Canonical Allele Identifier: CA2625720916
Gene: EIF2B2 HGNC NCBI

Linked Data

gnomAD v4: 14-75005854-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005854C>A , CM000676.2:g.75005854C>A GRCh38
NC_000014.8:g.75472557C>A , CM000676.1:g.75472557C>A GRCh37
NC_000014.7:g.74542310C>A NCBI36
NG_013333.1:g.7946C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.598-12C>A MANE Select ENSP00000266126.5:n.598-12C>A
ENST00000266126.9:c.598-12C>A ENSP00000266126.5:n.598-12C>A
ENST00000553401.5:c.584C>A ENSP00000451681.1:p.Pro195His
ENST00000556028.5:c.598-43C>A ENSP00000452311.1:n.598-43C>A
NM_014239.3:c.598-12C>A NP_055054.1:n.598-12C>A
NM_014239.4:c.598-12C>A MANE Select NP_055054.1:n.598-12C>A
Search 100 bp 5'
Search 100 bp 3'