Canonical Allele Identifier: CA2057462

Gene: ALS2

Linked Data

• ClinVar Variation Id: 1051215
• ClinVar RCV Id: RCV001359223
• dbSNP Id: rs767012535
• ExAC: 2:202568919 C / T
• gnomAD v2: 2-202568919-C-T
• gnomAD v3: 2-201704196-C-T
• gnomAD v4: 2-201704196-C-T
• MyVariant Identifiers: chr2:g.202568919C>T (hg19) ; chr2:g.201704196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704196C>T , CM000664.2:g.201704196C>T	GRCh38
NC_000002.11:g.202568919C>T , CM000664.1:g.202568919C>T	GRCh37
NC_000002.10:g.202277164C>T	NCBI36
NG_008775.1:g.81977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4861G>A MANE Select	ENSP00000264276.6:p.Val1621Ile
ENST00000439495.6:c.*1041G>A	ENSP00000403832.2:n.*1041G>A
ENST00000679409.1:c.*1566G>A	ENSP00000506531.1:n.*1566G>A
ENST00000679416.1:n.6365G>A
ENST00000679427.1:n.2532G>A
ENST00000679435.1:c.4861G>A	ENSP00000505218.1:p.Val1621Ile
ENST00000679516.1:c.4861G>A	ENSP00000505187.1:p.Val1621Ile
ENST00000679618.1:c.*1949G>A	ENSP00000506274.1:n.*1949G>A
ENST00000679630.1:n.6710G>A
ENST00000679635.1:n.3123G>A
ENST00000679686.1:n.4975G>A
ENST00000679701.1:n.7853G>A
ENST00000679916.1:c.*1209G>A	ENSP00000506172.1:n.*1209G>A
ENST00000680000.1:c.4861G>A	ENSP00000506173.1:p.Val1621Ile
ENST00000680135.1:c.*2822G>A	ENSP00000506211.1:n.*2822G>A
ENST00000680149.1:c.*143G>A	ENSP00000506497.1:n.*143G>A
ENST00000680163.1:c.4861G>A	ENSP00000505092.1:p.Val1621Ile
ENST00000680174.1:n.5552G>A
ENST00000680236.1:c.*1922G>A	ENSP00000506212.1:n.*1922G>A
ENST00000680404.1:n.376G>A
ENST00000680441.1:n.3419G>A
ENST00000680497.1:c.4963G>A	ENSP00000505954.1:p.Val1655Ile
ENST00000680508.1:c.*17G>A	ENSP00000505749.1:n.*17G>A
ENST00000680569.1:c.*2804G>A	ENSP00000505522.1:n.*2804G>A
ENST00000680634.1:n.1369G>A
ENST00000680722.1:n.2661G>A
ENST00000680726.1:c.*143G>A	ENSP00000505505.1:n.*143G>A
ENST00000680759.1:c.4693G>A	ENSP00000505848.1:p.Val1565Ile
ENST00000680814.1:c.4838+258G>A	ENSP00000505710.1:n.4838+258G>A
ENST00000680828.1:c.*2555G>A	ENSP00000505249.1:n.*2555G>A
ENST00000680861.1:c.4861G>A	ENSP00000505043.1:p.Val1621Ile
ENST00000680927.1:c.*1041G>A	ENSP00000505473.1:n.*1041G>A
ENST00000680939.1:n.6802G>A
ENST00000681250.1:c.*1578G>A	ENSP00000505684.1:n.*1578G>A
ENST00000681256.1:c.*2876G>A	ENSP00000505446.1:n.*2876G>A
ENST00000681279.1:n.5727G>A
ENST00000681307.1:n.5974G>A
ENST00000681461.1:n.5629G>A
ENST00000681495.1:c.2398G>A	ENSP00000506085.1:p.Val800Ile
ENST00000681558.1:c.2539G>A	ENSP00000505568.1:p.Val847Ile
ENST00000681619.1:c.4858G>A	ENSP00000505071.1:p.Val1620Ile
ENST00000681663.1:n.1767G>A
ENST00000681692.1:n.2821G>A
ENST00000681716.1:c.*2715G>A	ENSP00000505078.1:n.*2715G>A
ENST00000681768.1:c.*2525G>A	ENSP00000506311.1:n.*2525G>A
ENST00000681808.1:c.4684G>A	ENSP00000505219.1:p.Val1562Ile
ENST00000264276.10:c.4861G>A	ENSP00000264276.6:p.Val1621Ile
ENST00000439495.5:c.2965G>A
NM_020919.3:c.4861G>A	NP_065970.2:p.Val1621Ile
XM_005246709.2:c.4858G>A	XP_005246766.1:p.Val1620Ile
XM_006712654.1:c.4861G>A	XP_006712717.1:p.Val1621Ile
XM_006712655.2:c.2797G>A	XP_006712718.1:p.Val933Ile
XM_011511530.1:c.4522G>A	XP_011509832.1:p.Val1508Ile
XR_922974.1:n.5139G>A
XM_006712654.3:c.4861G>A	XP_006712717.1:p.Val1621Ile
XM_006712655.3:c.2797G>A	XP_006712718.1:p.Val933Ile
XM_017004569.2:c.4858G>A	XP_016860058.1:p.Val1620Ile
XM_017004572.2:c.2479G>A	XP_016860061.1:p.Val827Ile
XM_024453024.1:c.4522G>A	XP_024308792.1:p.Val1508Ile
XM_024453025.1:c.2794G>A	XP_024308793.1:p.Val932Ile
XR_001738864.2:n.4976G>A
XR_001738865.2:n.4973G>A
XR_001738866.2:n.5139G>A
XR_001738867.2:n.5136G>A
XR_002959320.1:n.4032G>A
NM_020919.4:c.4861G>A MANE Select	NP_065970.2:p.Val1621Ile