Canonical Allele Identifier: CA1425881569

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136734A= , CM000665.2:g.184136734A=	GRCh38
NC_000003.11:g.183854522A= , CM000665.1:g.183854522A=	GRCh37
NC_000003.10:g.185337216A=	NCBI36
NG_015826.1:g.6713A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.318A=	ENSP00000414775.1:p.Leu106=
ENST00000465218.3:n.341A=
ENST00000468748.7:n.301A=
ENST00000471832.2:c.*312A=	ENSP00000497786.1:n.*312A=
ENST00000484154.2:n.56A=
ENST00000491008.6:n.183A=
ENST00000492226.2:n.315A=
ENST00000492773.6:c.50A=
ENST00000647636.1:c.318A=	ENSP00000497505.1:p.Leu106=
ENST00000647909.1:c.318A=	ENSP00000498164.1:p.Leu106=
ENST00000648145.1:c.86A=
ENST00000648189.1:c.68A=
ENST00000648256.1:c.267A=	ENSP00000497356.1:p.Leu89=
ENST00000648314.1:c.318A=	ENSP00000496920.1:p.Leu106=
ENST00000648599.1:c.318A=	ENSP00000497159.1:p.Leu106=
ENST00000648630.1:c.312A=	ENSP00000497887.1:p.Leu104=
ENST00000648682.1:c.318A=	ENSP00000498185.1:p.Leu106=
ENST00000648882.1:c.*144A=	ENSP00000497603.1:n.*144A=
ENST00000648890.1:c.318A=	ENSP00000497503.1:p.Leu106=
ENST00000648915.2:c.318A= MANE Select	ENSP00000497160.1:p.Leu106=
ENST00000649545.1:c.52A=
ENST00000649688.1:c.318A=	ENSP00000497097.1:p.Leu106=
ENST00000649814.1:n.367A=
ENST00000650244.1:c.463A=	ENSP00000497227.1:n.463A=
ENST00000650270.1:c.185A=
ENST00000273783.7:c.318A=	ENSP00000273783.3:p.Leu106=
ENST00000432569.1:c.318A=	ENSP00000414775.1:p.Leu106=
ENST00000432982.5:c.245+59A=
ENST00000444495.1:c.318A=	ENSP00000409142.1:p.Leu106=
ENST00000471832.1:n.249A=
ENST00000481054.5:n.319A=
ENST00000491144.5:n.666A=
ENST00000498831.1:n.174A=
NM_003907.2:c.318A=	NP_003898.2:p.Leu106=
XR_924208.1:n.1269A=
NM_003907.3:c.318A= MANE Select	NP_003898.2:p.Leu106=
XM_011513266.3:c.-584A=	XP_011511568.1:n.-584A=
XR_001740352.2:n.681A=
XR_001740353.2:n.681A=
XR_924208.2:n.681A=