Canonical Allele Identifier: CA1425889726

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184144177G= , CM000665.2:g.184144177G=	GRCh38
NC_000003.11:g.183861965G= , CM000665.1:g.183861965G=	GRCh37
NC_000003.10:g.185344659G=	NCBI36
NG_015826.1:g.14156G=

Transcript Alleles

HGVS	Amino-acid Change
NM_003907.3:c.1948G= MANE Select	NP_003898.2:p.Glu650=
ENST00000648915.2:c.1948G= MANE Select	ENSP00000497160.1:p.Glu650=
NM_003907.2:c.1948G=	NP_003898.2:p.Glu650=
ENST00000273783.7:c.1948G=	ENSP00000273783.3:p.Glu650=
ENST00000444495.1:c.1948G=	ENSP00000409142.1:p.Glu650=
ENST00000465218.2:n.730G=
ENST00000465218.3:n.2270G=
ENST00000468748.7:n.3023G=
ENST00000481054.5:n.2874G=
ENST00000484154.2:n.3010G=
ENST00000491008.6:n.2712G=
ENST00000491144.5:n.2452G=
ENST00000492226.1:n.124G=
ENST00000492226.2:n.3047G=
ENST00000492773.6:c.1702G=
ENST00000647636.1:c.*797G=	ENSP00000497505.1:n.*797G=
ENST00000647909.1:c.1972G=	ENSP00000498164.1:p.Glu658=
ENST00000648145.1:c.1740G=
ENST00000648189.1:c.1782G=
ENST00000648256.1:c.1920G=	ENSP00000497356.1:n.1920G=
ENST00000648314.1:c.*1337G=	ENSP00000496920.1:n.*1337G=
ENST00000648599.1:c.*1231G=	ENSP00000497159.1:n.*1231G=
ENST00000648630.1:c.2126G=	ENSP00000497887.1:n.2126G=
ENST00000648682.1:c.*1087G=	ENSP00000498185.1:n.*1087G=
ENST00000648882.1:c.*1774G=	ENSP00000497603.1:n.*1774G=
ENST00000648890.1:c.*371G=	ENSP00000497503.1:n.*371G=
ENST00000649545.1:c.1607G=
ENST00000649688.1:c.*1540G=	ENSP00000497097.1:n.*1540G=
ENST00000649814.1:n.2546G=
ENST00000650270.1:c.1826G=
XM_011513265.1:c.1198G=	XP_011511567.1:p.Glu400=
XM_011513266.1:c.1111G=	XP_011511568.1:p.Glu371=
XM_011513266.3:c.1111G=	XP_011511568.1:p.Glu371=
XR_001740352.2:n.2322G=
XR_001740353.2:n.2338G=
XR_924208.1:n.2915G=
XR_924208.2:n.2327G=