Canonical Allele Identifier: CA487177389

Gene: EIF2B2

Linked Data

• MyVariant Identifiers: chr14:g.75472658C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75005955C>G , CM000676.2:g.75005955C>G	GRCh38
NC_000014.8:g.75472658C>G , CM000676.1:g.75472658C>G	GRCh37
NC_000014.7:g.74542411C>G	NCBI36
NG_013333.1:g.8047C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.687C>G MANE Select	ENSP00000266126.5:p.Val229=
ENST00000266126.9:c.687C>G	ENSP00000266126.5:p.Val229=
ENST00000553401.5:c.685C>G	ENSP00000451681.1:n.685C>G
ENST00000554748.2:c.51C>G	ENSP00000452582.2:p.Val17=
ENST00000556028.5:c.*35C>G	ENSP00000452311.1:n.*35C>G
NM_014239.3:c.687C>G	NP_055054.1:p.Val229=
NM_014239.4:c.687C>G MANE Select	NP_055054.1:p.Val229=