Canonical Allele Identifier: CA390430099
Gene: EIF2B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1305451
ClinVar RCV Id: RCV001768658
dbSNP Id: rs372548739
MyVariant Identifiers: chr14:g.75475757G>T (hg19) chr14:g.75009054G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.922G>T MANE Select ENSP00000266126.5:p.Val308Leu
ENST00000266126.9:c.922G>T ENSP00000266126.5:p.Val308Leu
ENST00000556668.1:n.502G>T
NM_014239.3:c.922G>T NP_055054.1:p.Val308Leu
NM_014239.4:c.922G>T MANE Select NP_055054.1:p.Val308Leu
Search 100 bp 5'
Search 100 bp 3'