Canonical Allele Identifier: CA487272793
Gene: EIF2B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.75470078T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003375T>A , CM000676.2:g.75003375T>A GRCh38
NC_000014.8:g.75470078T>A , CM000676.1:g.75470078T>A GRCh37
NC_000014.7:g.74539831T>A NCBI36
NG_013333.1:g.5467T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.264T>A MANE Select ENSP00000266126.5:p.Ile88=
ENST00000266126.9:c.264T>A ENSP00000266126.5:p.Ile88=
ENST00000553401.5:c.237T>A ENSP00000451681.1:p.Ile79=
ENST00000553539.1:n.404T>A
ENST00000555522.1:n.322T>A
ENST00000556028.5:c.264T>A ENSP00000452311.1:p.Ile88=
NM_014239.3:c.264T>A NP_055054.1:p.Ile88=
NM_014239.4:c.264T>A MANE Select NP_055054.1:p.Ile88=