Canonical Allele Identifier: CA1425882733

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137793T= , CM000665.2:g.184137793T=	GRCh38
NC_000003.11:g.183855581T= , CM000665.1:g.183855581T=	GRCh37
NC_000003.10:g.185338275T=	NCBI36
NG_015826.1:g.7772T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.517T=
ENST00000468748.7:n.477T=
ENST00000484154.2:n.1115T=
ENST00000491008.6:n.1242T=
ENST00000492226.2:n.491T=
ENST00000492773.6:c.226T=
ENST00000647636.1:c.494T=	ENSP00000497505.1:p.Leu165=
ENST00000647909.1:c.494T=	ENSP00000498164.1:p.Leu165=
ENST00000648145.1:c.262T=
ENST00000648189.1:c.244T=
ENST00000648256.1:c.443T=	ENSP00000497356.1:p.Leu148=
ENST00000648314.1:c.494T=	ENSP00000496920.1:p.Leu165=
ENST00000648599.1:c.494T=	ENSP00000497159.1:p.Leu165=
ENST00000648630.1:c.488T=	ENSP00000497887.1:p.Leu163=
ENST00000648682.1:c.494T=	ENSP00000498185.1:p.Leu165=
ENST00000648882.1:c.*320T=	ENSP00000497603.1:n.*320T=
ENST00000648890.1:c.494T=	ENSP00000497503.1:p.Leu165=
ENST00000648915.2:c.494T= MANE Select	ENSP00000497160.1:p.Leu165=
ENST00000649545.1:c.228T=
ENST00000649688.1:c.494T=	ENSP00000497097.1:p.Leu165=
ENST00000649814.1:n.543T=
ENST00000650244.1:c.639T=	ENSP00000497227.1:n.639T=
ENST00000650270.1:c.361T=
ENST00000273783.7:c.494T=	ENSP00000273783.3:p.Leu165=
ENST00000432982.5:c.245+1118T=
ENST00000444495.1:c.494T=	ENSP00000409142.1:p.Leu165=
ENST00000481054.5:n.495T=
ENST00000491008.5:n.458T=
ENST00000491144.5:n.842T=
ENST00000498831.1:n.449T=
NM_003907.2:c.494T=	NP_003898.2:p.Leu165=
XR_924208.1:n.1445T=
NM_003907.3:c.494T= MANE Select	NP_003898.2:p.Leu165=
XM_011513266.3:c.-408T=	XP_011511568.1:n.-408T=
XR_001740352.2:n.857T=
XR_001740353.2:n.857T=
XR_924208.2:n.857T=