Canonical Allele Identifier: CA430667168

Gene: ALS2

Linked Data

• dbSNP Id: rs1410517384
• gnomAD v2: 2-202568941-C-T
• gnomAD v3: 2-201704218-C-T
• gnomAD v4: 2-201704218-C-T
• MyVariant Identifiers: chr2:g.202568941C>T (hg19) ; chr2:g.201704218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704218C>T , CM000664.2:g.201704218C>T	GRCh38
NC_000002.11:g.202568941C>T , CM000664.1:g.202568941C>T	GRCh37
NC_000002.10:g.202277186C>T	NCBI36
NG_008775.1:g.81955G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4839G>A MANE Select	ENSP00000264276.6:p.Arg1613=
ENST00000439495.6:c.*1019G>A	ENSP00000403832.2:n.*1019G>A
ENST00000679409.1:c.*1544G>A	ENSP00000506531.1:n.*1544G>A
ENST00000679416.1:n.6343G>A
ENST00000679427.1:n.2510G>A
ENST00000679435.1:c.4839G>A	ENSP00000505218.1:p.Arg1613=
ENST00000679516.1:c.4839G>A	ENSP00000505187.1:p.Arg1613=
ENST00000679618.1:c.*1927G>A	ENSP00000506274.1:n.*1927G>A
ENST00000679630.1:n.6688G>A
ENST00000679635.1:n.3101G>A
ENST00000679686.1:n.4953G>A
ENST00000679701.1:n.7831G>A
ENST00000679916.1:c.*1187G>A	ENSP00000506172.1:n.*1187G>A
ENST00000680000.1:c.4839G>A	ENSP00000506173.1:p.Arg1613=
ENST00000680135.1:c.*2800G>A	ENSP00000506211.1:n.*2800G>A
ENST00000680149.1:c.*121G>A	ENSP00000506497.1:n.*121G>A
ENST00000680163.1:c.4839G>A	ENSP00000505092.1:p.Arg1613=
ENST00000680174.1:n.5530G>A
ENST00000680236.1:c.*1900G>A	ENSP00000506212.1:n.*1900G>A
ENST00000680404.1:n.354G>A
ENST00000680441.1:n.3397G>A
ENST00000680497.1:c.4941G>A	ENSP00000505954.1:p.Arg1647=
ENST00000680508.1:c.4858G>A	ENSP00000505749.1:p.Asp1620Asn
ENST00000680569.1:c.*2782G>A	ENSP00000505522.1:n.*2782G>A
ENST00000680634.1:n.1347G>A
ENST00000680722.1:n.2639G>A
ENST00000680726.1:c.*121G>A	ENSP00000505505.1:n.*121G>A
ENST00000680759.1:c.4671G>A	ENSP00000505848.1:p.Arg1557=
ENST00000680814.1:c.4838+236G>A	ENSP00000505710.1:n.4838+236G>A
ENST00000680828.1:c.*2533G>A	ENSP00000505249.1:n.*2533G>A
ENST00000680861.1:c.4839G>A	ENSP00000505043.1:p.Arg1613=
ENST00000680927.1:c.*1019G>A	ENSP00000505473.1:n.*1019G>A
ENST00000680939.1:n.6780G>A
ENST00000681250.1:c.*1556G>A	ENSP00000505684.1:n.*1556G>A
ENST00000681256.1:c.*2854G>A	ENSP00000505446.1:n.*2854G>A
ENST00000681279.1:n.5705G>A
ENST00000681307.1:n.5952G>A
ENST00000681461.1:n.5607G>A
ENST00000681495.1:c.2376G>A	ENSP00000506085.1:p.Arg792=
ENST00000681558.1:c.2517G>A	ENSP00000505568.1:p.Arg839=
ENST00000681619.1:c.4836G>A	ENSP00000505071.1:p.Arg1612=
ENST00000681663.1:n.1745G>A
ENST00000681692.1:n.2799G>A
ENST00000681716.1:c.*2693G>A	ENSP00000505078.1:n.*2693G>A
ENST00000681768.1:c.*2503G>A	ENSP00000506311.1:n.*2503G>A
ENST00000681808.1:c.4662G>A	ENSP00000505219.1:p.Arg1554=
ENST00000264276.10:c.4839G>A	ENSP00000264276.6:p.Arg1613=
ENST00000439495.5:c.2943G>A
NM_020919.3:c.4839G>A	NP_065970.2:p.Arg1613=
XM_005246709.2:c.4836G>A	XP_005246766.1:p.Arg1612=
XM_006712654.1:c.4839G>A	XP_006712717.1:p.Arg1613=
XM_006712655.2:c.2775G>A	XP_006712718.1:p.Arg925=
XM_011511530.1:c.4500G>A	XP_011509832.1:p.Arg1500=
XR_922974.1:n.5117G>A
XM_006712654.3:c.4839G>A	XP_006712717.1:p.Arg1613=
XM_006712655.3:c.2775G>A	XP_006712718.1:p.Arg925=
XM_017004569.2:c.4836G>A	XP_016860058.1:p.Arg1612=
XM_017004572.2:c.2457G>A	XP_016860061.1:p.Arg819=
XM_024453024.1:c.4500G>A	XP_024308792.1:p.Arg1500=
XM_024453025.1:c.2772G>A	XP_024308793.1:p.Arg924=
XR_001738864.2:n.4954G>A
XR_001738865.2:n.4951G>A
XR_001738866.2:n.5117G>A
XR_001738867.2:n.5114G>A
XR_002959320.1:n.4010G>A
NM_020919.4:c.4839G>A MANE Select	NP_065970.2:p.Arg1613=