Canonical Allele Identifier: CA2625720876
Gene: EIF2B2 HGNC NCBI

Linked Data

gnomAD v4: 14-75005833-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005833T>C , CM000676.2:g.75005833T>C GRCh38
NC_000014.8:g.75472536T>C , CM000676.1:g.75472536T>C GRCh37
NC_000014.7:g.74542289T>C NCBI36
NG_013333.1:g.7925T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.598-33T>C MANE Select ENSP00000266126.5:n.598-33T>C
ENST00000266126.9:c.598-33T>C ENSP00000266126.5:n.598-33T>C
ENST00000553401.5:c.571-8T>C ENSP00000451681.1:n.571-8T>C
ENST00000556028.5:c.598-64T>C ENSP00000452311.1:n.598-64T>C
NM_014239.3:c.598-33T>C NP_055054.1:n.598-33T>C
NM_014239.4:c.598-33T>C MANE Select NP_055054.1:n.598-33T>C
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