Canonical Allele Identifier: CA263656853
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs768467979
MyVariant Identifiers: chr14:g.75475756C>A (hg19) chr14:g.75009053C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009053C>A , CM000676.2:g.75009053C>A GRCh38
NC_000014.8:g.75475756C>A , CM000676.1:g.75475756C>A GRCh37
NC_000014.7:g.74545509C>A NCBI36
NG_013333.1:g.11145C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.921C>A MANE Select ENSP00000266126.5:p.Ser307Arg
ENST00000266126.9:c.921C>A ENSP00000266126.5:p.Ser307Arg
ENST00000556668.1:n.501C>A
NM_014239.3:c.921C>A NP_055054.1:p.Ser307Arg
NM_014239.4:c.921C>A MANE Select NP_055054.1:p.Ser307Arg
Search 100 bp 5'
Search 100 bp 3'