Canonical Allele Identifier: CA7275016
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs778871859
ExAC: 14:75472649 G / A
gnomAD v2: 14-75472649-G-A
MyVariant Identifiers: chr14:g.75472649G>A (hg19) chr14:g.75005946G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005946G>A , CM000676.2:g.75005946G>A GRCh38
NC_000014.8:g.75472649G>A , CM000676.1:g.75472649G>A GRCh37
NC_000014.7:g.74542402G>A NCBI36
NG_013333.1:g.8038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.678G>A MANE Select ENSP00000266126.5:p.Met226Ile
ENST00000266126.9:c.678G>A ENSP00000266126.5:p.Met226Ile
ENST00000553401.5:c.676G>A ENSP00000451681.1:n.676G>A
ENST00000554748.2:c.42G>A ENSP00000452582.2:p.Met14Ile
ENST00000556028.5:c.*26G>A ENSP00000452311.1:n.*26G>A
NM_014239.3:c.678G>A NP_055054.1:p.Met226Ile
NM_014239.4:c.678G>A MANE Select NP_055054.1:p.Met226Ile
Search 100 bp 5'
Search 100 bp 3'