Canonical Allele Identifier: CA1425882847

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137906G= , CM000665.2:g.184137906G=	GRCh38
NC_000003.11:g.183855694G= , CM000665.1:g.183855694G=	GRCh37
NC_000003.10:g.185338388G=	NCBI36
NG_015826.1:g.7885G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.538G=
ENST00000468748.7:n.498G=
ENST00000484154.2:n.1136G=
ENST00000491008.6:n.1263G=
ENST00000492226.2:n.512G=
ENST00000492773.6:c.247G=
ENST00000647636.1:c.515G=	ENSP00000497505.1:p.Arg172=
ENST00000647909.1:c.539G=	ENSP00000498164.1:p.Arg180=
ENST00000648145.1:c.283G=
ENST00000648189.1:c.265G=
ENST00000648256.1:c.464G=	ENSP00000497356.1:p.Arg155=
ENST00000648314.1:c.515G=	ENSP00000496920.1:p.Arg172=
ENST00000648599.1:c.515G=	ENSP00000497159.1:p.Arg172=
ENST00000648630.1:c.509G=	ENSP00000497887.1:p.Arg170=
ENST00000648682.1:c.515G=	ENSP00000498185.1:p.Arg172=
ENST00000648882.1:c.*341G=	ENSP00000497603.1:n.*341G=
ENST00000648890.1:c.515G=	ENSP00000497503.1:p.Arg172=
ENST00000648915.2:c.515G= MANE Select	ENSP00000497160.1:p.Arg172=
ENST00000649545.1:c.249G=
ENST00000649688.1:c.515G=	ENSP00000497097.1:p.Arg172=
ENST00000649814.1:n.564G=
ENST00000650244.1:c.660G=	ENSP00000497227.1:n.660G=
ENST00000650270.1:c.382G=
ENST00000273783.7:c.515G=	ENSP00000273783.3:p.Arg172=
ENST00000432982.5:c.245+1231G=
ENST00000444495.1:c.515G=	ENSP00000409142.1:p.Arg172=
ENST00000481054.5:n.516G=
ENST00000491008.5:n.479G=
ENST00000491144.5:n.955G=
ENST00000498831.1:n.470G=
NM_003907.2:c.515G=	NP_003898.2:p.Arg172=
XR_924208.1:n.1466G=
NM_003907.3:c.515G= MANE Select	NP_003898.2:p.Arg172=
XM_011513266.3:c.-387G=	XP_011511568.1:n.-387G=
XR_001740352.2:n.878G=
XR_001740353.2:n.878G=
XR_924208.2:n.878G=