Canonical Allele Identifier: CA390425861
Gene: EIF2B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.75471500T>A (hg19) chr14:g.75004797T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75004797T>A , CM000676.2:g.75004797T>A GRCh38
NC_000014.8:g.75471500T>A , CM000676.1:g.75471500T>A GRCh37
NC_000014.7:g.74541253T>A NCBI36
NG_013333.1:g.6889T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.494T>A MANE Select ENSP00000266126.5:p.Ile165Asn
ENST00000266126.9:c.494T>A ENSP00000266126.5:p.Ile165Asn
ENST00000553401.5:c.467T>A ENSP00000451681.1:p.Ile156Asn
ENST00000553539.1:n.789T>A
ENST00000555522.1:n.552T>A
ENST00000556028.5:c.494T>A ENSP00000452311.1:p.Ile165Asn
NM_014239.3:c.494T>A NP_055054.1:p.Ile165Asn
NM_014239.4:c.494T>A MANE Select NP_055054.1:p.Ile165Asn
Search 100 bp 5'
Search 100 bp 3'