Canonical Allele Identifier: CA7275111
Gene: EIF2B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 522641
ClinVar RCV Id: RCV000625780 RCV001578122 RCV001814200
dbSNP Id: rs372548739
ExAC: 14:75475757 G / A
gnomAD v2: 14-75475757-G-A
gnomAD v3: 14-75009054-G-A
gnomAD v4: 14-75009054-G-A
COSMIC: COSM957894
MyVariant Identifiers: chr14:g.75475757G>A (hg19) chr14:g.75009054G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009054G>A , CM000676.2:g.75009054G>A GRCh38
NC_000014.8:g.75475757G>A , CM000676.1:g.75475757G>A GRCh37
NC_000014.7:g.74545510G>A NCBI36
NG_013333.1:g.11146G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.922G>A MANE Select ENSP00000266126.5:p.Val308Met
ENST00000266126.9:c.922G>A ENSP00000266126.5:p.Val308Met
ENST00000556668.1:n.502G>A
NM_014239.3:c.922G>A NP_055054.1:p.Val308Met
NM_014239.4:c.922G>A MANE Select NP_055054.1:p.Val308Met
Search 100 bp 5'
Search 100 bp 3'