Canonical Allele Identifier: CA1425883002

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138026T= , CM000665.2:g.184138026T=	GRCh38
NC_000003.11:g.183855814T= , CM000665.1:g.183855814T=	GRCh37
NC_000003.10:g.185338508T=	NCBI36
NG_015826.1:g.8005T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.658T=
ENST00000468748.7:n.618T=
ENST00000484154.2:n.1256T=
ENST00000491008.6:n.1383T=
ENST00000492226.2:n.632T=
ENST00000492773.6:c.367T=
ENST00000647636.1:c.635T=	ENSP00000497505.1:p.Val212=
ENST00000647909.1:c.659T=	ENSP00000498164.1:p.Val220=
ENST00000648145.1:c.403T=
ENST00000648189.1:c.385T=
ENST00000648256.1:c.584T=	ENSP00000497356.1:p.Val195=
ENST00000648314.1:c.635T=	ENSP00000496920.1:p.Val212=
ENST00000648599.1:c.635T=	ENSP00000497159.1:p.Val212=
ENST00000648630.1:c.629T=	ENSP00000497887.1:p.Val210=
ENST00000648682.1:c.635T=	ENSP00000498185.1:p.Val212=
ENST00000648882.1:c.*461T=	ENSP00000497603.1:n.*461T=
ENST00000648890.1:c.635T=	ENSP00000497503.1:p.Val212=
ENST00000648915.2:c.635T= MANE Select	ENSP00000497160.1:p.Val212=
ENST00000649545.1:c.369T=
ENST00000649688.1:c.635T=	ENSP00000497097.1:p.Val212=
ENST00000649814.1:n.684T=
ENST00000650270.1:c.502T=
ENST00000273783.7:c.635T=	ENSP00000273783.3:p.Val212=
ENST00000432982.5:c.245+1351T=
ENST00000444495.1:c.635T=	ENSP00000409142.1:p.Val212=
ENST00000468748.5:n.88T=
ENST00000481054.5:n.636T=
ENST00000491008.5:n.599T=
ENST00000491144.5:n.1075T=
ENST00000498831.1:n.590T=
NM_003907.2:c.635T=	NP_003898.2:p.Val212=
XR_924208.1:n.1586T=
NM_003907.3:c.635T= MANE Select	NP_003898.2:p.Val212=
XM_011513266.3:c.-267T=	XP_011511568.1:n.-267T=
XR_001740352.2:n.998T=
XR_001740353.2:n.998T=
XR_924208.2:n.998T=