Canonical Allele Identifier: CA350320431

Gene: ALS2

Linked Data

• gnomAD v4: 2-201704191-G-T
• MyVariant Identifiers: chr2:g.202568914G>T (hg19) ; chr2:g.201704191G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704191G>T , CM000664.2:g.201704191G>T	GRCh38
NC_000002.11:g.202568914G>T , CM000664.1:g.202568914G>T	GRCh37
NC_000002.10:g.202277159G>T	NCBI36
NG_008775.1:g.81982C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4866C>A MANE Select	ENSP00000264276.6:p.His1622Gln
ENST00000439495.6:c.*1046C>A	ENSP00000403832.2:n.*1046C>A
ENST00000679409.1:c.*1571C>A	ENSP00000506531.1:n.*1571C>A
ENST00000679416.1:n.6370C>A
ENST00000679427.1:n.2537C>A
ENST00000679435.1:c.4866C>A	ENSP00000505218.1:p.His1622Gln
ENST00000679516.1:c.4866C>A	ENSP00000505187.1:p.His1622Gln
ENST00000679618.1:c.*1954C>A	ENSP00000506274.1:n.*1954C>A
ENST00000679630.1:n.6715C>A
ENST00000679635.1:n.3128C>A
ENST00000679686.1:n.4980C>A
ENST00000679701.1:n.7858C>A
ENST00000679916.1:c.*1214C>A	ENSP00000506172.1:n.*1214C>A
ENST00000680000.1:c.4866C>A	ENSP00000506173.1:p.His1622Gln
ENST00000680135.1:c.*2827C>A	ENSP00000506211.1:n.*2827C>A
ENST00000680149.1:c.*148C>A	ENSP00000506497.1:n.*148C>A
ENST00000680163.1:c.4866C>A	ENSP00000505092.1:p.His1622Gln
ENST00000680174.1:n.5557C>A
ENST00000680236.1:c.*1927C>A	ENSP00000506212.1:n.*1927C>A
ENST00000680404.1:n.381C>A
ENST00000680441.1:n.3424C>A
ENST00000680497.1:c.4968C>A	ENSP00000505954.1:p.His1656Gln
ENST00000680508.1:c.*22C>A	ENSP00000505749.1:n.*22C>A
ENST00000680569.1:c.*2809C>A	ENSP00000505522.1:n.*2809C>A
ENST00000680634.1:n.1374C>A
ENST00000680722.1:n.2666C>A
ENST00000680726.1:c.*148C>A	ENSP00000505505.1:n.*148C>A
ENST00000680759.1:c.4698C>A	ENSP00000505848.1:p.His1566Gln
ENST00000680814.1:c.4838+263C>A	ENSP00000505710.1:n.4838+263C>A
ENST00000680828.1:c.*2560C>A	ENSP00000505249.1:n.*2560C>A
ENST00000680861.1:c.4866C>A	ENSP00000505043.1:p.His1622Gln
ENST00000680927.1:c.*1046C>A	ENSP00000505473.1:n.*1046C>A
ENST00000680939.1:n.6807C>A
ENST00000681250.1:c.*1583C>A	ENSP00000505684.1:n.*1583C>A
ENST00000681256.1:c.*2881C>A	ENSP00000505446.1:n.*2881C>A
ENST00000681279.1:n.5732C>A
ENST00000681307.1:n.5979C>A
ENST00000681461.1:n.5634C>A
ENST00000681495.1:c.2403C>A	ENSP00000506085.1:p.His801Gln
ENST00000681558.1:c.2544C>A	ENSP00000505568.1:p.His848Gln
ENST00000681619.1:c.4863C>A	ENSP00000505071.1:p.His1621Gln
ENST00000681663.1:n.1772C>A
ENST00000681692.1:n.2826C>A
ENST00000681716.1:c.*2720C>A	ENSP00000505078.1:n.*2720C>A
ENST00000681768.1:c.*2530C>A	ENSP00000506311.1:n.*2530C>A
ENST00000681808.1:c.4689C>A	ENSP00000505219.1:p.His1563Gln
ENST00000264276.10:c.4866C>A	ENSP00000264276.6:p.His1622Gln
ENST00000439495.5:c.2970C>A
NM_020919.3:c.4866C>A	NP_065970.2:p.His1622Gln
XM_005246709.2:c.4863C>A	XP_005246766.1:p.His1621Gln
XM_006712654.1:c.4866C>A	XP_006712717.1:p.His1622Gln
XM_006712655.2:c.2802C>A	XP_006712718.1:p.His934Gln
XM_011511530.1:c.4527C>A	XP_011509832.1:p.His1509Gln
XR_922974.1:n.5144C>A
XM_006712654.3:c.4866C>A	XP_006712717.1:p.His1622Gln
XM_006712655.3:c.2802C>A	XP_006712718.1:p.His934Gln
XM_017004569.2:c.4863C>A	XP_016860058.1:p.His1621Gln
XM_017004572.2:c.2484C>A	XP_016860061.1:p.His828Gln
XM_024453024.1:c.4527C>A	XP_024308792.1:p.His1509Gln
XM_024453025.1:c.2799C>A	XP_024308793.1:p.His933Gln
XR_001738864.2:n.4981C>A
XR_001738865.2:n.4978C>A
XR_001738866.2:n.5144C>A
XR_001738867.2:n.5141C>A
XR_002959320.1:n.4037C>A
NM_020919.4:c.4866C>A MANE Select	NP_065970.2:p.His1622Gln