Canonical Allele Identifier: CA116769
Gene: EIF2B2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4336
dbSNP Id: rs104894425

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005906A>G , CM000676.2:g.75005906A>G GRCh38
NC_000014.8:g.75472609A>G , CM000676.1:g.75472609A>G GRCh37
NC_000014.7:g.74542362A>G NCBI36
NG_013333.1:g.7998A>G

Transcript Alleles

HGVS Amino-acid change
NM_014239.3:c.638A>G VV NP_055054.1:p.Glu213Gly
ENST00000266126.9:c.638A>G ENSP00000266126.5:p.Glu213Gly
ENST00000553401.5:n.636A>G ENSP00000451681.1:p.=
ENST00000554748.2:n.2A>G
ENST00000556028.5:c.607A>G ENSP00000452311.1:p.Arg203Gly