Canonical Allele Identifier: CA355382245
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137954C>A , CM000665.2:g.184137954C>A GRCh38
NC_000003.11:g.183855742C>A , CM000665.1:g.183855742C>A GRCh37
NC_000003.10:g.185338436C>A NCBI36
NG_015826.1:g.7933C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.586C>A
ENST00000468748.7:n.546C>A
ENST00000484154.2:n.1184C>A
ENST00000491008.6:n.1311C>A
ENST00000492226.2:n.560C>A
ENST00000492773.6:c.295C>A
ENST00000647636.1:c.563C>A ENSP00000497505.1:p.Ser188Ter
ENST00000647909.1:c.587C>A ENSP00000498164.1:p.Ser196Ter
ENST00000648145.1:c.331C>A
ENST00000648189.1:c.313C>A
ENST00000648256.1:c.512C>A ENSP00000497356.1:p.Ser171Ter
ENST00000648314.1:c.563C>A ENSP00000496920.1:p.Ser188Ter
ENST00000648599.1:c.563C>A ENSP00000497159.1:p.Ser188Ter
ENST00000648630.1:c.557C>A ENSP00000497887.1:p.Ser186Ter
ENST00000648682.1:c.563C>A ENSP00000498185.1:p.Ser188Ter
ENST00000648882.1:c.*389C>A ENSP00000497603.1:n.*389C>A
ENST00000648890.1:c.563C>A ENSP00000497503.1:p.Ser188Ter
ENST00000648915.2:c.563C>A MANE Select ENSP00000497160.1:p.Ser188Ter
ENST00000649545.1:c.297C>A
ENST00000649688.1:c.563C>A ENSP00000497097.1:p.Ser188Ter
ENST00000649814.1:n.612C>A
ENST00000650270.1:c.430C>A
ENST00000273783.7:c.563C>A ENSP00000273783.3:p.Ser188Ter
ENST00000432982.5:c.245+1279C>A
ENST00000444495.1:c.563C>A ENSP00000409142.1:p.Ser188Ter
ENST00000468748.5:n.16C>A
ENST00000481054.5:n.564C>A
ENST00000491008.5:n.527C>A
ENST00000491144.5:n.1003C>A
ENST00000498831.1:n.518C>A
NM_003907.2:c.563C>A NP_003898.2:p.Ser188Ter
XR_924208.1:n.1514C>A
NM_003907.3:c.563C>A MANE Select NP_003898.2:p.Ser188Ter
XM_011513266.3:c.-339C>A XP_011511568.1:n.-339C>A
XR_001740352.2:n.926C>A
XR_001740353.2:n.926C>A
XR_924208.2:n.926C>A