Canonical Allele Identifier: CA350320397
Gene: ALS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704175T>G , CM000664.2:g.201704175T>G GRCh38
NC_000002.11:g.202568898T>G , CM000664.1:g.202568898T>G GRCh37
NC_000002.10:g.202277143T>G NCBI36
NG_008775.1:g.81998A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4882A>C MANE Select ENSP00000264276.6:p.Met1628Leu
ENST00000439495.6:c.*1062A>C ENSP00000403832.2:n.*1062A>C
ENST00000679409.1:c.*1587A>C ENSP00000506531.1:n.*1587A>C
ENST00000679416.1:n.6386A>C
ENST00000679427.1:n.2553A>C
ENST00000679435.1:c.4882A>C ENSP00000505218.1:p.Met1628Leu
ENST00000679516.1:c.4882A>C ENSP00000505187.1:p.Met1628Leu
ENST00000679618.1:c.*1970A>C ENSP00000506274.1:n.*1970A>C
ENST00000679630.1:n.6731A>C
ENST00000679635.1:n.3144A>C
ENST00000679686.1:n.4996A>C
ENST00000679701.1:n.7874A>C
ENST00000679916.1:c.*1230A>C ENSP00000506172.1:n.*1230A>C
ENST00000680000.1:c.4882A>C ENSP00000506173.1:p.Met1628Leu
ENST00000680135.1:c.*2843A>C ENSP00000506211.1:n.*2843A>C
ENST00000680149.1:c.*164A>C ENSP00000506497.1:n.*164A>C
ENST00000680163.1:c.4882A>C ENSP00000505092.1:p.Met1628Leu
ENST00000680174.1:n.5573A>C
ENST00000680236.1:c.*1943A>C ENSP00000506212.1:n.*1943A>C
ENST00000680404.1:n.397A>C
ENST00000680441.1:n.3440A>C
ENST00000680497.1:c.4984A>C ENSP00000505954.1:p.Met1662Leu
ENST00000680508.1:c.*38A>C ENSP00000505749.1:n.*38A>C
ENST00000680569.1:c.*2825A>C ENSP00000505522.1:n.*2825A>C
ENST00000680634.1:n.1390A>C
ENST00000680722.1:n.2682A>C
ENST00000680726.1:c.*164A>C ENSP00000505505.1:n.*164A>C
ENST00000680759.1:c.4714A>C ENSP00000505848.1:p.Met1572Leu
ENST00000680814.1:c.4838+279A>C ENSP00000505710.1:n.4838+279A>C
ENST00000680828.1:c.*2576A>C ENSP00000505249.1:n.*2576A>C
ENST00000680861.1:c.4882A>C ENSP00000505043.1:p.Met1628Leu
ENST00000680927.1:c.*1062A>C ENSP00000505473.1:n.*1062A>C
ENST00000680939.1:n.6823A>C
ENST00000681250.1:c.*1599A>C ENSP00000505684.1:n.*1599A>C
ENST00000681256.1:c.*2897A>C ENSP00000505446.1:n.*2897A>C
ENST00000681279.1:n.5748A>C
ENST00000681307.1:n.5995A>C
ENST00000681461.1:n.5650A>C
ENST00000681495.1:c.2419A>C ENSP00000506085.1:p.Met807Leu
ENST00000681558.1:c.2560A>C ENSP00000505568.1:p.Met854Leu
ENST00000681619.1:c.4879A>C ENSP00000505071.1:p.Met1627Leu
ENST00000681663.1:n.1788A>C
ENST00000681692.1:n.2842A>C
ENST00000681716.1:c.*2736A>C ENSP00000505078.1:n.*2736A>C
ENST00000681768.1:c.*2546A>C ENSP00000506311.1:n.*2546A>C
ENST00000681808.1:c.4705A>C ENSP00000505219.1:p.Met1569Leu
ENST00000264276.10:c.4882A>C ENSP00000264276.6:p.Met1628Leu
ENST00000439495.5:c.2986A>C
NM_020919.3:c.4882A>C NP_065970.2:p.Met1628Leu
XM_005246709.2:c.4879A>C XP_005246766.1:p.Met1627Leu
XM_006712654.1:c.4882A>C XP_006712717.1:p.Met1628Leu
XM_006712655.2:c.2818A>C XP_006712718.1:p.Met940Leu
XM_011511530.1:c.4543A>C XP_011509832.1:p.Met1515Leu
XR_922974.1:n.5160A>C
XM_006712654.3:c.4882A>C XP_006712717.1:p.Met1628Leu
XM_006712655.3:c.2818A>C XP_006712718.1:p.Met940Leu
XM_017004569.2:c.4879A>C XP_016860058.1:p.Met1627Leu
XM_017004572.2:c.2500A>C XP_016860061.1:p.Met834Leu
XM_024453024.1:c.4543A>C XP_024308792.1:p.Met1515Leu
XM_024453025.1:c.2815A>C XP_024308793.1:p.Met939Leu
XR_001738864.2:n.4997A>C
XR_001738865.2:n.4994A>C
XR_001738866.2:n.5160A>C
XR_001738867.2:n.5157A>C
XR_002959320.1:n.4053A>C
NM_020919.4:c.4882A>C MANE Select NP_065970.2:p.Met1628Leu