Canonical Allele Identifier: CA390425834
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs1889602732
MyVariant Identifiers: chr14:g.75471494A>G (hg19) chr14:g.75004791A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75004791A>G , CM000676.2:g.75004791A>G GRCh38
NC_000014.8:g.75471494A>G , CM000676.1:g.75471494A>G GRCh37
NC_000014.7:g.74541247A>G NCBI36
NG_013333.1:g.6883A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.488A>G MANE Select ENSP00000266126.5:p.Glu163Gly
ENST00000266126.9:c.488A>G ENSP00000266126.5:p.Glu163Gly
ENST00000553401.5:c.461A>G ENSP00000451681.1:p.Glu154Gly
ENST00000553539.1:n.783A>G
ENST00000555522.1:n.546A>G
ENST00000556028.5:c.488A>G ENSP00000452311.1:p.Glu163Gly
NM_014239.3:c.488A>G NP_055054.1:p.Glu163Gly
NM_014239.4:c.488A>G MANE Select NP_055054.1:p.Glu163Gly
Search 100 bp 5'
Search 100 bp 3'