Canonical Allele Identifier: CA390424235
Gene: EIF2B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003555C>A , CM000676.2:g.75003555C>A GRCh38
NC_000014.8:g.75470258C>A , CM000676.1:g.75470258C>A GRCh37
NC_000014.7:g.74540011C>A NCBI36
NG_013333.1:g.5647C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.289C>A MANE Select ENSP00000266126.5:p.His97Asn
ENST00000266126.9:c.289C>A ENSP00000266126.5:p.His97Asn
ENST00000553401.5:c.262C>A ENSP00000451681.1:p.His88Asn
ENST00000553539.1:n.584C>A
ENST00000555522.1:n.347C>A
ENST00000556028.5:c.289C>A ENSP00000452311.1:p.His97Asn
NM_014239.3:c.289C>A NP_055054.1:p.His97Asn
NM_014239.4:c.289C>A MANE Select NP_055054.1:p.His97Asn