Canonical Allele Identifier: CA1425883019

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138052C= , CM000665.2:g.184138052C=	GRCh38
NC_000003.11:g.183855840C= , CM000665.1:g.183855840C=	GRCh37
NC_000003.10:g.185338534C=	NCBI36
NG_015826.1:g.8031C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.684C=
ENST00000468748.7:n.644C=
ENST00000484154.2:n.1282C=
ENST00000491008.6:n.1409C=
ENST00000492226.2:n.658C=
ENST00000492773.6:c.393C=
ENST00000647636.1:c.661C=	ENSP00000497505.1:p.Leu221=
ENST00000647909.1:c.685C=	ENSP00000498164.1:p.Leu229=
ENST00000648145.1:c.429C=
ENST00000648189.1:c.411C=
ENST00000648256.1:c.610C=	ENSP00000497356.1:p.Leu204=
ENST00000648314.1:c.661C=	ENSP00000496920.1:p.Leu221=
ENST00000648599.1:c.661C=	ENSP00000497159.1:p.Leu221=
ENST00000648630.1:c.655C=	ENSP00000497887.1:p.Leu219=
ENST00000648682.1:c.661C=	ENSP00000498185.1:p.Leu221=
ENST00000648882.1:c.*487C=	ENSP00000497603.1:n.*487C=
ENST00000648890.1:c.661C=	ENSP00000497503.1:p.Leu221=
ENST00000648915.2:c.661C= MANE Select	ENSP00000497160.1:p.Leu221=
ENST00000649545.1:c.395C=
ENST00000649688.1:c.661C=	ENSP00000497097.1:p.Leu221=
ENST00000649814.1:n.710C=
ENST00000650270.1:c.528C=
ENST00000273783.7:c.661C=	ENSP00000273783.3:p.Leu221=
ENST00000432982.5:c.245+1377C=
ENST00000444495.1:c.661C=	ENSP00000409142.1:p.Leu221=
ENST00000468748.5:n.114C=
ENST00000481054.5:n.662C=
ENST00000491008.5:n.625C=
ENST00000491144.5:n.1101C=
NM_003907.2:c.661C=	NP_003898.2:p.Leu221=
XR_924208.1:n.1612C=
NM_003907.3:c.661C= MANE Select	NP_003898.2:p.Leu221=
XM_011513266.3:c.-241C=	XP_011511568.1:n.-241C=
XR_001740352.2:n.1024C=
XR_001740353.2:n.1024C=
XR_924208.2:n.1024C=