Canonical Allele Identifier: CA1425883049

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138072T= , CM000665.2:g.184138072T=	GRCh38
NC_000003.11:g.183855860T= , CM000665.1:g.183855860T=	GRCh37
NC_000003.10:g.185338554T=	NCBI36
NG_015826.1:g.8051T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.704T=
ENST00000468748.7:n.664T=
ENST00000484154.2:n.1302T=
ENST00000491008.6:n.1429T=
ENST00000492226.2:n.678T=
ENST00000492773.6:c.413T=
ENST00000647636.1:c.681T=	ENSP00000497505.1:p.Pro227=
ENST00000647909.1:c.705T=	ENSP00000498164.1:p.Pro235=
ENST00000648145.1:c.449T=
ENST00000648189.1:c.431T=
ENST00000648256.1:c.630T=	ENSP00000497356.1:p.Pro210=
ENST00000648314.1:c.681T=	ENSP00000496920.1:p.Pro227=
ENST00000648599.1:c.681T=	ENSP00000497159.1:p.Pro227=
ENST00000648630.1:c.675T=	ENSP00000497887.1:p.Pro225=
ENST00000648682.1:c.681T=	ENSP00000498185.1:p.Pro227=
ENST00000648882.1:c.*507T=	ENSP00000497603.1:n.*507T=
ENST00000648890.1:c.681T=	ENSP00000497503.1:p.Pro227=
ENST00000648915.2:c.681T= MANE Select	ENSP00000497160.1:p.Pro227=
ENST00000649545.1:c.415T=
ENST00000649688.1:c.681T=	ENSP00000497097.1:p.Pro227=
ENST00000649814.1:n.730T=
ENST00000650270.1:c.548T=
ENST00000273783.7:c.681T=	ENSP00000273783.3:p.Pro227=
ENST00000432982.5:c.245+1397T=
ENST00000444495.1:c.681T=	ENSP00000409142.1:p.Pro227=
ENST00000468748.5:n.134T=
ENST00000481054.5:n.682T=
ENST00000491008.5:n.645T=
ENST00000491144.5:n.1121T=
NM_003907.2:c.681T=	NP_003898.2:p.Pro227=
XR_924208.1:n.1632T=
NM_003907.3:c.681T= MANE Select	NP_003898.2:p.Pro227=
XM_011513266.3:c.-221T=	XP_011511568.1:n.-221T=
XR_001740352.2:n.1044T=
XR_001740353.2:n.1044T=
XR_924208.2:n.1044T=