Canonical Allele Identifier: CA1425882939

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137980C= , CM000665.2:g.184137980C=	GRCh38
NC_000003.11:g.183855768C= , CM000665.1:g.183855768C=	GRCh37
NC_000003.10:g.185338462C=	NCBI36
NG_015826.1:g.7959C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.612C=
ENST00000468748.7:n.572C=
ENST00000484154.2:n.1210C=
ENST00000491008.6:n.1337C=
ENST00000492226.2:n.586C=
ENST00000492773.6:c.321C=
ENST00000647636.1:c.589C=	ENSP00000497505.1:p.His197=
ENST00000647909.1:c.613C=	ENSP00000498164.1:p.His205=
ENST00000648145.1:c.357C=
ENST00000648189.1:c.339C=
ENST00000648256.1:c.538C=	ENSP00000497356.1:p.His180=
ENST00000648314.1:c.589C=	ENSP00000496920.1:p.His197=
ENST00000648599.1:c.589C=	ENSP00000497159.1:p.His197=
ENST00000648630.1:c.583C=	ENSP00000497887.1:p.His195=
ENST00000648682.1:c.589C=	ENSP00000498185.1:p.His197=
ENST00000648882.1:c.*415C=	ENSP00000497603.1:n.*415C=
ENST00000648890.1:c.589C=	ENSP00000497503.1:p.His197=
ENST00000648915.2:c.589C= MANE Select	ENSP00000497160.1:p.His197=
ENST00000649545.1:c.323C=
ENST00000649688.1:c.589C=	ENSP00000497097.1:p.His197=
ENST00000649814.1:n.638C=
ENST00000650270.1:c.456C=
ENST00000273783.7:c.589C=	ENSP00000273783.3:p.His197=
ENST00000432982.5:c.245+1305C=
ENST00000444495.1:c.589C=	ENSP00000409142.1:p.His197=
ENST00000468748.5:n.42C=
ENST00000481054.5:n.590C=
ENST00000491008.5:n.553C=
ENST00000491144.5:n.1029C=
ENST00000498831.1:n.544C=
NM_003907.2:c.589C=	NP_003898.2:p.His197=
XR_924208.1:n.1540C=
NM_003907.3:c.589C= MANE Select	NP_003898.2:p.His197=
XM_011513266.3:c.-313C=	XP_011511568.1:n.-313C=
XR_001740352.2:n.952C=
XR_001740353.2:n.952C=
XR_924208.2:n.952C=