Canonical Allele Identifier: CA1425885168

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140106T= , CM000665.2:g.184140106T=	GRCh38
NC_000003.11:g.183857894T= , CM000665.1:g.183857894T=	GRCh37
NC_000003.10:g.185340588T=	NCBI36
NG_015826.1:g.10085T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.815T=
ENST00000468748.7:n.775T=
ENST00000484154.2:n.1387-1819T=
ENST00000491008.6:n.1540T=
ENST00000492226.2:n.789T=
ENST00000492773.6:c.546T=
ENST00000647636.1:c.792T=	ENSP00000497505.1:p.Phe264=
ENST00000647909.1:c.816T=	ENSP00000498164.1:p.Phe272=
ENST00000648145.1:c.560T=
ENST00000648189.1:c.542T=
ENST00000648256.1:c.764T=	ENSP00000497356.1:p.Leu255=
ENST00000648314.1:c.792T=	ENSP00000496920.1:p.Phe264=
ENST00000648599.1:c.*75T=	ENSP00000497159.1:n.*75T=
ENST00000648630.1:c.786T=	ENSP00000497887.1:p.Phe262=
ENST00000648682.1:c.792T=	ENSP00000498185.1:p.Phe264=
ENST00000648882.1:c.*618T=	ENSP00000497603.1:n.*618T=
ENST00000648890.1:c.792T=	ENSP00000497503.1:p.Phe264=
ENST00000648915.2:c.792T= MANE Select	ENSP00000497160.1:p.Phe264=
ENST00000649545.1:c.526T=
ENST00000649688.1:c.*75T=	ENSP00000497097.1:n.*75T=
ENST00000649814.1:n.841T=
ENST00000650270.1:c.659T=
ENST00000273783.7:c.792T=	ENSP00000273783.3:p.Phe264=
ENST00000432982.5:c.246-2131T=
ENST00000444495.1:c.792T=	ENSP00000409142.1:p.Phe264=
ENST00000468748.5:n.245T=
ENST00000479833.1:n.108T=
ENST00000481054.5:n.886T=
ENST00000491008.5:n.756T=
ENST00000491144.5:n.1232T=
NM_003907.2:c.792T=	NP_003898.2:p.Phe264=
XM_011513265.1:c.42T=	XP_011511567.1:p.Phe14=
XR_924208.1:n.1743T=
NM_003907.3:c.792T= MANE Select	NP_003898.2:p.Phe264=
XM_011513266.3:c.-110T=	XP_011511568.1:n.-110T=
XR_001740352.2:n.1155T=
XR_001740353.2:n.1155T=
XR_924208.2:n.1155T=