Canonical Allele Identifier: CA1425882633
Gene: EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137737T= , CM000665.2:g.184137737T= GRCh38
NC_000003.11:g.183855525T= , CM000665.1:g.183855525T= GRCh37
NC_000003.10:g.185338219T= NCBI36
NG_015826.1:g.7716T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.461T=
ENST00000468748.7:n.421T=
ENST00000484154.2:n.1059T=
ENST00000491008.6:n.1186T=
ENST00000492226.2:n.435T=
ENST00000492773.6:c.170T=
ENST00000647636.1:c.438T= ENSP00000497505.1:p.Ser146=
ENST00000647909.1:c.438T= ENSP00000498164.1:p.Ser146=
ENST00000648145.1:c.206T=
ENST00000648189.1:c.188T=
ENST00000648256.1:c.387T= ENSP00000497356.1:p.Ser129=
ENST00000648314.1:c.438T= ENSP00000496920.1:p.Ser146=
ENST00000648599.1:c.438T= ENSP00000497159.1:p.Ser146=
ENST00000648630.1:c.432T= ENSP00000497887.1:p.Ser144=
ENST00000648682.1:c.438T= ENSP00000498185.1:p.Ser146=
ENST00000648882.1:c.*264T= ENSP00000497603.1:n.*264T=
ENST00000648890.1:c.438T= ENSP00000497503.1:p.Ser146=
ENST00000648915.2:c.438T= MANE Select ENSP00000497160.1:p.Ser146=
ENST00000649545.1:c.172T=
ENST00000649688.1:c.438T= ENSP00000497097.1:p.Ser146=
ENST00000649814.1:n.487T=
ENST00000650244.1:c.583T= ENSP00000497227.1:n.583T=
ENST00000650270.1:c.305T=
ENST00000273783.7:c.438T= ENSP00000273783.3:p.Ser146=
ENST00000432982.5:c.245+1062T=
ENST00000444495.1:c.438T= ENSP00000409142.1:p.Ser146=
ENST00000481054.5:n.439T=
ENST00000491008.5:n.402T=
ENST00000491144.5:n.786T=
ENST00000498831.1:n.393T=
NM_003907.2:c.438T= NP_003898.2:p.Ser146=
XR_924208.1:n.1389T=
NM_003907.3:c.438T= MANE Select NP_003898.2:p.Ser146=
XM_011513266.3:c.-464T= XP_011511568.1:n.-464T=
XR_001740352.2:n.801T=
XR_001740353.2:n.801T=
XR_924208.2:n.801T=