Canonical Allele Identifier: CA2147300721
Gene: EIF2B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009042_75009045delinsGAGA , CM000676.2:g.75009042_75009045delinsGAGA GRCh38
NC_000014.8:g.75475745_75475748delinsGAGA , CM000676.1:g.75475745_75475748delinsGAGA GRCh37
NC_000014.7:g.74545498_74545501delinsGAGA NCBI36
NG_013333.1:g.11134_11137delinsGAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.910_913delinsGAGA MANE Select ENSP00000266126.5:p.Glu304=
ENST00000266126.9:c.910_913delinsGAGA ENSP00000266126.5:p.Glu304=
ENST00000556668.1:n.490_493delinsGAGA
NM_014239.3:c.910_913delinsGAGA NP_055054.1:p.Glu304=
NM_014239.4:c.910_913delinsGAGA MANE Select NP_055054.1:p.Glu304=