Canonical Allele Identifier: CA350319202

Gene: ALS2

Linked Data

• ClinVar Variation Id: 3114144
• ClinVar RCV Id: RCV004411495
• dbSNP Id: rs1690914791
• gnomAD v4: 2-201723107-A-C
• MyVariant Identifiers: chr2:g.202587830A>C (hg19) ; chr2:g.201723107A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723107A>C , CM000664.2:g.201723107A>C	GRCh38
NC_000002.11:g.202587830A>C , CM000664.1:g.202587830A>C	GRCh37
NC_000002.10:g.202296075A>C	NCBI36
NG_008775.1:g.63066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3638T>G MANE Select	ENSP00000264276.6:p.Leu1213Trp
ENST00000439495.6:c.1316T>G	ENSP00000403832.2:p.Leu439Trp
ENST00000482891.6:n.4406T>G
ENST00000494017.6:n.1370T>G
ENST00000679409.1:c.1316T>G	ENSP00000506531.1:p.Leu439Trp
ENST00000679416.1:n.5142T>G
ENST00000679435.1:c.3638T>G	ENSP00000505218.1:p.Leu1213Trp
ENST00000679516.1:c.3638T>G	ENSP00000505187.1:p.Leu1213Trp
ENST00000679618.1:c.*726T>G	ENSP00000506274.1:n.*726T>G
ENST00000679630.1:n.5487T>G
ENST00000679686.1:n.3752T>G
ENST00000679701.1:n.6630T>G
ENST00000679916.1:c.3638T>G	ENSP00000506172.1:p.Leu1213Trp
ENST00000680000.1:c.3638T>G	ENSP00000506173.1:p.Leu1213Trp
ENST00000680135.1:c.*1602T>G	ENSP00000506211.1:n.*1602T>G
ENST00000680149.1:c.3638T>G	ENSP00000506497.1:p.Leu1213Trp
ENST00000680163.1:c.3638T>G	ENSP00000505092.1:p.Leu1213Trp
ENST00000680174.1:n.4329T>G
ENST00000680236.1:c.*699T>G	ENSP00000506212.1:n.*699T>G
ENST00000680497.1:c.3740T>G	ENSP00000505954.1:p.Leu1247Trp
ENST00000680508.1:c.3638T>G	ENSP00000505749.1:p.Leu1213Trp
ENST00000680569.1:c.*1349T>G	ENSP00000505522.1:n.*1349T>G
ENST00000680630.1:n.4070T>G
ENST00000680634.1:n.21-2618T>G
ENST00000680722.1:n.1438T>G
ENST00000680723.1:n.4421T>G
ENST00000680726.1:c.3638T>G	ENSP00000505505.1:p.Leu1213Trp
ENST00000680737.1:n.3909T>G
ENST00000680759.1:c.3638T>G	ENSP00000505848.1:p.Leu1213Trp
ENST00000680814.1:c.3638T>G	ENSP00000505710.1:p.Leu1213Trp
ENST00000680828.1:c.*1210T>G	ENSP00000505249.1:n.*1210T>G
ENST00000680861.1:c.3638T>G	ENSP00000505043.1:p.Leu1213Trp
ENST00000680927.1:c.3638T>G	ENSP00000505473.1:p.Leu1213Trp
ENST00000680939.1:n.3980T>G
ENST00000681152.1:c.3638T>G	ENSP00000505388.1:p.Leu1213Trp
ENST00000681250.1:c.*355T>G	ENSP00000505684.1:n.*355T>G
ENST00000681256.1:c.*1656T>G	ENSP00000505446.1:n.*1656T>G
ENST00000681279.1:n.4406T>G
ENST00000681303.1:c.3638T>G	ENSP00000505576.1:p.Leu1213Trp
ENST00000681307.1:n.4751T>G
ENST00000681461.1:n.4406T>G
ENST00000681495.1:c.1178T>G	ENSP00000506085.1:p.Leu393Trp
ENST00000681558.1:c.1316T>G	ENSP00000505568.1:p.Leu439Trp
ENST00000681619.1:c.3638T>G	ENSP00000505071.1:p.Leu1213Trp
ENST00000681716.1:c.*1349T>G	ENSP00000505078.1:n.*1349T>G
ENST00000681758.1:n.3980T>G
ENST00000681768.1:c.*1302T>G	ENSP00000506311.1:n.*1302T>G
ENST00000681808.1:c.3638T>G	ENSP00000505219.1:p.Leu1213Trp
ENST00000264276.10:c.3638T>G	ENSP00000264276.6:p.Leu1213Trp
ENST00000439495.5:c.1599T>G
ENST00000482891.5:n.3778T>G
ENST00000489440.5:n.459T>G
NM_020919.3:c.3638T>G	NP_065970.2:p.Leu1213Trp
XM_005246709.2:c.3638T>G	XP_005246766.1:p.Leu1213Trp
XM_006712654.1:c.3638T>G	XP_006712717.1:p.Leu1213Trp
XM_006712655.2:c.1574T>G	XP_006712718.1:p.Leu525Trp
XM_011511530.1:c.3299T>G	XP_011509832.1:p.Leu1100Trp
XM_011511531.1:c.3638T>G	XP_011509833.1:p.Leu1213Trp
XR_922974.1:n.3773T>G
XM_006712654.3:c.3638T>G	XP_006712717.1:p.Leu1213Trp
XM_006712655.3:c.1574T>G	XP_006712718.1:p.Leu525Trp
XM_017004569.2:c.3638T>G	XP_016860058.1:p.Leu1213Trp
XM_017004570.2:c.3638T>G	XP_016860059.1:p.Leu1213Trp
XM_017004572.2:c.1256T>G	XP_016860061.1:p.Leu419Trp
XM_024453024.1:c.3299T>G	XP_024308792.1:p.Leu1100Trp
XM_024453025.1:c.1574T>G	XP_024308793.1:p.Leu525Trp
XR_001738864.2:n.3773T>G
XR_001738865.2:n.3773T>G
XR_001738866.2:n.3773T>G
XR_001738867.2:n.3773T>G
XR_002959320.1:n.2829T>G
NM_020919.4:c.3638T>G MANE Select	NP_065970.2:p.Leu1213Trp