Canonical Allele Identifier: CA390430038
Gene: EIF2B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009046A>C , CM000676.2:g.75009046A>C GRCh38
NC_000014.8:g.75475749A>C , CM000676.1:g.75475749A>C GRCh37
NC_000014.7:g.74545502A>C NCBI36
NG_013333.1:g.11138A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.914A>C MANE Select ENSP00000266126.5:p.Lys305Thr
ENST00000266126.9:c.914A>C ENSP00000266126.5:p.Lys305Thr
ENST00000556668.1:n.494A>C
NM_014239.3:c.914A>C NP_055054.1:p.Lys305Thr
NM_014239.4:c.914A>C MANE Select NP_055054.1:p.Lys305Thr