Canonical Allele Identifier: CA390430031
Gene: EIF2B2 HGNC NCBI

Linked Data

gnomAD v4: 14-75009045-A-G
MyVariant Identifiers: chr14:g.75475748A>G (hg19) chr14:g.75009045A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009045A>G , CM000676.2:g.75009045A>G GRCh38
NC_000014.8:g.75475748A>G , CM000676.1:g.75475748A>G GRCh37
NC_000014.7:g.74545501A>G NCBI36
NG_013333.1:g.11137A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.913A>G MANE Select ENSP00000266126.5:p.Lys305Glu
ENST00000266126.9:c.913A>G ENSP00000266126.5:p.Lys305Glu
ENST00000556668.1:n.493A>G
NM_014239.3:c.913A>G NP_055054.1:p.Lys305Glu
NM_014239.4:c.913A>G MANE Select NP_055054.1:p.Lys305Glu
Search 100 bp 5'
Search 100 bp 3'