Canonical Allele Identifier: CA390430488
Gene: EIF2B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009094T>C , CM000676.2:g.75009094T>C GRCh38
NC_000014.8:g.75475797T>C , CM000676.1:g.75475797T>C GRCh37
NC_000014.7:g.74545550T>C NCBI36
NG_013333.1:g.11186T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.962T>C MANE Select ENSP00000266126.5:p.Ile321Thr
ENST00000266126.9:c.962T>C ENSP00000266126.5:p.Ile321Thr
ENST00000556668.1:n.542T>C
NM_014239.3:c.962T>C NP_055054.1:p.Ile321Thr
NM_014239.4:c.962T>C MANE Select NP_055054.1:p.Ile321Thr