Canonical Allele Identifier: CA63977113

Gene: ALS2

Linked Data

• ClinVar Variation Id: 3114176
• ClinVar RCV Id: RCV004411527
• dbSNP Id: rs905097885
• gnomAD v2: 2-202568874-C-T
• gnomAD v3: 2-201704151-C-T
• gnomAD v4: 2-201704151-C-T
• MyVariant Identifiers: chr2:g.202568874C>T (hg19) ; chr2:g.201704151C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704151C>T , CM000664.2:g.201704151C>T	GRCh38
NC_000002.11:g.202568874C>T , CM000664.1:g.202568874C>T	GRCh37
NC_000002.10:g.202277119C>T	NCBI36
NG_008775.1:g.82022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4906G>A MANE Select	ENSP00000264276.6:p.Glu1636Lys
ENST00000439495.6:c.*1086G>A	ENSP00000403832.2:n.*1086G>A
ENST00000679409.1:c.*1611G>A	ENSP00000506531.1:n.*1611G>A
ENST00000679416.1:n.6410G>A
ENST00000679427.1:n.2577G>A
ENST00000679435.1:c.4906G>A	ENSP00000505218.1:p.Glu1636Lys
ENST00000679516.1:c.4906G>A	ENSP00000505187.1:p.Glu1636Lys
ENST00000679618.1:c.*1994G>A	ENSP00000506274.1:n.*1994G>A
ENST00000679630.1:n.6755G>A
ENST00000679635.1:n.3168G>A
ENST00000679686.1:n.5020G>A
ENST00000679701.1:n.7898G>A
ENST00000679916.1:c.*1254G>A	ENSP00000506172.1:n.*1254G>A
ENST00000680000.1:c.4906G>A	ENSP00000506173.1:p.Glu1636Lys
ENST00000680135.1:c.*2867G>A	ENSP00000506211.1:n.*2867G>A
ENST00000680149.1:c.*188G>A	ENSP00000506497.1:n.*188G>A
ENST00000680163.1:c.4906G>A	ENSP00000505092.1:p.Glu1636Lys
ENST00000680174.1:n.5597G>A
ENST00000680236.1:c.*1967G>A	ENSP00000506212.1:n.*1967G>A
ENST00000680404.1:n.421G>A
ENST00000680441.1:n.3464G>A
ENST00000680497.1:c.5008G>A	ENSP00000505954.1:p.Glu1670Lys
ENST00000680508.1:c.*62G>A	ENSP00000505749.1:n.*62G>A
ENST00000680569.1:c.*2849G>A	ENSP00000505522.1:n.*2849G>A
ENST00000680634.1:n.1414G>A
ENST00000680722.1:n.2706G>A
ENST00000680726.1:c.*188G>A	ENSP00000505505.1:n.*188G>A
ENST00000680759.1:c.4738G>A	ENSP00000505848.1:p.Glu1580Lys
ENST00000680814.1:c.4838+303G>A	ENSP00000505710.1:n.4838+303G>A
ENST00000680828.1:c.*2600G>A	ENSP00000505249.1:n.*2600G>A
ENST00000680861.1:c.4906G>A	ENSP00000505043.1:p.Glu1636Lys
ENST00000680927.1:c.*1086G>A	ENSP00000505473.1:n.*1086G>A
ENST00000680939.1:n.6847G>A
ENST00000681250.1:c.*1623G>A	ENSP00000505684.1:n.*1623G>A
ENST00000681256.1:c.*2921G>A	ENSP00000505446.1:n.*2921G>A
ENST00000681279.1:n.5772G>A
ENST00000681307.1:n.6019G>A
ENST00000681461.1:n.5674G>A
ENST00000681495.1:c.2443G>A	ENSP00000506085.1:p.Glu815Lys
ENST00000681558.1:c.2584G>A	ENSP00000505568.1:p.Glu862Lys
ENST00000681619.1:c.4903G>A	ENSP00000505071.1:p.Glu1635Lys
ENST00000681663.1:n.1812G>A
ENST00000681692.1:n.2866G>A
ENST00000681716.1:c.*2760G>A	ENSP00000505078.1:n.*2760G>A
ENST00000681768.1:c.*2570G>A	ENSP00000506311.1:n.*2570G>A
ENST00000681808.1:c.4729G>A	ENSP00000505219.1:p.Glu1577Lys
ENST00000264276.10:c.4906G>A	ENSP00000264276.6:p.Glu1636Lys
ENST00000439495.5:c.3010G>A
NM_020919.3:c.4906G>A	NP_065970.2:p.Glu1636Lys
XM_005246709.2:c.4903G>A	XP_005246766.1:p.Glu1635Lys
XM_006712654.1:c.4906G>A	XP_006712717.1:p.Glu1636Lys
XM_006712655.2:c.2842G>A	XP_006712718.1:p.Glu948Lys
XM_011511530.1:c.4567G>A	XP_011509832.1:p.Glu1523Lys
XR_922974.1:n.5184G>A
XM_006712654.3:c.4906G>A	XP_006712717.1:p.Glu1636Lys
XM_006712655.3:c.2842G>A	XP_006712718.1:p.Glu948Lys
XM_017004569.2:c.4903G>A	XP_016860058.1:p.Glu1635Lys
XM_017004572.2:c.2524G>A	XP_016860061.1:p.Glu842Lys
XM_024453024.1:c.4567G>A	XP_024308792.1:p.Glu1523Lys
XM_024453025.1:c.2839G>A	XP_024308793.1:p.Glu947Lys
XR_001738864.2:n.5021G>A
XR_001738865.2:n.5018G>A
XR_001738866.2:n.5184G>A
XR_001738867.2:n.5181G>A
XR_002959320.1:n.4077G>A
NM_020919.4:c.4906G>A MANE Select	NP_065970.2:p.Glu1636Lys