Canonical Allele Identifier: CA1425883014

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138046C= , CM000665.2:g.184138046C=	GRCh38
NC_000003.11:g.183855834C= , CM000665.1:g.183855834C=	GRCh37
NC_000003.10:g.185338528C=	NCBI36
NG_015826.1:g.8025C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.678C=
ENST00000468748.7:n.638C=
ENST00000484154.2:n.1276C=
ENST00000491008.6:n.1403C=
ENST00000492226.2:n.652C=
ENST00000492773.6:c.387C=
ENST00000647636.1:c.655C=	ENSP00000497505.1:p.Gln219=
ENST00000647909.1:c.679C=	ENSP00000498164.1:p.Gln227=
ENST00000648145.1:c.423C=
ENST00000648189.1:c.405C=
ENST00000648256.1:c.604C=	ENSP00000497356.1:p.Gln202=
ENST00000648314.1:c.655C=	ENSP00000496920.1:p.Gln219=
ENST00000648599.1:c.655C=	ENSP00000497159.1:p.Gln219=
ENST00000648630.1:c.649C=	ENSP00000497887.1:p.Gln217=
ENST00000648682.1:c.655C=	ENSP00000498185.1:p.Gln219=
ENST00000648882.1:c.*481C=	ENSP00000497603.1:n.*481C=
ENST00000648890.1:c.655C=	ENSP00000497503.1:p.Gln219=
ENST00000648915.2:c.655C= MANE Select	ENSP00000497160.1:p.Gln219=
ENST00000649545.1:c.389C=
ENST00000649688.1:c.655C=	ENSP00000497097.1:p.Gln219=
ENST00000649814.1:n.704C=
ENST00000650270.1:c.522C=
ENST00000273783.7:c.655C=	ENSP00000273783.3:p.Gln219=
ENST00000432982.5:c.245+1371C=
ENST00000444495.1:c.655C=	ENSP00000409142.1:p.Gln219=
ENST00000468748.5:n.108C=
ENST00000481054.5:n.656C=
ENST00000491008.5:n.619C=
ENST00000491144.5:n.1095C=
NM_003907.2:c.655C=	NP_003898.2:p.Gln219=
XR_924208.1:n.1606C=
NM_003907.3:c.655C= MANE Select	NP_003898.2:p.Gln219=
XM_011513266.3:c.-247C=	XP_011511568.1:n.-247C=
XR_001740352.2:n.1018C=
XR_001740353.2:n.1018C=
XR_924208.2:n.1018C=