Canonical Allele Identifier: CA2625720656
Gene: EIF2B2 HGNC NCBI

Linked Data

gnomAD v4: 14-75005728-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005728G>T , CM000676.2:g.75005728G>T GRCh38
NC_000014.8:g.75472431G>T , CM000676.1:g.75472431G>T GRCh37
NC_000014.7:g.74542184G>T NCBI36
NG_013333.1:g.7820G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.598-138G>T MANE Select ENSP00000266126.5:n.598-138G>T
ENST00000266126.9:c.598-138G>T ENSP00000266126.5:n.598-138G>T
ENST00000553401.5:c.571-113G>T ENSP00000451681.1:n.571-113G>T
ENST00000556028.5:c.598-169G>T ENSP00000452311.1:n.598-169G>T
NM_014239.3:c.598-138G>T NP_055054.1:n.598-138G>T
NM_014239.4:c.598-138G>T MANE Select NP_055054.1:n.598-138G>T
Search 100 bp 5'
Search 100 bp 3'