Canonical Allele Identifier: CA1425883010

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138037C= , CM000665.2:g.184138037C=	GRCh38
NC_000003.11:g.183855825C= , CM000665.1:g.183855825C=	GRCh37
NC_000003.10:g.185338519C=	NCBI36
NG_015826.1:g.8016C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.669C=
ENST00000468748.7:n.629C=
ENST00000484154.2:n.1267C=
ENST00000491008.6:n.1394C=
ENST00000492226.2:n.643C=
ENST00000492773.6:c.378C=
ENST00000647636.1:c.646C=	ENSP00000497505.1:p.Gln216=
ENST00000647909.1:c.670C=	ENSP00000498164.1:p.Gln224=
ENST00000648145.1:c.414C=
ENST00000648189.1:c.396C=
ENST00000648256.1:c.595C=	ENSP00000497356.1:p.Gln199=
ENST00000648314.1:c.646C=	ENSP00000496920.1:p.Gln216=
ENST00000648599.1:c.646C=	ENSP00000497159.1:p.Gln216=
ENST00000648630.1:c.640C=	ENSP00000497887.1:p.Gln214=
ENST00000648682.1:c.646C=	ENSP00000498185.1:p.Gln216=
ENST00000648882.1:c.*472C=	ENSP00000497603.1:n.*472C=
ENST00000648890.1:c.646C=	ENSP00000497503.1:p.Gln216=
ENST00000648915.2:c.646C= MANE Select	ENSP00000497160.1:p.Gln216=
ENST00000649545.1:c.380C=
ENST00000649688.1:c.646C=	ENSP00000497097.1:p.Gln216=
ENST00000649814.1:n.695C=
ENST00000650270.1:c.513C=
ENST00000273783.7:c.646C=	ENSP00000273783.3:p.Gln216=
ENST00000432982.5:c.245+1362C=
ENST00000444495.1:c.646C=	ENSP00000409142.1:p.Gln216=
ENST00000468748.5:n.99C=
ENST00000481054.5:n.647C=
ENST00000491008.5:n.610C=
ENST00000491144.5:n.1086C=
NM_003907.2:c.646C=	NP_003898.2:p.Gln216=
XR_924208.1:n.1597C=
NM_003907.3:c.646C= MANE Select	NP_003898.2:p.Gln216=
XM_011513266.3:c.-256C=	XP_011511568.1:n.-256C=
XR_001740352.2:n.1009C=
XR_001740353.2:n.1009C=
XR_924208.2:n.1009C=