Canonical Allele Identifier: CA1425883016

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138049G= , CM000665.2:g.184138049G=	GRCh38
NC_000003.11:g.183855837G= , CM000665.1:g.183855837G=	GRCh37
NC_000003.10:g.185338531G=	NCBI36
NG_015826.1:g.8028G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.681G=
ENST00000468748.7:n.641G=
ENST00000484154.2:n.1279G=
ENST00000491008.6:n.1406G=
ENST00000492226.2:n.655G=
ENST00000492773.6:c.390G=
ENST00000647636.1:c.658G=	ENSP00000497505.1:p.Gly220=
ENST00000647909.1:c.682G=	ENSP00000498164.1:p.Gly228=
ENST00000648145.1:c.426G=
ENST00000648189.1:c.408G=
ENST00000648256.1:c.607G=	ENSP00000497356.1:p.Gly203=
ENST00000648314.1:c.658G=	ENSP00000496920.1:p.Gly220=
ENST00000648599.1:c.658G=	ENSP00000497159.1:p.Gly220=
ENST00000648630.1:c.652G=	ENSP00000497887.1:p.Gly218=
ENST00000648682.1:c.658G=	ENSP00000498185.1:p.Gly220=
ENST00000648882.1:c.*484G=	ENSP00000497603.1:n.*484G=
ENST00000648890.1:c.658G=	ENSP00000497503.1:p.Gly220=
ENST00000648915.2:c.658G= MANE Select	ENSP00000497160.1:p.Gly220=
ENST00000649545.1:c.392G=
ENST00000649688.1:c.658G=	ENSP00000497097.1:p.Gly220=
ENST00000649814.1:n.707G=
ENST00000650270.1:c.525G=
ENST00000273783.7:c.658G=	ENSP00000273783.3:p.Gly220=
ENST00000432982.5:c.245+1374G=
ENST00000444495.1:c.658G=	ENSP00000409142.1:p.Gly220=
ENST00000468748.5:n.111G=
ENST00000481054.5:n.659G=
ENST00000491008.5:n.622G=
ENST00000491144.5:n.1098G=
NM_003907.2:c.658G=	NP_003898.2:p.Gly220=
XR_924208.1:n.1609G=
NM_003907.3:c.658G= MANE Select	NP_003898.2:p.Gly220=
XM_011513266.3:c.-244G=	XP_011511568.1:n.-244G=
XR_001740352.2:n.1021G=
XR_001740353.2:n.1021G=
XR_924208.2:n.1021G=