Canonical Allele Identifier: CA487178839
Gene: EIF2B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.75475786C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009083C>T , CM000676.2:g.75009083C>T GRCh38
NC_000014.8:g.75475786C>T , CM000676.1:g.75475786C>T GRCh37
NC_000014.7:g.74545539C>T NCBI36
NG_013333.1:g.11175C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.951C>T MANE Select ENSP00000266126.5:p.Pro317=
ENST00000266126.9:c.951C>T ENSP00000266126.5:p.Pro317=
ENST00000556668.1:n.531C>T
NM_014239.3:c.951C>T NP_055054.1:p.Pro317=
NM_014239.4:c.951C>T MANE Select NP_055054.1:p.Pro317=