Canonical Allele Identifier: CA340238
Gene: ALS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4405
ClinVar RCV Id: RCV000004655
dbSNP Id: rs386134173

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201767266del , CM000664.2:g.201767266del GRCh38
NC_000002.11:g.202631989del , CM000664.1:g.202631989del GRCh37
NC_000002.10:g.202340234del NCBI36
NG_008775.1:g.18907del

Transcript Alleles

HGVS Amino-acid change
NM_001135745.1:c.138del VV NP_001129217.1:p.Ala47ProfsTer4
NM_020919.3:c.138del VV NP_065970.2:p.Ala47ProfsTer4
XM_005246709.2:c.138del XP_005246766.1:p.Ala47ProfsTer4
XM_006712654.1:c.138del XP_006712717.1:p.Ala47ProfsTer4
XM_011511530.1:c.-377del XP_011509832.1:p.=
XM_011511531.1:c.138del XP_011509833.1:p.Ala47ProfsTer4
XR_922974.1:n.273del
XM_006712654.3:c.138del XP_006712717.1:p.Ala47ProfsTer4
XM_017004569.2:c.138del XP_016860058.1:p.Ala47ProfsTer4
XM_017004570.2:c.138del XP_016860059.1:p.Ala47ProfsTer4
XM_024453024.1:c.-377del XP_024308792.1:p.=
XR_001738864.2:n.273del
XR_001738865.2:n.273del
XR_001738866.2:n.273del
XR_001738867.2:n.273del
NM_020919.4:c.138del VV MANE Preferred NP_065970.2:p.Ala47ProfsTer4
ENST00000264276.10:c.138del ENSP00000264276.6:p.Ala47ProfsTer4
ENST00000409632.6:c.138del ENSP00000386384.2:p.Ala47ProfsTer4
ENST00000410052.1:c.138del ENSP00000386948.1:p.Ala47ProfsTer4
ENST00000462747.1:n.233del
ENST00000467448.5:c.138del ENSP00000429223.1:p.Ala47ProfsTer4
ENST00000482789.5:n.278del
ENST00000482891.5:n.278del
ENST00000496244.5:n.278del