Canonical Allele Identifier: CA2147299481
Gene: EIF2B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005962G= , CM000676.2:g.75005962G= GRCh38
NC_000014.8:g.75472665G= , CM000676.1:g.75472665G= GRCh37
NC_000014.7:g.74542418G= NCBI36
NG_013333.1:g.8054G=

Transcript Alleles

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