Canonical Allele Identifier: CA263656859
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs372548739
gnomAD v2: 14-75475757-G-C
gnomAD v3: 14-75009054-G-C
gnomAD v4: 14-75009054-G-C
MyVariant Identifiers: chr14:g.75475757G>C (hg19) chr14:g.75009054G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009054G>C , CM000676.2:g.75009054G>C GRCh38
NC_000014.8:g.75475757G>C , CM000676.1:g.75475757G>C GRCh37
NC_000014.7:g.74545510G>C NCBI36
NG_013333.1:g.11146G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.922G>C MANE Select ENSP00000266126.5:p.Val308Leu
ENST00000266126.9:c.922G>C ENSP00000266126.5:p.Val308Leu
ENST00000556668.1:n.502G>C
NM_014239.3:c.922G>C NP_055054.1:p.Val308Leu
NM_014239.4:c.922G>C MANE Select NP_055054.1:p.Val308Leu
Search 100 bp 5'
Search 100 bp 3'