Canonical Allele Identifier: CA350319822

Gene: ALS2

Linked Data

• gnomAD v4: 2-201724414-C-T
• MyVariant Identifiers: chr2:g.202589137C>T (hg19) ; chr2:g.201724414C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201724414C>T , CM000664.2:g.201724414C>T	GRCh38
NC_000002.11:g.202589137C>T , CM000664.1:g.202589137C>T	GRCh37
NC_000002.10:g.202297382C>T	NCBI36
NG_008775.1:g.61759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3393G>A MANE Select	ENSP00000264276.6:p.Met1131Ile
ENST00000439495.6:c.1071G>A	ENSP00000403832.2:p.Met357Ile
ENST00000482891.6:n.4161G>A
ENST00000494017.6:n.1125G>A
ENST00000679409.1:c.1071G>A	ENSP00000506531.1:p.Met357Ile
ENST00000679416.1:n.4897G>A
ENST00000679435.1:c.3393G>A	ENSP00000505218.1:p.Met1131Ile
ENST00000679516.1:c.3393G>A	ENSP00000505187.1:p.Met1131Ile
ENST00000679618.1:c.*481G>A	ENSP00000506274.1:n.*481G>A
ENST00000679630.1:n.5242G>A
ENST00000679686.1:n.3507G>A
ENST00000679701.1:n.6385G>A
ENST00000679916.1:c.3393G>A	ENSP00000506172.1:p.Met1131Ile
ENST00000680000.1:c.3393G>A	ENSP00000506173.1:p.Met1131Ile
ENST00000680135.1:c.*1357G>A	ENSP00000506211.1:n.*1357G>A
ENST00000680149.1:c.3393G>A	ENSP00000506497.1:p.Met1131Ile
ENST00000680163.1:c.3393G>A	ENSP00000505092.1:p.Met1131Ile
ENST00000680174.1:n.4084G>A
ENST00000680236.1:c.*454G>A	ENSP00000506212.1:n.*454G>A
ENST00000680497.1:c.3495G>A	ENSP00000505954.1:p.Met1165Ile
ENST00000680508.1:c.3393G>A	ENSP00000505749.1:p.Met1131Ile
ENST00000680569.1:c.*1104G>A	ENSP00000505522.1:n.*1104G>A
ENST00000680630.1:n.3825G>A
ENST00000680634.1:n.21-3925G>A
ENST00000680722.1:n.1193G>A
ENST00000680723.1:n.4176G>A
ENST00000680726.1:c.3393G>A	ENSP00000505505.1:p.Met1131Ile
ENST00000680737.1:n.3664G>A
ENST00000680759.1:c.3393G>A	ENSP00000505848.1:p.Met1131Ile
ENST00000680814.1:c.3393G>A	ENSP00000505710.1:p.Met1131Ile
ENST00000680828.1:c.*965G>A	ENSP00000505249.1:n.*965G>A
ENST00000680861.1:c.3393G>A	ENSP00000505043.1:p.Met1131Ile
ENST00000680927.1:c.3393G>A	ENSP00000505473.1:p.Met1131Ile
ENST00000680939.1:n.3735G>A
ENST00000681152.1:c.3393G>A	ENSP00000505388.1:p.Met1131Ile
ENST00000681250.1:c.*110G>A	ENSP00000505684.1:n.*110G>A
ENST00000681256.1:c.*1411G>A	ENSP00000505446.1:n.*1411G>A
ENST00000681279.1:n.4161G>A
ENST00000681303.1:c.3393G>A	ENSP00000505576.1:p.Met1131Ile
ENST00000681307.1:n.4506G>A
ENST00000681461.1:n.4161G>A
ENST00000681495.1:c.933G>A	ENSP00000506085.1:p.Met311Ile
ENST00000681558.1:c.1071G>A	ENSP00000505568.1:p.Met357Ile
ENST00000681619.1:c.3393G>A	ENSP00000505071.1:p.Met1131Ile
ENST00000681716.1:c.*1104G>A	ENSP00000505078.1:n.*1104G>A
ENST00000681758.1:n.3735G>A
ENST00000681768.1:c.*1057G>A	ENSP00000506311.1:n.*1057G>A
ENST00000681808.1:c.3393G>A	ENSP00000505219.1:p.Met1131Ile
ENST00000264276.10:c.3393G>A	ENSP00000264276.6:p.Met1131Ile
ENST00000439495.5:c.1354G>A
ENST00000482891.5:n.3533G>A
ENST00000489440.5:n.214G>A
NM_020919.3:c.3393G>A	NP_065970.2:p.Met1131Ile
XM_005246709.2:c.3393G>A	XP_005246766.1:p.Met1131Ile
XM_006712654.1:c.3393G>A	XP_006712717.1:p.Met1131Ile
XM_006712655.2:c.1329G>A	XP_006712718.1:p.Met443Ile
XM_011511530.1:c.3054G>A	XP_011509832.1:p.Met1018Ile
XM_011511531.1:c.3393G>A	XP_011509833.1:p.Met1131Ile
XR_922974.1:n.3528G>A
XM_006712654.3:c.3393G>A	XP_006712717.1:p.Met1131Ile
XM_006712655.3:c.1329G>A	XP_006712718.1:p.Met443Ile
XM_017004569.2:c.3393G>A	XP_016860058.1:p.Met1131Ile
XM_017004570.2:c.3393G>A	XP_016860059.1:p.Met1131Ile
XM_017004572.2:c.1011G>A	XP_016860061.1:p.Met337Ile
XM_024453024.1:c.3054G>A	XP_024308792.1:p.Met1018Ile
XM_024453025.1:c.1329G>A	XP_024308793.1:p.Met443Ile
XR_001738864.2:n.3528G>A
XR_001738865.2:n.3528G>A
XR_001738866.2:n.3528G>A
XR_001738867.2:n.3528G>A
XR_002959320.1:n.2584G>A
NM_020919.4:c.3393G>A MANE Select	NP_065970.2:p.Met1131Ile