Canonical Allele Identifier: CA1425881431

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136619T= , CM000665.2:g.184136619T=	GRCh38
NC_000003.11:g.183854407T= , CM000665.1:g.183854407T=	GRCh37
NC_000003.10:g.185337101T=	NCBI36
NG_015826.1:g.6598T=

Transcript Alleles

HGVS	Amino-acid Change
NM_003907.3:c.203T= MANE Select	NP_003898.2:p.Leu68=
ENST00000648915.2:c.203T= MANE Select	ENSP00000497160.1:p.Leu68=
NM_003907.2:c.203T=	NP_003898.2:p.Leu68=
ENST00000273783.7:c.203T=	ENSP00000273783.3:p.Leu68=
ENST00000432569.1:c.203T=	ENSP00000414775.1:p.Leu68=
ENST00000432569.2:c.203T=	ENSP00000414775.1:p.Leu68=
ENST00000432982.5:c.189T=
ENST00000444495.1:c.203T=	ENSP00000409142.1:p.Leu68=
ENST00000465218.3:n.226T=
ENST00000468748.7:n.186T=
ENST00000471832.1:n.134T=
ENST00000471832.2:c.*197T=	ENSP00000497786.1:n.*197T=
ENST00000481054.5:n.204T=
ENST00000491008.6:n.68T=
ENST00000491144.5:n.551T=
ENST00000492226.2:n.200T=
ENST00000498831.1:n.59T=
ENST00000647636.1:c.203T=	ENSP00000497505.1:p.Leu68=
ENST00000647909.1:c.203T=	ENSP00000498164.1:p.Leu68=
ENST00000648256.1:c.152T=	ENSP00000497356.1:p.Leu51=
ENST00000648314.1:c.203T=	ENSP00000496920.1:p.Leu68=
ENST00000648599.1:c.203T=	ENSP00000497159.1:p.Leu68=
ENST00000648630.1:c.197T=	ENSP00000497887.1:p.Leu66=
ENST00000648682.1:c.203T=	ENSP00000498185.1:p.Leu68=
ENST00000648882.1:c.*29T=	ENSP00000497603.1:n.*29T=
ENST00000648890.1:c.203T=	ENSP00000497503.1:p.Leu68=
ENST00000649688.1:c.203T=	ENSP00000497097.1:p.Leu68=
ENST00000649814.1:n.252T=
ENST00000650244.1:c.348T=	ENSP00000497227.1:n.348T=
ENST00000650270.1:c.70T=
XM_011513266.3:c.-699T=	XP_011511568.1:n.-699T=
XR_001740352.2:n.566T=
XR_001740353.2:n.566T=
XR_924208.1:n.1154T=
XR_924208.2:n.566T=