Canonical Allele Identifier: CA437145247
Gene: EIF2B5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.183853230C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184135442C>G , CM000665.2:g.184135442C>G GRCh38
NC_000003.11:g.183853230C>G , CM000665.1:g.183853230C>G GRCh37
NC_000003.10:g.185335924C>G NCBI36
NG_015826.1:g.5421C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000432569.2:c.57C>G ENSP00000414775.1:p.Arg19=
ENST00000465218.3:n.80C>G
ENST00000468748.7:n.40C>G
ENST00000471832.2:c.57C>G ENSP00000497786.1:p.Arg19=
ENST00000492226.2:n.54C>G
ENST00000647636.1:c.57C>G ENSP00000497505.1:p.Arg19=
ENST00000647909.1:c.57C>G ENSP00000498164.1:p.Arg19=
ENST00000648256.1:c.6C>G ENSP00000497356.1:p.Arg2=
ENST00000648314.1:c.57C>G ENSP00000496920.1:p.Arg19=
ENST00000648599.1:c.57C>G ENSP00000497159.1:p.Arg19=
ENST00000648630.1:c.51C>G ENSP00000497887.1:p.Arg17=
ENST00000648682.1:c.57C>G ENSP00000498185.1:p.Arg19=
ENST00000648882.1:c.57C>G ENSP00000497603.1:p.Arg19=
ENST00000648890.1:c.57C>G ENSP00000497503.1:p.Arg19=
ENST00000648915.2:c.57C>G MANE Select ENSP00000497160.1:p.Arg19=
ENST00000649688.1:c.57C>G ENSP00000497097.1:p.Arg19=
ENST00000649814.1:n.106C>G
ENST00000273783.7:c.57C>G ENSP00000273783.3:p.Arg19=
ENST00000432569.1:c.57C>G ENSP00000414775.1:p.Arg19=
ENST00000432982.5:c.43C>G
ENST00000444495.1:c.57C>G ENSP00000409142.1:p.Arg19=
ENST00000481054.5:n.58C>G
ENST00000491144.5:n.405C>G
NM_003907.2:c.57C>G NP_003898.2:p.Arg19=
XR_924208.1:n.1008C>G
NM_003907.3:c.57C>G MANE Select NP_003898.2:p.Arg19=
XM_011513266.3:c.-845C>G XP_011511568.1:n.-845C>G
XR_001740352.2:n.420C>G
XR_001740353.2:n.420C>G
XR_924208.2:n.420C>G