Canonical Allele Identifier: CA2147299509
Gene: EIF2B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75006030C= , CM000676.2:g.75006030C= GRCh38
NC_000014.8:g.75472733C= , CM000676.1:g.75472733C= GRCh37
NC_000014.7:g.74542486C= NCBI36
NG_013333.1:g.8122C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.693+69C= MANE Select ENSP00000266126.5:n.693+69C=
ENST00000266126.9:c.693+69C= ENSP00000266126.5:n.693+69C=
ENST00000553401.5:c.691+69C= ENSP00000451681.1:n.691+69C=
ENST00000554748.2:c.57+69C= ENSP00000452582.2:n.57+69C=
ENST00000556028.5:c.*41+69C= ENSP00000452311.1:n.*41+69C=
NM_014239.3:c.693+69C= NP_055054.1:n.693+69C=
NM_014239.4:c.693+69C= MANE Select NP_055054.1:n.693+69C=