Canonical Allele Identifier: CA1425889613

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184144113G= , CM000665.2:g.184144113G=	GRCh38
NC_000003.11:g.183861901G= , CM000665.1:g.183861901G=	GRCh37
NC_000003.10:g.185344595G=	NCBI36
NG_015826.1:g.14092G=

Transcript Alleles

HGVS	Amino-acid Change
NM_003907.3:c.1884G= MANE Select	NP_003898.2:p.Trp628=
ENST00000648915.2:c.1884G= MANE Select	ENSP00000497160.1:p.Trp628=
NM_003907.2:c.1884G=	NP_003898.2:p.Trp628=
ENST00000273783.7:c.1884G=	ENSP00000273783.3:p.Trp628=
ENST00000444495.1:c.1884G=	ENSP00000409142.1:p.Trp628=
ENST00000465218.2:n.666G=
ENST00000465218.3:n.2206G=
ENST00000468748.7:n.2959G=
ENST00000481054.5:n.2810G=
ENST00000484154.2:n.2946G=
ENST00000491008.6:n.2648G=
ENST00000491144.5:n.2388G=
ENST00000492226.1:n.60G=
ENST00000492226.2:n.2983G=
ENST00000492773.6:c.1638G=
ENST00000647636.1:c.*733G=	ENSP00000497505.1:n.*733G=
ENST00000647909.1:c.1908G=	ENSP00000498164.1:p.Trp636=
ENST00000648145.1:c.1676G=
ENST00000648189.1:c.1718G=
ENST00000648256.1:c.1856G=	ENSP00000497356.1:n.1856G=
ENST00000648314.1:c.*1288-15G=	ENSP00000496920.1:n.*1288-15G=
ENST00000648599.1:c.*1167G=	ENSP00000497159.1:n.*1167G=
ENST00000648630.1:c.2062G=	ENSP00000497887.1:n.2062G=
ENST00000648682.1:c.*1023G=	ENSP00000498185.1:n.*1023G=
ENST00000648882.1:c.*1710G=	ENSP00000497603.1:n.*1710G=
ENST00000648890.1:c.*307G=	ENSP00000497503.1:n.*307G=
ENST00000649545.1:c.1543G=
ENST00000649688.1:c.*1476G=	ENSP00000497097.1:n.*1476G=
ENST00000649814.1:n.2482G=
ENST00000650270.1:c.1762G=
XM_011513265.1:c.1134G=	XP_011511567.1:p.Trp378=
XM_011513266.1:c.1047G=	XP_011511568.1:p.Trp349=
XM_011513266.3:c.1047G=	XP_011511568.1:p.Trp349=
XR_001740352.2:n.2258G=
XR_001740353.2:n.2274G=
XR_924208.1:n.2851G=
XR_924208.2:n.2263G=