Canonical Allele Identifier: CA355382205
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137939T>A , CM000665.2:g.184137939T>A GRCh38
NC_000003.11:g.183855727T>A , CM000665.1:g.183855727T>A GRCh37
NC_000003.10:g.185338421T>A NCBI36
NG_015826.1:g.7918T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.571T>A
ENST00000468748.7:n.531T>A
ENST00000484154.2:n.1169T>A
ENST00000491008.6:n.1296T>A
ENST00000492226.2:n.545T>A
ENST00000492773.6:c.280T>A
ENST00000647636.1:c.548T>A ENSP00000497505.1:p.Met183Lys
ENST00000647909.1:c.572T>A ENSP00000498164.1:p.Met191Lys
ENST00000648145.1:c.316T>A
ENST00000648189.1:c.298T>A
ENST00000648256.1:c.497T>A ENSP00000497356.1:p.Met166Lys
ENST00000648314.1:c.548T>A ENSP00000496920.1:p.Met183Lys
ENST00000648599.1:c.548T>A ENSP00000497159.1:p.Met183Lys
ENST00000648630.1:c.542T>A ENSP00000497887.1:p.Met181Lys
ENST00000648682.1:c.548T>A ENSP00000498185.1:p.Met183Lys
ENST00000648882.1:c.*374T>A ENSP00000497603.1:n.*374T>A
ENST00000648890.1:c.548T>A ENSP00000497503.1:p.Met183Lys
ENST00000648915.2:c.548T>A MANE Select ENSP00000497160.1:p.Met183Lys
ENST00000649545.1:c.282T>A
ENST00000649688.1:c.548T>A ENSP00000497097.1:p.Met183Lys
ENST00000649814.1:n.597T>A
ENST00000650244.1:c.693T>A ENSP00000497227.1:n.693T>A
ENST00000650270.1:c.415T>A
ENST00000273783.7:c.548T>A ENSP00000273783.3:p.Met183Lys
ENST00000432982.5:c.245+1264T>A
ENST00000444495.1:c.548T>A ENSP00000409142.1:p.Met183Lys
ENST00000468748.5:n.1T>A
ENST00000481054.5:n.549T>A
ENST00000491008.5:n.512T>A
ENST00000491144.5:n.988T>A
ENST00000498831.1:n.503T>A
NM_003907.2:c.548T>A NP_003898.2:p.Met183Lys
XR_924208.1:n.1499T>A
NM_003907.3:c.548T>A MANE Select NP_003898.2:p.Met183Lys
XM_011513266.3:c.-354T>A XP_011511568.1:n.-354T>A
XR_001740352.2:n.911T>A
XR_001740353.2:n.911T>A
XR_924208.2:n.911T>A