Canonical Allele Identifier: CA2625721348
Gene: EIF2B2 HGNC NCBI

Linked Data

gnomAD v4: 14-75006074-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75006074A>C , CM000676.2:g.75006074A>C GRCh38
NC_000014.8:g.75472777A>C , CM000676.1:g.75472777A>C GRCh37
NC_000014.7:g.74542530A>C NCBI36
NG_013333.1:g.8166A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.693+113A>C MANE Select ENSP00000266126.5:n.693+113A>C
ENST00000266126.9:c.693+113A>C ENSP00000266126.5:n.693+113A>C
ENST00000553401.5:c.691+113A>C ENSP00000451681.1:n.691+113A>C
ENST00000554748.2:c.57+113A>C ENSP00000452582.2:n.57+113A>C
ENST00000556028.5:c.*41+113A>C ENSP00000452311.1:n.*41+113A>C
NM_014239.3:c.693+113A>C NP_055054.1:n.693+113A>C
NM_014239.4:c.693+113A>C MANE Select NP_055054.1:n.693+113A>C
Search 100 bp 5'
Search 100 bp 3'