Canonical Allele Identifier: CA390430427

Gene: EIF2B2

Linked Data

• MyVariant Identifiers: chr14:g.75475791A>G (hg19) ; chr14:g.75009088A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75009088A>G , CM000676.2:g.75009088A>G	GRCh38
NC_000014.8:g.75475791A>G , CM000676.1:g.75475791A>G	GRCh37
NC_000014.7:g.74545544A>G	NCBI36
NG_013333.1:g.11180A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.956A>G MANE Select	ENSP00000266126.5:p.Glu319Gly
ENST00000266126.9:c.956A>G	ENSP00000266126.5:p.Glu319Gly
ENST00000556668.1:n.536A>G
NM_014239.3:c.956A>G	NP_055054.1:p.Glu319Gly
NM_014239.4:c.956A>G MANE Select	NP_055054.1:p.Glu319Gly