Canonical Allele Identifier: CA355382134
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137905C>G , CM000665.2:g.184137905C>G GRCh38
NC_000003.11:g.183855693C>G , CM000665.1:g.183855693C>G GRCh37
NC_000003.10:g.185338387C>G NCBI36
NG_015826.1:g.7884C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.537C>G
ENST00000468748.7:n.497C>G
ENST00000484154.2:n.1135C>G
ENST00000491008.6:n.1262C>G
ENST00000492226.2:n.511C>G
ENST00000492773.6:c.246C>G
ENST00000647636.1:c.514C>G ENSP00000497505.1:p.Arg172Gly
ENST00000647909.1:c.538C>G ENSP00000498164.1:p.Arg180Gly
ENST00000648145.1:c.282C>G
ENST00000648189.1:c.264C>G
ENST00000648256.1:c.463C>G ENSP00000497356.1:p.Arg155Gly
ENST00000648314.1:c.514C>G ENSP00000496920.1:p.Arg172Gly
ENST00000648599.1:c.514C>G ENSP00000497159.1:p.Arg172Gly
ENST00000648630.1:c.508C>G ENSP00000497887.1:p.Arg170Gly
ENST00000648682.1:c.514C>G ENSP00000498185.1:p.Arg172Gly
ENST00000648882.1:c.*340C>G ENSP00000497603.1:n.*340C>G
ENST00000648890.1:c.514C>G ENSP00000497503.1:p.Arg172Gly
ENST00000648915.2:c.514C>G MANE Select ENSP00000497160.1:p.Arg172Gly
ENST00000649545.1:c.248C>G
ENST00000649688.1:c.514C>G ENSP00000497097.1:p.Arg172Gly
ENST00000649814.1:n.563C>G
ENST00000650244.1:c.659C>G ENSP00000497227.1:n.659C>G
ENST00000650270.1:c.381C>G
ENST00000273783.7:c.514C>G ENSP00000273783.3:p.Arg172Gly
ENST00000432982.5:c.245+1230C>G
ENST00000444495.1:c.514C>G ENSP00000409142.1:p.Arg172Gly
ENST00000481054.5:n.515C>G
ENST00000491008.5:n.478C>G
ENST00000491144.5:n.954C>G
ENST00000498831.1:n.469C>G
NM_003907.2:c.514C>G NP_003898.2:p.Arg172Gly
XR_924208.1:n.1465C>G
NM_003907.3:c.514C>G MANE Select NP_003898.2:p.Arg172Gly
XM_011513266.3:c.-388C>G XP_011511568.1:n.-388C>G
XR_001740352.2:n.877C>G
XR_001740353.2:n.877C>G
XR_924208.2:n.877C>G