Canonical Allele Identifier: CA355384810
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184140455A>G , CM000665.2:g.184140455A>G GRCh38
NC_000003.11:g.183858243A>G , CM000665.1:g.183858243A>G GRCh37
NC_000003.10:g.185340937A>G NCBI36
NG_015826.1:g.10434A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000465218.3:n.904A>G
ENST00000468748.7:n.1124A>G
ENST00000484154.2:n.1387-1470A>G
ENST00000491008.6:n.1629A>G
ENST00000492226.2:n.1138A>G
ENST00000492773.6:c.635A>G
ENST00000647636.1:c.881A>G ENSP00000497505.1:p.Lys294Arg
ENST00000647909.1:c.905A>G ENSP00000498164.1:p.Lys302Arg
ENST00000648145.1:c.649A>G
ENST00000648189.1:c.695A>G
ENST00000648256.1:c.853A>G ENSP00000497356.1:n.853A>G
ENST00000648314.1:c.945A>G ENSP00000496920.1:p.Ter315=
ENST00000648599.1:c.*164A>G ENSP00000497159.1:n.*164A>G
ENST00000648630.1:c.875A>G ENSP00000497887.1:p.Lys292Arg
ENST00000648682.1:c.881A>G ENSP00000498185.1:p.Lys294Arg
ENST00000648882.1:c.*707A>G ENSP00000497603.1:n.*707A>G
ENST00000648890.1:c.881A>G ENSP00000497503.1:p.Lys294Arg
ENST00000648915.2:c.881A>G MANE Select ENSP00000497160.1:p.Lys294Arg
ENST00000649545.1:c.577+298A>G
ENST00000649688.1:c.*164A>G ENSP00000497097.1:n.*164A>G
ENST00000649814.1:n.930A>G
ENST00000650270.1:c.748A>G
ENST00000273783.7:c.881A>G ENSP00000273783.3:p.Lys294Arg
ENST00000432982.5:c.246-1782A>G
ENST00000444495.1:c.881A>G ENSP00000409142.1:p.Lys294Arg
ENST00000468748.5:n.594A>G
ENST00000479833.1:n.197A>G
ENST00000481054.5:n.975A>G
ENST00000491144.5:n.1385A>G
ENST00000493740.1:n.111A>G
NM_003907.2:c.881A>G NP_003898.2:p.Lys294Arg
XM_011513265.1:c.131A>G XP_011511567.1:p.Lys44Arg
XM_011513266.1:c.44A>G XP_011511568.1:p.Lys15Arg
XR_924208.1:n.1832A>G
NM_003907.3:c.881A>G MANE Select NP_003898.2:p.Lys294Arg
XM_011513266.3:c.44A>G XP_011511568.1:p.Lys15Arg
XR_001740352.2:n.1244A>G
XR_001740353.2:n.1244A>G
XR_924208.2:n.1244A>G