Canonical Allele Identifier: CA487178820
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs1889666620
gnomAD v3: 14-75009044-G-A
gnomAD v4: 14-75009044-G-A
MyVariant Identifiers: chr14:g.75475747G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009044G>A , CM000676.2:g.75009044G>A GRCh38
NC_000014.8:g.75475747G>A , CM000676.1:g.75475747G>A GRCh37
NC_000014.7:g.74545500G>A NCBI36
NG_013333.1:g.11136G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.912G>A MANE Select ENSP00000266126.5:p.Glu304=
ENST00000266126.9:c.912G>A ENSP00000266126.5:p.Glu304=
ENST00000556668.1:n.492G>A
NM_014239.3:c.912G>A NP_055054.1:p.Glu304=
NM_014239.4:c.912G>A MANE Select NP_055054.1:p.Glu304=
Search 100 bp 5'
Search 100 bp 3'