Canonical Allele Identifier: CA390430084
Gene: EIF2B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009052G>A , CM000676.2:g.75009052G>A GRCh38
NC_000014.8:g.75475755G>A , CM000676.1:g.75475755G>A GRCh37
NC_000014.7:g.74545508G>A NCBI36
NG_013333.1:g.11144G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.920G>A MANE Select ENSP00000266126.5:p.Ser307Asn
ENST00000266126.9:c.920G>A ENSP00000266126.5:p.Ser307Asn
ENST00000556668.1:n.500G>A
NM_014239.3:c.920G>A NP_055054.1:p.Ser307Asn
NM_014239.4:c.920G>A MANE Select NP_055054.1:p.Ser307Asn