Canonical Allele Identifier: CA1425881455

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136636G= , CM000665.2:g.184136636G=	GRCh38
NC_000003.11:g.183854424G= , CM000665.1:g.183854424G=	GRCh37
NC_000003.10:g.185337118G=	NCBI36
NG_015826.1:g.6615G=

Transcript Alleles

HGVS	Amino-acid Change
NM_003907.3:c.220G= MANE Select	NP_003898.2:p.Ala74=
ENST00000648915.2:c.220G= MANE Select	ENSP00000497160.1:p.Ala74=
NM_003907.2:c.220G=	NP_003898.2:p.Ala74=
ENST00000273783.7:c.220G=	ENSP00000273783.3:p.Ala74=
ENST00000432569.1:c.220G=	ENSP00000414775.1:p.Ala74=
ENST00000432569.2:c.220G=	ENSP00000414775.1:p.Ala74=
ENST00000432982.5:c.206G=
ENST00000444495.1:c.220G=	ENSP00000409142.1:p.Ala74=
ENST00000465218.3:n.243G=
ENST00000468748.7:n.203G=
ENST00000471832.1:n.151G=
ENST00000471832.2:c.*214G=	ENSP00000497786.1:n.*214G=
ENST00000481054.5:n.221G=
ENST00000491008.6:n.85G=
ENST00000491144.5:n.568G=
ENST00000492226.2:n.217G=
ENST00000498831.1:n.76G=
ENST00000647636.1:c.220G=	ENSP00000497505.1:p.Ala74=
ENST00000647909.1:c.220G=	ENSP00000498164.1:p.Ala74=
ENST00000648256.1:c.169G=	ENSP00000497356.1:p.Ala57=
ENST00000648314.1:c.220G=	ENSP00000496920.1:p.Ala74=
ENST00000648599.1:c.220G=	ENSP00000497159.1:p.Ala74=
ENST00000648630.1:c.214G=	ENSP00000497887.1:p.Ala72=
ENST00000648682.1:c.220G=	ENSP00000498185.1:p.Ala74=
ENST00000648882.1:c.*46G=	ENSP00000497603.1:n.*46G=
ENST00000648890.1:c.220G=	ENSP00000497503.1:p.Ala74=
ENST00000649688.1:c.220G=	ENSP00000497097.1:p.Ala74=
ENST00000649814.1:n.269G=
ENST00000650244.1:c.365G=	ENSP00000497227.1:n.365G=
ENST00000650270.1:c.87G=
XM_011513266.3:c.-682G=	XP_011511568.1:n.-682G=
XR_001740352.2:n.583G=
XR_001740353.2:n.583G=
XR_924208.1:n.1171G=
XR_924208.2:n.583G=