Canonical Allele Identifier: CA1425885640

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140503G= , CM000665.2:g.184140503G=	GRCh38
NC_000003.11:g.183858291G= , CM000665.1:g.183858291G=	GRCh37
NC_000003.10:g.185340985G=	NCBI36
NG_015826.1:g.10482G=

Transcript Alleles

HGVS	Amino-acid Change
NM_003907.3:c.929G= MANE Select	NP_003898.2:p.Cys310=
ENST00000648915.2:c.929G= MANE Select	ENSP00000497160.1:p.Cys310=
NM_003907.2:c.929G=	NP_003898.2:p.Cys310=
ENST00000273783.7:c.929G=	ENSP00000273783.3:p.Cys310=
ENST00000432982.5:c.246-1734G=
ENST00000444495.1:c.929G=	ENSP00000409142.1:p.Cys310=
ENST00000465218.3:n.952G=
ENST00000468748.5:n.642G=
ENST00000468748.7:n.1172G=
ENST00000479833.1:n.245G=
ENST00000481054.5:n.1023G=
ENST00000484154.2:n.1387-1422G=
ENST00000491008.6:n.1677G=
ENST00000491144.5:n.1433G=
ENST00000492226.2:n.1186G=
ENST00000492773.6:c.683G=
ENST00000493740.1:n.159G=
ENST00000647636.1:c.929G=	ENSP00000497505.1:p.Cys310=
ENST00000647909.1:c.953G=	ENSP00000498164.1:p.Cys318=
ENST00000648145.1:c.697G=
ENST00000648189.1:c.743G=
ENST00000648256.1:c.901G=	ENSP00000497356.1:n.901G=
ENST00000648314.1:c.*48G=	ENSP00000496920.1:n.*48G=
ENST00000648599.1:c.*212G=	ENSP00000497159.1:n.*212G=
ENST00000648630.1:c.923G=	ENSP00000497887.1:p.Cys308=
ENST00000648682.1:c.929G=	ENSP00000498185.1:p.Cys310=
ENST00000648882.1:c.*755G=	ENSP00000497603.1:n.*755G=
ENST00000648890.1:c.929G=	ENSP00000497503.1:p.Cys310=
ENST00000649545.1:c.577+346G=
ENST00000649688.1:c.*212G=	ENSP00000497097.1:n.*212G=
ENST00000649814.1:n.978G=
ENST00000650270.1:c.796G=
XM_011513265.1:c.179G=	XP_011511567.1:p.Cys60=
XM_011513266.1:c.92G=	XP_011511568.1:p.Cys31=
XM_011513266.3:c.92G=	XP_011511568.1:p.Cys31=
XR_001740352.2:n.1292G=
XR_001740353.2:n.1292G=
XR_924208.1:n.1880G=
XR_924208.2:n.1292G=