Canonical Allele Identifier: CA355382900
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184138186T>A , CM000665.2:g.184138186T>A GRCh38
NC_000003.11:g.183855974T>A , CM000665.1:g.183855974T>A GRCh37
NC_000003.10:g.185338668T>A NCBI36
NG_015826.1:g.8165T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.728T>A
ENST00000468748.7:n.688T>A
ENST00000484154.2:n.1326T>A
ENST00000491008.6:n.1453T>A
ENST00000492226.2:n.702T>A
ENST00000492773.6:c.459T>A
ENST00000647636.1:c.705T>A ENSP00000497505.1:p.Ser235Arg
ENST00000647909.1:c.729T>A ENSP00000498164.1:p.Ser243Arg
ENST00000648145.1:c.473T>A
ENST00000648189.1:c.455T>A
ENST00000648256.1:c.654T>A ENSP00000497356.1:p.Ser218Arg
ENST00000648314.1:c.705T>A ENSP00000496920.1:p.Ser235Arg
ENST00000648599.1:c.705T>A ENSP00000497159.1:p.Ser235Arg
ENST00000648630.1:c.699T>A ENSP00000497887.1:p.Ser233Arg
ENST00000648682.1:c.705T>A ENSP00000498185.1:p.Ser235Arg
ENST00000648882.1:c.*531T>A ENSP00000497603.1:n.*531T>A
ENST00000648890.1:c.705T>A ENSP00000497503.1:p.Ser235Arg
ENST00000648915.2:c.705T>A MANE Select ENSP00000497160.1:p.Ser235Arg
ENST00000649545.1:c.439T>A
ENST00000649688.1:c.705T>A ENSP00000497097.1:p.Ser235Arg
ENST00000649814.1:n.754T>A
ENST00000650270.1:c.572T>A
ENST00000273783.7:c.705T>A ENSP00000273783.3:p.Ser235Arg
ENST00000432982.5:c.245+1511T>A
ENST00000444495.1:c.705T>A ENSP00000409142.1:p.Ser235Arg
ENST00000468748.5:n.158T>A
ENST00000479833.1:n.21T>A
ENST00000481054.5:n.706T>A
ENST00000491008.5:n.669T>A
ENST00000491144.5:n.1145T>A
NM_003907.2:c.705T>A NP_003898.2:p.Ser235Arg
XR_924208.1:n.1656T>A
NM_003907.3:c.705T>A MANE Select NP_003898.2:p.Ser235Arg
XM_011513266.3:c.-197T>A XP_011511568.1:n.-197T>A
XR_001740352.2:n.1068T>A
XR_001740353.2:n.1068T>A
XR_924208.2:n.1068T>A