Canonical Allele Identifier: CA1425887866

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142516G= , CM000665.2:g.184142516G=	GRCh38
NC_000003.11:g.183860304G= , CM000665.1:g.183860304G=	GRCh37
NC_000003.10:g.185342998G=	NCBI36
NG_015826.1:g.12495G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1482G=
ENST00000468748.7:n.1702G=
ENST00000484154.2:n.1689G=
ENST00000491008.6:n.2223G=
ENST00000492226.2:n.1726G=
ENST00000492773.6:c.1213G=
ENST00000647636.1:c.*308G=	ENSP00000497505.1:n.*308G=
ENST00000647909.1:c.1483G=	ENSP00000498164.1:p.Glu495=
ENST00000648145.1:c.1231G=
ENST00000648189.1:c.1293G=
ENST00000648256.1:c.1431G=	ENSP00000497356.1:n.1431G=
ENST00000648314.1:c.*578G=	ENSP00000496920.1:n.*578G=
ENST00000648599.1:c.*742G=	ENSP00000497159.1:n.*742G=
ENST00000648630.1:c.1338G=	ENSP00000497887.1:n.1338G=
ENST00000648682.1:c.*299G=	ENSP00000498185.1:n.*299G=
ENST00000648882.1:c.*1285G=	ENSP00000497603.1:n.*1285G=
ENST00000648890.1:c.1475G=	ENSP00000497503.1:p.Arg492=
ENST00000648915.2:c.1459G= MANE Select	ENSP00000497160.1:p.Glu487=
ENST00000649545.1:c.819G=
ENST00000649688.1:c.*752G=	ENSP00000497097.1:n.*752G=
ENST00000649814.1:n.1524G=
ENST00000650270.1:c.1326G=
ENST00000273783.7:c.1459G=	ENSP00000273783.3:p.Glu487=
ENST00000432982.5:c.402G=
ENST00000444495.1:c.1459G=	ENSP00000409142.1:p.Glu487=
ENST00000479250.1:n.286G=
ENST00000481054.5:n.1553G=
ENST00000491144.5:n.1963G=
ENST00000492773.5:n.358G=
NM_003907.2:c.1459G=	NP_003898.2:p.Glu487=
XM_011513265.1:c.709G=	XP_011511567.1:p.Glu237=
XM_011513266.1:c.622G=	XP_011511568.1:p.Glu208=
XR_924208.1:n.2426G=
NM_003907.3:c.1459G= MANE Select	NP_003898.2:p.Glu487=
XM_011513266.3:c.622G=	XP_011511568.1:p.Glu208=
XR_001740352.2:n.1822G=
XR_001740353.2:n.1838G=
XR_924208.2:n.1838G=