Canonical Allele Identifier: CA263653654
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs967630584
gnomAD v3: 14-75003491-C-G
gnomAD v4: 14-75003491-C-G
MyVariant Identifiers: chr14:g.75470194C>G (hg19) chr14:g.75003491C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003491C>G , CM000676.2:g.75003491C>G GRCh38
NC_000014.8:g.75470194C>G , CM000676.1:g.75470194C>G GRCh37
NC_000014.7:g.74539947C>G NCBI36
NG_013333.1:g.5583C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.285-60C>G MANE Select ENSP00000266126.5:n.285-60C>G
ENST00000266126.9:c.285-60C>G ENSP00000266126.5:n.285-60C>G
ENST00000553401.5:c.258-60C>G ENSP00000451681.1:n.258-60C>G
ENST00000553539.1:n.520C>G
ENST00000555522.1:n.343-60C>G
ENST00000556028.5:c.285-60C>G ENSP00000452311.1:n.285-60C>G
NM_014239.3:c.285-60C>G NP_055054.1:n.285-60C>G
NM_014239.4:c.285-60C>G MANE Select NP_055054.1:n.285-60C>G
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