Canonical Allele Identifier: CA350320433

Gene: ALS2

Linked Data

• gnomAD v4: 2-201704192-T-A
• MyVariant Identifiers: chr2:g.202568915T>A (hg19) ; chr2:g.201704192T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704192T>A , CM000664.2:g.201704192T>A	GRCh38
NC_000002.11:g.202568915T>A , CM000664.1:g.202568915T>A	GRCh37
NC_000002.10:g.202277160T>A	NCBI36
NG_008775.1:g.81981A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4865A>T MANE Select	ENSP00000264276.6:p.His1622Leu
ENST00000439495.6:c.*1045A>T	ENSP00000403832.2:n.*1045A>T
ENST00000679409.1:c.*1570A>T	ENSP00000506531.1:n.*1570A>T
ENST00000679416.1:n.6369A>T
ENST00000679427.1:n.2536A>T
ENST00000679435.1:c.4865A>T	ENSP00000505218.1:p.His1622Leu
ENST00000679516.1:c.4865A>T	ENSP00000505187.1:p.His1622Leu
ENST00000679618.1:c.*1953A>T	ENSP00000506274.1:n.*1953A>T
ENST00000679630.1:n.6714A>T
ENST00000679635.1:n.3127A>T
ENST00000679686.1:n.4979A>T
ENST00000679701.1:n.7857A>T
ENST00000679916.1:c.*1213A>T	ENSP00000506172.1:n.*1213A>T
ENST00000680000.1:c.4865A>T	ENSP00000506173.1:p.His1622Leu
ENST00000680135.1:c.*2826A>T	ENSP00000506211.1:n.*2826A>T
ENST00000680149.1:c.*147A>T	ENSP00000506497.1:n.*147A>T
ENST00000680163.1:c.4865A>T	ENSP00000505092.1:p.His1622Leu
ENST00000680174.1:n.5556A>T
ENST00000680236.1:c.*1926A>T	ENSP00000506212.1:n.*1926A>T
ENST00000680404.1:n.380A>T
ENST00000680441.1:n.3423A>T
ENST00000680497.1:c.4967A>T	ENSP00000505954.1:p.His1656Leu
ENST00000680508.1:c.*21A>T	ENSP00000505749.1:n.*21A>T
ENST00000680569.1:c.*2808A>T	ENSP00000505522.1:n.*2808A>T
ENST00000680634.1:n.1373A>T
ENST00000680722.1:n.2665A>T
ENST00000680726.1:c.*147A>T	ENSP00000505505.1:n.*147A>T
ENST00000680759.1:c.4697A>T	ENSP00000505848.1:p.His1566Leu
ENST00000680814.1:c.4838+262A>T	ENSP00000505710.1:n.4838+262A>T
ENST00000680828.1:c.*2559A>T	ENSP00000505249.1:n.*2559A>T
ENST00000680861.1:c.4865A>T	ENSP00000505043.1:p.His1622Leu
ENST00000680927.1:c.*1045A>T	ENSP00000505473.1:n.*1045A>T
ENST00000680939.1:n.6806A>T
ENST00000681250.1:c.*1582A>T	ENSP00000505684.1:n.*1582A>T
ENST00000681256.1:c.*2880A>T	ENSP00000505446.1:n.*2880A>T
ENST00000681279.1:n.5731A>T
ENST00000681307.1:n.5978A>T
ENST00000681461.1:n.5633A>T
ENST00000681495.1:c.2402A>T	ENSP00000506085.1:p.His801Leu
ENST00000681558.1:c.2543A>T	ENSP00000505568.1:p.His848Leu
ENST00000681619.1:c.4862A>T	ENSP00000505071.1:p.His1621Leu
ENST00000681663.1:n.1771A>T
ENST00000681692.1:n.2825A>T
ENST00000681716.1:c.*2719A>T	ENSP00000505078.1:n.*2719A>T
ENST00000681768.1:c.*2529A>T	ENSP00000506311.1:n.*2529A>T
ENST00000681808.1:c.4688A>T	ENSP00000505219.1:p.His1563Leu
ENST00000264276.10:c.4865A>T	ENSP00000264276.6:p.His1622Leu
ENST00000439495.5:c.2969A>T
NM_020919.3:c.4865A>T	NP_065970.2:p.His1622Leu
XM_005246709.2:c.4862A>T	XP_005246766.1:p.His1621Leu
XM_006712654.1:c.4865A>T	XP_006712717.1:p.His1622Leu
XM_006712655.2:c.2801A>T	XP_006712718.1:p.His934Leu
XM_011511530.1:c.4526A>T	XP_011509832.1:p.His1509Leu
XR_922974.1:n.5143A>T
XM_006712654.3:c.4865A>T	XP_006712717.1:p.His1622Leu
XM_006712655.3:c.2801A>T	XP_006712718.1:p.His934Leu
XM_017004569.2:c.4862A>T	XP_016860058.1:p.His1621Leu
XM_017004572.2:c.2483A>T	XP_016860061.1:p.His828Leu
XM_024453024.1:c.4526A>T	XP_024308792.1:p.His1509Leu
XM_024453025.1:c.2798A>T	XP_024308793.1:p.His933Leu
XR_001738864.2:n.4980A>T
XR_001738865.2:n.4977A>T
XR_001738866.2:n.5143A>T
XR_001738867.2:n.5140A>T
XR_002959320.1:n.4036A>T
NM_020919.4:c.4865A>T MANE Select	NP_065970.2:p.His1622Leu