Canonical Allele Identifier: CA263654954
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs867035780

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005865G>A , CM000676.2:g.75005865G>A GRCh38
NC_000014.8:g.75472568G>A , CM000676.1:g.75472568G>A GRCh37
NC_000014.7:g.74542321G>A NCBI36
NG_013333.1:g.7957G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.598-1G>A MANE Select ENSP00000266126.5:n.598-1G>A
ENST00000266126.9:c.598-1G>A ENSP00000266126.5:n.598-1G>A
ENST00000553401.5:c.595G>A ENSP00000451681.1:p.Gly199Arg
ENST00000556028.5:c.598-32G>A ENSP00000452311.1:n.598-32G>A
NM_014239.3:c.598-1G>A NP_055054.1:n.598-1G>A
NM_014239.4:c.598-1G>A MANE Select NP_055054.1:n.598-1G>A