Canonical Allele Identifier: CA390424255
Gene: EIF2B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003559G>T , CM000676.2:g.75003559G>T GRCh38
NC_000014.8:g.75470262G>T , CM000676.1:g.75470262G>T GRCh37
NC_000014.7:g.74540015G>T NCBI36
NG_013333.1:g.5651G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.293G>T MANE Select ENSP00000266126.5:p.Gly98Val
ENST00000266126.9:c.293G>T ENSP00000266126.5:p.Gly98Val
ENST00000553401.5:c.266G>T ENSP00000451681.1:p.Gly89Val
ENST00000553539.1:n.588G>T
ENST00000555522.1:n.351G>T
ENST00000556028.5:c.293G>T ENSP00000452311.1:p.Gly98Val
NM_014239.3:c.293G>T NP_055054.1:p.Gly98Val
NM_014239.4:c.293G>T MANE Select NP_055054.1:p.Gly98Val