Canonical Allele Identifier: CA1425880265
Gene: EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184135562C= , CM000665.2:g.184135562C= GRCh38
NC_000003.11:g.183853350C= , CM000665.1:g.183853350C= GRCh37
NC_000003.10:g.185336044C= NCBI36
NG_015826.1:g.5541C=

Transcript Alleles

HGVS Amino-acid change
ENST00000432569.2:c.177C= ENSP00000414775.1:p.Ile59=
ENST00000465218.3:n.200C=
ENST00000468748.7:n.160C=
ENST00000471832.2:c.177C= ENSP00000497786.1:p.Ile59=
ENST00000491008.6:n.42C=
ENST00000492226.2:n.174C=
ENST00000647636.1:c.177C= ENSP00000497505.1:p.Ile59=
ENST00000647909.1:c.177C= ENSP00000498164.1:p.Ile59=
ENST00000648256.1:c.126C= ENSP00000497356.1:p.Ile42=
ENST00000648314.1:c.177C= ENSP00000496920.1:p.Ile59=
ENST00000648599.1:c.177C= ENSP00000497159.1:p.Ile59=
ENST00000648630.1:c.171C= ENSP00000497887.1:p.Ile57=
ENST00000648682.1:c.177C= ENSP00000498185.1:p.Ile59=
ENST00000648882.1:c.177C= ENSP00000497603.1:p.Ile59=
ENST00000648890.1:c.177C= ENSP00000497503.1:p.Ile59=
ENST00000648915.2:c.177C= MANE Select ENSP00000497160.1:p.Ile59=
ENST00000649688.1:c.177C= ENSP00000497097.1:p.Ile59=
ENST00000649814.1:n.226C=
ENST00000650244.1:c.69C= ENSP00000497227.1:p.Ile23=
ENST00000650270.1:c.44C=
ENST00000273783.7:c.177C= ENSP00000273783.3:p.Ile59=
ENST00000432569.1:c.177C= ENSP00000414775.1:p.Ile59=
ENST00000432982.5:c.163C=
ENST00000444495.1:c.177C= ENSP00000409142.1:p.Ile59=
ENST00000481054.5:n.178C=
ENST00000491144.5:n.525C=
NM_003907.2:c.177C= NP_003898.2:p.Ile59=
XR_924208.1:n.1128C=
NM_003907.3:c.177C= MANE Select NP_003898.2:p.Ile59=
XM_011513266.3:c.-725C= XP_011511568.1:n.-725C=
XR_001740352.2:n.540C=
XR_001740353.2:n.540C=
XR_924208.2:n.540C=