Canonical Allele Identifier: CA355381669
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184136723A>C , CM000665.2:g.184136723A>C GRCh38
NC_000003.11:g.183854511A>C , CM000665.1:g.183854511A>C GRCh37
NC_000003.10:g.185337205A>C NCBI36
NG_015826.1:g.6702A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432569.2:c.307A>C ENSP00000414775.1:p.Lys103Gln
ENST00000465218.3:n.330A>C
ENST00000468748.7:n.290A>C
ENST00000471832.2:c.*301A>C ENSP00000497786.1:n.*301A>C
ENST00000484154.2:n.45A>C
ENST00000491008.6:n.172A>C
ENST00000492226.2:n.304A>C
ENST00000492773.6:c.39A>C
ENST00000647636.1:c.307A>C ENSP00000497505.1:p.Lys103Gln
ENST00000647909.1:c.307A>C ENSP00000498164.1:p.Lys103Gln
ENST00000648145.1:c.75A>C
ENST00000648189.1:c.57A>C
ENST00000648256.1:c.256A>C ENSP00000497356.1:p.Lys86Gln
ENST00000648314.1:c.307A>C ENSP00000496920.1:p.Lys103Gln
ENST00000648599.1:c.307A>C ENSP00000497159.1:p.Lys103Gln
ENST00000648630.1:c.301A>C ENSP00000497887.1:p.Lys101Gln
ENST00000648682.1:c.307A>C ENSP00000498185.1:p.Lys103Gln
ENST00000648882.1:c.*133A>C ENSP00000497603.1:n.*133A>C
ENST00000648890.1:c.307A>C ENSP00000497503.1:p.Lys103Gln
ENST00000648915.2:c.307A>C MANE Select ENSP00000497160.1:p.Lys103Gln
ENST00000649545.1:c.41A>C
ENST00000649688.1:c.307A>C ENSP00000497097.1:p.Lys103Gln
ENST00000649814.1:n.356A>C
ENST00000650244.1:c.452A>C ENSP00000497227.1:n.452A>C
ENST00000650270.1:c.174A>C
ENST00000273783.7:c.307A>C ENSP00000273783.3:p.Lys103Gln
ENST00000432569.1:c.307A>C ENSP00000414775.1:p.Lys103Gln
ENST00000432982.5:c.245+48A>C
ENST00000444495.1:c.307A>C ENSP00000409142.1:p.Lys103Gln
ENST00000471832.1:n.238A>C
ENST00000481054.5:n.308A>C
ENST00000491144.5:n.655A>C
ENST00000498831.1:n.163A>C
NM_003907.2:c.307A>C NP_003898.2:p.Lys103Gln
XR_924208.1:n.1258A>C
NM_003907.3:c.307A>C MANE Select NP_003898.2:p.Lys103Gln
XM_011513266.3:c.-595A>C XP_011511568.1:n.-595A>C
XR_001740352.2:n.670A>C
XR_001740353.2:n.670A>C
XR_924208.2:n.670A>C