Canonical Allele Identifier: CA487178845
Gene: EIF2B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.75475798T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009095T>A , CM000676.2:g.75009095T>A GRCh38
NC_000014.8:g.75475798T>A , CM000676.1:g.75475798T>A GRCh37
NC_000014.7:g.74545551T>A NCBI36
NG_013333.1:g.11187T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.963T>A MANE Select ENSP00000266126.5:p.Ile321=
ENST00000266126.9:c.963T>A ENSP00000266126.5:p.Ile321=
ENST00000556668.1:n.543T>A
NM_014239.3:c.963T>A NP_055054.1:p.Ile321=
NM_014239.4:c.963T>A MANE Select NP_055054.1:p.Ile321=