Canonical Allele Identifier: CA2147298366
Gene: EIF2B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2880218
ClinVar RCV Id: RCV003713192
dbSNP Id: rs769894290
gnomAD v4: 14-75003532-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003532G>T , CM000676.2:g.75003532G>T GRCh38
NC_000014.8:g.75470235G>T , CM000676.1:g.75470235G>T GRCh37
NC_000014.7:g.74539988G>T NCBI36
NG_013333.1:g.5624G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.285-19G>T MANE Select ENSP00000266126.5:n.285-19G>T
ENST00000266126.9:c.285-19G>T ENSP00000266126.5:n.285-19G>T
ENST00000553401.5:c.258-19G>T ENSP00000451681.1:n.258-19G>T
ENST00000553539.1:n.561G>T
ENST00000555522.1:n.343-19G>T
ENST00000556028.5:c.285-19G>T ENSP00000452311.1:n.285-19G>T
NM_014239.3:c.285-19G>T NP_055054.1:n.285-19G>T
NM_014239.4:c.285-19G>T MANE Select NP_055054.1:n.285-19G>T
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