Canonical Allele Identifier: CA2832561752
Gene: EIF2B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005717dup , CM000676.2:g.75005717dup GRCh38
NC_000014.8:g.75472420dup , CM000676.1:g.75472420dup GRCh37
NC_000014.7:g.74542173dup NCBI36
NG_013333.1:g.7809dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.598-149dup MANE Select ENSP00000266126.5:n.598-149dup
ENST00000266126.9:c.598-149dup ENSP00000266126.5:n.598-149dup
ENST00000553401.5:c.571-124dup ENSP00000451681.1:n.571-124dup
ENST00000556028.5:c.598-180dup ENSP00000452311.1:n.598-180dup
NM_014239.3:c.598-149dup NP_055054.1:n.598-149dup
NM_014239.4:c.598-149dup MANE Select NP_055054.1:n.598-149dup