Canonical Allele Identifier: CA340227
Gene: EIF2B2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4337
ClinVar RCV Id: RCV000004585
dbSNP Id: rs104894426

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009079T>A , CM000676.2:g.75009079T>A GRCh38
NC_000014.8:g.75475782T>A , CM000676.1:g.75475782T>A GRCh37
NC_000014.7:g.74545535T>A NCBI36
NG_013333.1:g.11171T>A

Transcript Alleles

HGVS Amino-acid change
NM_014239.3:c.947T>A VV NP_055054.1:p.Val316Asp
ENST00000266126.9:c.947T>A ENSP00000266126.5:p.Val316Asp
ENST00000556668.1:n.527T>A