Canonical Allele Identifier: CA2577974780

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137885C>G , CM000665.2:g.184137885C>G	GRCh38
NC_000003.11:g.183855673C>G , CM000665.1:g.183855673C>G	GRCh37
NC_000003.10:g.185338367C>G	NCBI36
NG_015826.1:g.7864C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.530-13C>G
ENST00000468748.7:n.490-13C>G
ENST00000484154.2:n.1128-13C>G
ENST00000491008.6:n.1255-13C>G
ENST00000492226.2:n.504-13C>G
ENST00000492773.6:c.239-13C>G
ENST00000647636.1:c.507-13C>G	ENSP00000497505.1:n.507-13C>G
ENST00000647909.1:c.518C>G	ENSP00000498164.1:p.Pro173Arg
ENST00000648145.1:c.275-13C>G
ENST00000648189.1:c.257-13C>G
ENST00000648256.1:c.456-13C>G	ENSP00000497356.1:n.456-13C>G
ENST00000648314.1:c.507-13C>G	ENSP00000496920.1:n.507-13C>G
ENST00000648599.1:c.507-13C>G	ENSP00000497159.1:n.507-13C>G
ENST00000648630.1:c.501-13C>G	ENSP00000497887.1:n.501-13C>G
ENST00000648682.1:c.507-13C>G	ENSP00000498185.1:n.507-13C>G
ENST00000648882.1:c.*333-13C>G	ENSP00000497603.1:n.*333-13C>G
ENST00000648890.1:c.507-13C>G	ENSP00000497503.1:n.507-13C>G
ENST00000648915.2:c.507-13C>G MANE Select	ENSP00000497160.1:n.507-13C>G
ENST00000649545.1:c.241-13C>G
ENST00000649688.1:c.507-13C>G	ENSP00000497097.1:n.507-13C>G
ENST00000649814.1:n.556-13C>G
ENST00000650244.1:c.652-13C>G	ENSP00000497227.1:n.652-13C>G
ENST00000650270.1:c.374-13C>G
ENST00000273783.7:c.507-13C>G	ENSP00000273783.3:n.507-13C>G
ENST00000432982.5:c.245+1210C>G
ENST00000444495.1:c.507-13C>G	ENSP00000409142.1:n.507-13C>G
ENST00000481054.5:n.508-13C>G
ENST00000491008.5:n.471-13C>G
ENST00000491144.5:n.934C>G
ENST00000498831.1:n.462-13C>G
NM_003907.2:c.507-13C>G	NP_003898.2:n.507-13C>G
XR_924208.1:n.1458-13C>G
NM_003907.3:c.507-13C>G MANE Select	NP_003898.2:n.507-13C>G
XM_011513266.3:c.-395-13C>G	XP_011511568.1:n.-395-13C>G
XR_001740352.2:n.870-13C>G
XR_001740353.2:n.870-13C>G
XR_924208.2:n.870-13C>G