Canonical Allele Identifier: CA430667134

Gene: ALS2

Linked Data

• ClinVar Variation Id: 2771134
• ClinVar RCV Id: RCV003504001
• dbSNP Id: rs1258953110
• gnomAD v2: 2-202568917-T-C
• gnomAD v4: 2-201704194-T-C
• MyVariant Identifiers: chr2:g.202568917T>C (hg19) ; chr2:g.201704194T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704194T>C , CM000664.2:g.201704194T>C	GRCh38
NC_000002.11:g.202568917T>C , CM000664.1:g.202568917T>C	GRCh37
NC_000002.10:g.202277162T>C	NCBI36
NG_008775.1:g.81979A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4863A>G MANE Select	ENSP00000264276.6:p.Val1621=
ENST00000439495.6:c.*1043A>G	ENSP00000403832.2:n.*1043A>G
ENST00000679409.1:c.*1568A>G	ENSP00000506531.1:n.*1568A>G
ENST00000679416.1:n.6367A>G
ENST00000679427.1:n.2534A>G
ENST00000679435.1:c.4863A>G	ENSP00000505218.1:p.Val1621=
ENST00000679516.1:c.4863A>G	ENSP00000505187.1:p.Val1621=
ENST00000679618.1:c.*1951A>G	ENSP00000506274.1:n.*1951A>G
ENST00000679630.1:n.6712A>G
ENST00000679635.1:n.3125A>G
ENST00000679686.1:n.4977A>G
ENST00000679701.1:n.7855A>G
ENST00000679916.1:c.*1211A>G	ENSP00000506172.1:n.*1211A>G
ENST00000680000.1:c.4863A>G	ENSP00000506173.1:p.Val1621=
ENST00000680135.1:c.*2824A>G	ENSP00000506211.1:n.*2824A>G
ENST00000680149.1:c.*145A>G	ENSP00000506497.1:n.*145A>G
ENST00000680163.1:c.4863A>G	ENSP00000505092.1:p.Val1621=
ENST00000680174.1:n.5554A>G
ENST00000680236.1:c.*1924A>G	ENSP00000506212.1:n.*1924A>G
ENST00000680404.1:n.378A>G
ENST00000680441.1:n.3421A>G
ENST00000680497.1:c.4965A>G	ENSP00000505954.1:p.Val1655=
ENST00000680508.1:c.*19A>G	ENSP00000505749.1:n.*19A>G
ENST00000680569.1:c.*2806A>G	ENSP00000505522.1:n.*2806A>G
ENST00000680634.1:n.1371A>G
ENST00000680722.1:n.2663A>G
ENST00000680726.1:c.*145A>G	ENSP00000505505.1:n.*145A>G
ENST00000680759.1:c.4695A>G	ENSP00000505848.1:p.Val1565=
ENST00000680814.1:c.4838+260A>G	ENSP00000505710.1:n.4838+260A>G
ENST00000680828.1:c.*2557A>G	ENSP00000505249.1:n.*2557A>G
ENST00000680861.1:c.4863A>G	ENSP00000505043.1:p.Val1621=
ENST00000680927.1:c.*1043A>G	ENSP00000505473.1:n.*1043A>G
ENST00000680939.1:n.6804A>G
ENST00000681250.1:c.*1580A>G	ENSP00000505684.1:n.*1580A>G
ENST00000681256.1:c.*2878A>G	ENSP00000505446.1:n.*2878A>G
ENST00000681279.1:n.5729A>G
ENST00000681307.1:n.5976A>G
ENST00000681461.1:n.5631A>G
ENST00000681495.1:c.2400A>G	ENSP00000506085.1:p.Val800=
ENST00000681558.1:c.2541A>G	ENSP00000505568.1:p.Val847=
ENST00000681619.1:c.4860A>G	ENSP00000505071.1:p.Val1620=
ENST00000681663.1:n.1769A>G
ENST00000681692.1:n.2823A>G
ENST00000681716.1:c.*2717A>G	ENSP00000505078.1:n.*2717A>G
ENST00000681768.1:c.*2527A>G	ENSP00000506311.1:n.*2527A>G
ENST00000681808.1:c.4686A>G	ENSP00000505219.1:p.Val1562=
ENST00000264276.10:c.4863A>G	ENSP00000264276.6:p.Val1621=
ENST00000439495.5:c.2967A>G
NM_020919.3:c.4863A>G	NP_065970.2:p.Val1621=
XM_005246709.2:c.4860A>G	XP_005246766.1:p.Val1620=
XM_006712654.1:c.4863A>G	XP_006712717.1:p.Val1621=
XM_006712655.2:c.2799A>G	XP_006712718.1:p.Val933=
XM_011511530.1:c.4524A>G	XP_011509832.1:p.Val1508=
XR_922974.1:n.5141A>G
XM_006712654.3:c.4863A>G	XP_006712717.1:p.Val1621=
XM_006712655.3:c.2799A>G	XP_006712718.1:p.Val933=
XM_017004569.2:c.4860A>G	XP_016860058.1:p.Val1620=
XM_017004572.2:c.2481A>G	XP_016860061.1:p.Val827=
XM_024453024.1:c.4524A>G	XP_024308792.1:p.Val1508=
XM_024453025.1:c.2796A>G	XP_024308793.1:p.Val932=
XR_001738864.2:n.4978A>G
XR_001738865.2:n.4975A>G
XR_001738866.2:n.5141A>G
XR_001738867.2:n.5138A>G
XR_002959320.1:n.4034A>G
NM_020919.4:c.4863A>G MANE Select	NP_065970.2:p.Val1621=