Canonical Allele Identifier: CA2575590220
Gene: EIF2B2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005808G>A , CM000676.2:g.75005808G>A GRCh38
NC_000014.8:g.75472511G>A , CM000676.1:g.75472511G>A GRCh37
NC_000014.7:g.74542264G>A NCBI36
NG_013333.1:g.7900G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.598-58G>A MANE Select ENSP00000266126.5:n.598-58G>A
ENST00000266126.9:c.598-58G>A ENSP00000266126.5:n.598-58G>A
ENST00000553401.5:c.571-33G>A ENSP00000451681.1:n.571-33G>A
ENST00000556028.5:c.598-89G>A ENSP00000452311.1:n.598-89G>A
NM_014239.3:c.598-58G>A NP_055054.1:n.598-58G>A
NM_014239.4:c.598-58G>A MANE Select NP_055054.1:n.598-58G>A
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