Canonical Allele Identifier: CA2147299442
Gene: EIF2B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2833499
ClinVar RCV Id: RCV003692014
dbSNP Id: rs1889619161
gnomAD v4: 14-75005858-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005858C>T , CM000676.2:g.75005858C>T GRCh38
NC_000014.8:g.75472561C>T , CM000676.1:g.75472561C>T GRCh37
NC_000014.7:g.74542314C>T NCBI36
NG_013333.1:g.7950C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.598-8C>T MANE Select ENSP00000266126.5:n.598-8C>T
ENST00000266126.9:c.598-8C>T ENSP00000266126.5:n.598-8C>T
ENST00000553401.5:c.588C>T ENSP00000451681.1:p.Pro196=
ENST00000556028.5:c.598-39C>T ENSP00000452311.1:n.598-39C>T
NM_014239.3:c.598-8C>T NP_055054.1:n.598-8C>T
NM_014239.4:c.598-8C>T MANE Select NP_055054.1:n.598-8C>T
Search 100 bp 5'
Search 100 bp 3'