Canonical Allele Identifier: CA355381865
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137694G>A , CM000665.2:g.184137694G>A GRCh38
NC_000003.11:g.183855482G>A , CM000665.1:g.183855482G>A GRCh37
NC_000003.10:g.185338176G>A NCBI36
NG_015826.1:g.7673G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.418G>A
ENST00000468748.7:n.378G>A
ENST00000484154.2:n.1016G>A
ENST00000491008.6:n.1143G>A
ENST00000492226.2:n.392G>A
ENST00000492773.6:c.127G>A
ENST00000647636.1:c.395G>A ENSP00000497505.1:p.Gly132Glu
ENST00000647909.1:c.395G>A ENSP00000498164.1:p.Gly132Glu
ENST00000648145.1:c.163G>A
ENST00000648189.1:c.145G>A
ENST00000648256.1:c.344G>A ENSP00000497356.1:p.Gly115Glu
ENST00000648314.1:c.395G>A ENSP00000496920.1:p.Gly132Glu
ENST00000648599.1:c.395G>A ENSP00000497159.1:p.Gly132Glu
ENST00000648630.1:c.389G>A ENSP00000497887.1:p.Gly130Glu
ENST00000648682.1:c.395G>A ENSP00000498185.1:p.Gly132Glu
ENST00000648882.1:c.*221G>A ENSP00000497603.1:n.*221G>A
ENST00000648890.1:c.395G>A ENSP00000497503.1:p.Gly132Glu
ENST00000648915.2:c.395G>A MANE Select ENSP00000497160.1:p.Gly132Glu
ENST00000649545.1:c.129G>A
ENST00000649688.1:c.395G>A ENSP00000497097.1:p.Gly132Glu
ENST00000649814.1:n.444G>A
ENST00000650244.1:c.540G>A ENSP00000497227.1:n.540G>A
ENST00000650270.1:c.262G>A
ENST00000273783.7:c.395G>A ENSP00000273783.3:p.Gly132Glu
ENST00000432982.5:c.245+1019G>A
ENST00000444495.1:c.395G>A ENSP00000409142.1:p.Gly132Glu
ENST00000481054.5:n.396G>A
ENST00000491008.5:n.359G>A
ENST00000491144.5:n.743G>A
ENST00000498831.1:n.350G>A
NM_003907.2:c.395G>A NP_003898.2:p.Gly132Glu
XR_924208.1:n.1346G>A
NM_003907.3:c.395G>A MANE Select NP_003898.2:p.Gly132Glu
XM_011513266.3:c.-507G>A XP_011511568.1:n.-507G>A
XR_001740352.2:n.758G>A
XR_001740353.2:n.758G>A
XR_924208.2:n.758G>A