Canonical Allele Identifier: CA390431050
Gene: EIF2B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009156G>A , CM000676.2:g.75009156G>A GRCh38
NC_000014.8:g.75475859G>A , CM000676.1:g.75475859G>A GRCh37
NC_000014.7:g.74545612G>A NCBI36
NG_013333.1:g.11248G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.1024G>A MANE Select ENSP00000266126.5:p.Glu342Lys
ENST00000266126.9:c.1024G>A ENSP00000266126.5:p.Glu342Lys
ENST00000556668.1:n.604G>A
NM_014239.3:c.1024G>A NP_055054.1:p.Glu342Lys
NM_014239.4:c.1024G>A MANE Select NP_055054.1:p.Glu342Lys