Canonical Allele Identifier: CA2068931453
Gene: EIF2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123630312G= , CM000674.2:g.123630312G= GRCh38
NC_000012.11:g.124114859G= , CM000674.1:g.124114859G= GRCh37
NC_000012.10:g.122680812G= NCBI36
NG_015862.1:g.8465C=

Transcript Alleles

HGVS Amino-acid change
ENST00000424014.7:c.253-27C= MANE Select ENSP00000416250.2:n.253-27C=
ENST00000424014.6:c.253-27C= ENSP00000416250.2:n.253-27C=
ENST00000452159.6:n.384-27C=
ENST00000534960.5:c.300-27C=
ENST00000537073.1:c.253-27C= ENSP00000444183.1:n.253-27C=
ENST00000539951.5:c.214-27C= ENSP00000438060.1:n.214-27C=
ENST00000543940.1:n.353-8C=
NM_001414.3:c.253-27C= NP_001405.1:n.253-27C=
NM_001414.4:c.253-27C= MANE Select NP_001405.1:n.253-27C=