Canonical Allele Identifier: CA2068931464
Gene: EIF2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123630317G= , CM000674.2:g.123630317G= GRCh38
NC_000012.11:g.124114864G= , CM000674.1:g.124114864G= GRCh37
NC_000012.10:g.122680817G= NCBI36
NG_015862.1:g.8460C=

Transcript Alleles

HGVS Amino-acid change
ENST00000424014.7:c.253-32C= MANE Select ENSP00000416250.2:n.253-32C=
ENST00000424014.6:c.253-32C= ENSP00000416250.2:n.253-32C=
ENST00000452159.6:n.384-32C=
ENST00000534960.5:c.300-32C=
ENST00000537073.1:c.253-32C= ENSP00000444183.1:n.253-32C=
ENST00000539951.5:c.214-32C= ENSP00000438060.1:n.214-32C=
ENST00000543940.1:n.353-13C=
NM_001414.3:c.253-32C= NP_001405.1:n.253-32C=
NM_001414.4:c.253-32C= MANE Select NP_001405.1:n.253-32C=