Canonical Allele Identifier: CA2057836

Gene: ALS2

Linked Data

• dbSNP Id: rs770084921
• ExAC: 2:202588109 C / T
• gnomAD v2: 2-202588109-C-T
• gnomAD v4: 2-201723386-C-T
• MyVariant Identifiers: chr2:g.202588109C>T (hg19) ; chr2:g.201723386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723386C>T , CM000664.2:g.201723386C>T	GRCh38
NC_000002.11:g.202588109C>T , CM000664.1:g.202588109C>T	GRCh37
NC_000002.10:g.202296354C>T	NCBI36
NG_008775.1:g.62787G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3568G>A MANE Select	ENSP00000264276.6:p.Val1190Met
ENST00000439495.6:c.1246G>A	ENSP00000403832.2:p.Val416Met
ENST00000482891.6:n.4336G>A
ENST00000494017.6:n.1300G>A
ENST00000679409.1:c.1246G>A	ENSP00000506531.1:p.Val416Met
ENST00000679416.1:n.5072G>A
ENST00000679435.1:c.3568G>A	ENSP00000505218.1:p.Val1190Met
ENST00000679516.1:c.3568G>A	ENSP00000505187.1:p.Val1190Met
ENST00000679618.1:c.*656G>A	ENSP00000506274.1:n.*656G>A
ENST00000679630.1:n.5417G>A
ENST00000679686.1:n.3682G>A
ENST00000679701.1:n.6560G>A
ENST00000679916.1:c.3568G>A	ENSP00000506172.1:p.Val1190Met
ENST00000680000.1:c.3568G>A	ENSP00000506173.1:p.Val1190Met
ENST00000680135.1:c.*1532G>A	ENSP00000506211.1:n.*1532G>A
ENST00000680149.1:c.3568G>A	ENSP00000506497.1:p.Val1190Met
ENST00000680163.1:c.3568G>A	ENSP00000505092.1:p.Val1190Met
ENST00000680174.1:n.4259G>A
ENST00000680236.1:c.*629G>A	ENSP00000506212.1:n.*629G>A
ENST00000680497.1:c.3670G>A	ENSP00000505954.1:p.Val1224Met
ENST00000680508.1:c.3568G>A	ENSP00000505749.1:p.Val1190Met
ENST00000680569.1:c.*1279G>A	ENSP00000505522.1:n.*1279G>A
ENST00000680630.1:n.4000G>A
ENST00000680634.1:n.21-2897G>A
ENST00000680722.1:n.1368G>A
ENST00000680723.1:n.4351G>A
ENST00000680726.1:c.3568G>A	ENSP00000505505.1:p.Val1190Met
ENST00000680737.1:n.3839G>A
ENST00000680759.1:c.3568G>A	ENSP00000505848.1:p.Val1190Met
ENST00000680814.1:c.3568G>A	ENSP00000505710.1:p.Val1190Met
ENST00000680828.1:c.*1140G>A	ENSP00000505249.1:n.*1140G>A
ENST00000680861.1:c.3568G>A	ENSP00000505043.1:p.Val1190Met
ENST00000680927.1:c.3568G>A	ENSP00000505473.1:p.Val1190Met
ENST00000680939.1:n.3910G>A
ENST00000681152.1:c.3568G>A	ENSP00000505388.1:p.Val1190Met
ENST00000681250.1:c.*285G>A	ENSP00000505684.1:n.*285G>A
ENST00000681256.1:c.*1586G>A	ENSP00000505446.1:n.*1586G>A
ENST00000681279.1:n.4336G>A
ENST00000681303.1:c.3568G>A	ENSP00000505576.1:p.Val1190Met
ENST00000681307.1:n.4681G>A
ENST00000681461.1:n.4336G>A
ENST00000681495.1:c.1108G>A	ENSP00000506085.1:p.Val370Met
ENST00000681558.1:c.1246G>A	ENSP00000505568.1:p.Val416Met
ENST00000681619.1:c.3568G>A	ENSP00000505071.1:p.Val1190Met
ENST00000681716.1:c.*1279G>A	ENSP00000505078.1:n.*1279G>A
ENST00000681758.1:n.3910G>A
ENST00000681768.1:c.*1232G>A	ENSP00000506311.1:n.*1232G>A
ENST00000681808.1:c.3568G>A	ENSP00000505219.1:p.Val1190Met
ENST00000264276.10:c.3568G>A	ENSP00000264276.6:p.Val1190Met
ENST00000439495.5:c.1529G>A
ENST00000482891.5:n.3708G>A
ENST00000489440.5:n.389G>A
NM_020919.3:c.3568G>A	NP_065970.2:p.Val1190Met
XM_005246709.2:c.3568G>A	XP_005246766.1:p.Val1190Met
XM_006712654.1:c.3568G>A	XP_006712717.1:p.Val1190Met
XM_006712655.2:c.1504G>A	XP_006712718.1:p.Val502Met
XM_011511530.1:c.3229G>A	XP_011509832.1:p.Val1077Met
XM_011511531.1:c.3568G>A	XP_011509833.1:p.Val1190Met
XR_922974.1:n.3703G>A
XM_006712654.3:c.3568G>A	XP_006712717.1:p.Val1190Met
XM_006712655.3:c.1504G>A	XP_006712718.1:p.Val502Met
XM_017004569.2:c.3568G>A	XP_016860058.1:p.Val1190Met
XM_017004570.2:c.3568G>A	XP_016860059.1:p.Val1190Met
XM_017004572.2:c.1186G>A	XP_016860061.1:p.Val396Met
XM_024453024.1:c.3229G>A	XP_024308792.1:p.Val1077Met
XM_024453025.1:c.1504G>A	XP_024308793.1:p.Val502Met
XR_001738864.2:n.3703G>A
XR_001738865.2:n.3703G>A
XR_001738866.2:n.3703G>A
XR_001738867.2:n.3703G>A
XR_002959320.1:n.2759G>A
NM_020919.4:c.3568G>A MANE Select	NP_065970.2:p.Val1190Met