Canonical Allele Identifier: CA2625712234
Gene: EIF2B2 HGNC NCBI

Linked Data

gnomAD v4: 14-75003212-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003212C>A , CM000676.2:g.75003212C>A GRCh38
NC_000014.8:g.75469915C>A , CM000676.1:g.75469915C>A GRCh37
NC_000014.7:g.74539668C>A NCBI36
NG_013333.1:g.5304C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.163+59C>A MANE Select ENSP00000266126.5:n.163+59C>A
ENST00000266126.9:c.163+59C>A ENSP00000266126.5:n.163+59C>A
ENST00000553401.5:c.136+59C>A ENSP00000451681.1:n.136+59C>A
ENST00000553539.1:n.241C>A
ENST00000555522.1:n.221+59C>A
ENST00000556028.5:c.163+59C>A ENSP00000452311.1:n.163+59C>A
NM_014239.3:c.163+59C>A NP_055054.1:n.163+59C>A
NM_014239.4:c.163+59C>A MANE Select NP_055054.1:n.163+59C>A
Search 100 bp 5'
Search 100 bp 3'