Canonical Allele Identifier: CA708572150
Gene: EIF2B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1549348
ClinVar RCV Id: RCV002182612
dbSNP Id: rs1348551300
gnomAD v3: 14-75003541-G-A
gnomAD v4: 14-75003541-G-A
MyVariant Identifiers: chr14:g.75470244G>A (hg19) chr14:g.75003541G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003541G>A , CM000676.2:g.75003541G>A GRCh38
NC_000014.8:g.75470244G>A , CM000676.1:g.75470244G>A GRCh37
NC_000014.7:g.74539997G>A NCBI36
NG_013333.1:g.5633G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.285-10G>A MANE Select ENSP00000266126.5:n.285-10G>A
ENST00000266126.9:c.285-10G>A ENSP00000266126.5:n.285-10G>A
ENST00000553401.5:c.258-10G>A ENSP00000451681.1:n.258-10G>A
ENST00000553539.1:n.570G>A
ENST00000555522.1:n.343-10G>A
ENST00000556028.5:c.285-10G>A ENSP00000452311.1:n.285-10G>A
NM_014239.3:c.285-10G>A NP_055054.1:n.285-10G>A
NM_014239.4:c.285-10G>A MANE Select NP_055054.1:n.285-10G>A
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