Canonical Allele Identifier: CA1425885667

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140514A= , CM000665.2:g.184140514A=	GRCh38
NC_000003.11:g.183858302A= , CM000665.1:g.183858302A=	GRCh37
NC_000003.10:g.185340996A=	NCBI36
NG_015826.1:g.10493A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.963A=
ENST00000468748.7:n.1183A=
ENST00000484154.2:n.1387-1411A=
ENST00000491008.6:n.1688A=
ENST00000492226.2:n.1197A=
ENST00000492773.6:c.694A=
ENST00000647636.1:c.940A=	ENSP00000497505.1:p.Ile314=
ENST00000647909.1:c.964A=	ENSP00000498164.1:p.Ile322=
ENST00000648145.1:c.708A=
ENST00000648189.1:c.754A=
ENST00000648256.1:c.912A=	ENSP00000497356.1:n.912A=
ENST00000648314.1:c.*59A=	ENSP00000496920.1:n.*59A=
ENST00000648599.1:c.*223A=	ENSP00000497159.1:n.*223A=
ENST00000648630.1:c.934A=	ENSP00000497887.1:p.Ile312=
ENST00000648682.1:c.940A=	ENSP00000498185.1:p.Ile314=
ENST00000648882.1:c.*766A=	ENSP00000497603.1:n.*766A=
ENST00000648890.1:c.940A=	ENSP00000497503.1:p.Ile314=
ENST00000648915.2:c.940A= MANE Select	ENSP00000497160.1:p.Ile314=
ENST00000649545.1:c.577+357A=
ENST00000649688.1:c.*223A=	ENSP00000497097.1:n.*223A=
ENST00000649814.1:n.989A=
ENST00000650270.1:c.807A=
ENST00000273783.7:c.940A=	ENSP00000273783.3:p.Ile314=
ENST00000432982.5:c.246-1723A=
ENST00000444495.1:c.940A=	ENSP00000409142.1:p.Ile314=
ENST00000468748.5:n.653A=
ENST00000479833.1:n.256A=
ENST00000481054.5:n.1034A=
ENST00000491144.5:n.1444A=
ENST00000493740.1:n.170A=
NM_003907.2:c.940A=	NP_003898.2:p.Ile314=
XM_011513265.1:c.190A=	XP_011511567.1:p.Ile64=
XM_011513266.1:c.103A=	XP_011511568.1:p.Ile35=
XR_924208.1:n.1891A=
NM_003907.3:c.940A= MANE Select	NP_003898.2:p.Ile314=
XM_011513266.3:c.103A=	XP_011511568.1:p.Ile35=
XR_001740352.2:n.1303A=
XR_001740353.2:n.1303A=
XR_924208.2:n.1303A=