Canonical Allele Identifier: CA2625712879
Gene: EIF2B2 HGNC NCBI

Linked Data

gnomAD v4: 14-75003479-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003479A>C , CM000676.2:g.75003479A>C GRCh38
NC_000014.8:g.75470182A>C , CM000676.1:g.75470182A>C GRCh37
NC_000014.7:g.74539935A>C NCBI36
NG_013333.1:g.5571A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.285-72A>C MANE Select ENSP00000266126.5:n.285-72A>C
ENST00000266126.9:c.285-72A>C ENSP00000266126.5:n.285-72A>C
ENST00000553401.5:c.258-72A>C ENSP00000451681.1:n.258-72A>C
ENST00000553539.1:n.508A>C
ENST00000555522.1:n.343-72A>C
ENST00000556028.5:c.285-72A>C ENSP00000452311.1:n.285-72A>C
NM_014239.3:c.285-72A>C NP_055054.1:n.285-72A>C
NM_014239.4:c.285-72A>C MANE Select NP_055054.1:n.285-72A>C
Search 100 bp 5'
Search 100 bp 3'