Canonical Allele Identifier: CA390426874

Gene: EIF2B2

Linked Data

• MyVariant Identifiers: chr14:g.75472660A>T (hg19) ; chr14:g.75005957A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75005957A>T , CM000676.2:g.75005957A>T	GRCh38
NC_000014.8:g.75472660A>T , CM000676.1:g.75472660A>T	GRCh37
NC_000014.7:g.74542413A>T	NCBI36
NG_013333.1:g.8049A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.689A>T MANE Select	ENSP00000266126.5:p.Asn230Ile
ENST00000266126.9:c.689A>T	ENSP00000266126.5:p.Asn230Ile
ENST00000553401.5:c.687A>T	ENSP00000451681.1:n.687A>T
ENST00000554748.2:c.53A>T	ENSP00000452582.2:p.Asn18Ile
ENST00000556028.5:c.*37A>T	ENSP00000452311.1:n.*37A>T
NM_014239.3:c.689A>T	NP_055054.1:p.Asn230Ile
NM_014239.4:c.689A>T MANE Select	NP_055054.1:p.Asn230Ile