Canonical Allele Identifier: CA2575590217
Gene: EIF2B2 HGNC NCBI

Linked Data

gnomAD v4: 14-75005781-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005781A>G , CM000676.2:g.75005781A>G GRCh38
NC_000014.8:g.75472484A>G , CM000676.1:g.75472484A>G GRCh37
NC_000014.7:g.74542237A>G NCBI36
NG_013333.1:g.7873A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.598-85A>G MANE Select ENSP00000266126.5:n.598-85A>G
ENST00000266126.9:c.598-85A>G ENSP00000266126.5:n.598-85A>G
ENST00000553401.5:c.571-60A>G ENSP00000451681.1:n.571-60A>G
ENST00000556028.5:c.598-116A>G ENSP00000452311.1:n.598-116A>G
NM_014239.3:c.598-85A>G NP_055054.1:n.598-85A>G
NM_014239.4:c.598-85A>G MANE Select NP_055054.1:n.598-85A>G
Search 100 bp 5'
Search 100 bp 3'