Canonical Allele Identifier: CA340166
Gene: EIF2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4124
dbSNP Id: rs113994007

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123624792T>A , CM000674.2:g.123624792T>A GRCh38
NC_000012.11:g.124109339T>A , CM000674.1:g.124109339T>A GRCh37
NC_000012.10:g.122675292T>A NCBI36
NG_015862.1:g.13985A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000424014.7:c.622A>T MANE Select ENSP00000416250.2:p.Asn208Tyr
ENST00000424014.6:c.622A>T ENSP00000416250.2:p.Asn208Tyr
ENST00000534960.5:c.487A>T
ENST00000539951.5:c.512+1633A>T ENSP00000438060.1:n.512+1633A>T
NM_001414.3:c.622A>T NP_001405.1:p.Asn208Tyr
NM_001414.4:c.622A>T MANE Select NP_001405.1:p.Asn208Tyr