Canonical Allele Identifier: CA1425882592

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137714G= , CM000665.2:g.184137714G=	GRCh38
NC_000003.11:g.183855502G= , CM000665.1:g.183855502G=	GRCh37
NC_000003.10:g.185338196G=	NCBI36
NG_015826.1:g.7693G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.438G=
ENST00000468748.7:n.398G=
ENST00000484154.2:n.1036G=
ENST00000491008.6:n.1163G=
ENST00000492226.2:n.412G=
ENST00000492773.6:c.147G=
ENST00000647636.1:c.415G=	ENSP00000497505.1:p.Asp139=
ENST00000647909.1:c.415G=	ENSP00000498164.1:p.Asp139=
ENST00000648145.1:c.183G=
ENST00000648189.1:c.165G=
ENST00000648256.1:c.364G=	ENSP00000497356.1:p.Asp122=
ENST00000648314.1:c.415G=	ENSP00000496920.1:p.Asp139=
ENST00000648599.1:c.415G=	ENSP00000497159.1:p.Asp139=
ENST00000648630.1:c.409G=	ENSP00000497887.1:p.Asp137=
ENST00000648682.1:c.415G=	ENSP00000498185.1:p.Asp139=
ENST00000648882.1:c.*241G=	ENSP00000497603.1:n.*241G=
ENST00000648890.1:c.415G=	ENSP00000497503.1:p.Asp139=
ENST00000648915.2:c.415G= MANE Select	ENSP00000497160.1:p.Asp139=
ENST00000649545.1:c.149G=
ENST00000649688.1:c.415G=	ENSP00000497097.1:p.Asp139=
ENST00000649814.1:n.464G=
ENST00000650244.1:c.560G=	ENSP00000497227.1:n.560G=
ENST00000650270.1:c.282G=
ENST00000273783.7:c.415G=	ENSP00000273783.3:p.Asp139=
ENST00000432982.5:c.245+1039G=
ENST00000444495.1:c.415G=	ENSP00000409142.1:p.Asp139=
ENST00000481054.5:n.416G=
ENST00000491008.5:n.379G=
ENST00000491144.5:n.763G=
ENST00000498831.1:n.370G=
NM_003907.2:c.415G=	NP_003898.2:p.Asp139=
XR_924208.1:n.1366G=
NM_003907.3:c.415G= MANE Select	NP_003898.2:p.Asp139=
XM_011513266.3:c.-487G=	XP_011511568.1:n.-487G=
XR_001740352.2:n.778G=
XR_001740353.2:n.778G=
XR_924208.2:n.778G=