Canonical Allele Identifier: CA2838244303
Gene: EIF2B2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75006674dup , CM000676.2:g.75006674dup GRCh38
NC_000014.8:g.75473377dup , CM000676.1:g.75473377dup GRCh37
NC_000014.7:g.74543130dup NCBI36
NG_013333.1:g.8766dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.791dup MANE Select ENSP00000266126.5:p.Leu265ThrfsTer17
ENST00000266126.9:c.791dup ENSP00000266126.5:p.Leu265ThrfsTer17
ENST00000553401.5:c.789dup ENSP00000451681.1:n.789dup
ENST00000554748.2:c.155dup ENSP00000452582.2:p.Leu53ThrfsTer26
ENST00000556028.5:c.*139dup ENSP00000452311.1:n.*139dup
ENST00000556668.1:n.371dup
NM_014239.3:c.791dup NP_055054.1:p.Leu265ThrfsTer17
NM_014239.4:c.791dup MANE Select NP_055054.1:p.Leu265ThrfsTer17
Search 100 bp 5'
Search 100 bp 3'