Canonical Allele Identifier: CA390430470
Gene: EIF2B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.75475794T>A (hg19) chr14:g.75009091T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009091T>A , CM000676.2:g.75009091T>A GRCh38
NC_000014.8:g.75475794T>A , CM000676.1:g.75475794T>A GRCh37
NC_000014.7:g.74545547T>A NCBI36
NG_013333.1:g.11183T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.959T>A MANE Select ENSP00000266126.5:p.Leu320His
ENST00000266126.9:c.959T>A ENSP00000266126.5:p.Leu320His
ENST00000556668.1:n.539T>A
NM_014239.3:c.959T>A NP_055054.1:p.Leu320His
NM_014239.4:c.959T>A MANE Select NP_055054.1:p.Leu320His
Search 100 bp 5'
Search 100 bp 3'