.Asn927His
XR_001738864.2:n.4961A>C
XR_001738865.2:n.4958A>C
XR_001738866.2:n.5124A>C
XR_001738867.2:n.5121A>C
XR_002959320.1:n.4017A>C
NM_020919.4:c.4846A>C MANE Select NP_065970.2:p.Asn1616His