Canonical Allele Identifier: CA1425885737

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140541C= , CM000665.2:g.184140541C=	GRCh38
NC_000003.11:g.183858329C= , CM000665.1:g.183858329C=	GRCh37
NC_000003.10:g.185341023C=	NCBI36
NG_015826.1:g.10520C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.990C=
ENST00000468748.7:n.1210C=
ENST00000484154.2:n.1387-1384C=
ENST00000491008.6:n.1715C=
ENST00000492226.2:n.1224C=
ENST00000492773.6:c.721C=
ENST00000647636.1:c.967C=	ENSP00000497505.1:p.Pro323=
ENST00000647909.1:c.991C=	ENSP00000498164.1:p.Pro331=
ENST00000648145.1:c.735C=
ENST00000648189.1:c.781C=
ENST00000648256.1:c.939C=	ENSP00000497356.1:n.939C=
ENST00000648314.1:c.*86C=	ENSP00000496920.1:n.*86C=
ENST00000648599.1:c.*250C=	ENSP00000497159.1:n.*250C=
ENST00000648630.1:c.961C=	ENSP00000497887.1:p.Pro321=
ENST00000648682.1:c.967C=	ENSP00000498185.1:p.Pro323=
ENST00000648882.1:c.*793C=	ENSP00000497603.1:n.*793C=
ENST00000648890.1:c.967C=	ENSP00000497503.1:p.Pro323=
ENST00000648915.2:c.967C= MANE Select	ENSP00000497160.1:p.Pro323=
ENST00000649545.1:c.577+384C=
ENST00000649688.1:c.*250C=	ENSP00000497097.1:n.*250C=
ENST00000649814.1:n.1016C=
ENST00000650270.1:c.834C=
ENST00000273783.7:c.967C=	ENSP00000273783.3:p.Pro323=
ENST00000432982.5:c.246-1696C=
ENST00000444495.1:c.967C=	ENSP00000409142.1:p.Pro323=
ENST00000479833.1:n.283C=
ENST00000481054.5:n.1061C=
ENST00000491144.5:n.1471C=
ENST00000493740.1:n.197C=
NM_003907.2:c.967C=	NP_003898.2:p.Pro323=
XM_011513265.1:c.217C=	XP_011511567.1:p.Pro73=
XM_011513266.1:c.130C=	XP_011511568.1:p.Pro44=
XR_924208.1:n.1918C=
NM_003907.3:c.967C= MANE Select	NP_003898.2:p.Pro323=
XM_011513266.3:c.130C=	XP_011511568.1:p.Pro44=
XR_001740352.2:n.1330C=
XR_001740353.2:n.1330C=
XR_924208.2:n.1330C=