Canonical Allele Identifier: CA10640945
Gene: EIF2B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 314328
ClinVar RCV Id: RCV000348608
dbSNP Id: rs200557826
gnomAD v2: 14-75469634-A-G
gnomAD v3: 14-75002931-A-G
gnomAD v4: 14-75002931-A-G
MyVariant Identifiers: chr14:g.75469634A>G (hg19) chr14:g.75002931A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75002931A>G , CM000676.2:g.75002931A>G GRCh38
NC_000014.8:g.75469634A>G , CM000676.1:g.75469634A>G GRCh37
NC_000014.7:g.74539387A>G NCBI36
NG_013333.1:g.5023A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.-60A>G MANE Select ENSP00000266126.5:n.-60A>G
ENST00000266126.9:c.-60A>G ENSP00000266126.5:n.-60A>G
NM_014239.3:c.-60A>G NP_055054.1:n.-60A>G
NM_014239.4:c.-60A>G MANE Select NP_055054.1:n.-60A>G
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