Canonical Allele Identifier: CA1425882981

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138005T= , CM000665.2:g.184138005T=	GRCh38
NC_000003.11:g.183855793T= , CM000665.1:g.183855793T=	GRCh37
NC_000003.10:g.185338487T=	NCBI36
NG_015826.1:g.7984T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.637T=
ENST00000468748.7:n.597T=
ENST00000484154.2:n.1235T=
ENST00000491008.6:n.1362T=
ENST00000492226.2:n.611T=
ENST00000492773.6:c.346T=
ENST00000647636.1:c.614T=	ENSP00000497505.1:p.Val205=
ENST00000647909.1:c.638T=	ENSP00000498164.1:p.Val213=
ENST00000648145.1:c.382T=
ENST00000648189.1:c.364T=
ENST00000648256.1:c.563T=	ENSP00000497356.1:p.Val188=
ENST00000648314.1:c.614T=	ENSP00000496920.1:p.Val205=
ENST00000648599.1:c.614T=	ENSP00000497159.1:p.Val205=
ENST00000648630.1:c.608T=	ENSP00000497887.1:p.Val203=
ENST00000648682.1:c.614T=	ENSP00000498185.1:p.Val205=
ENST00000648882.1:c.*440T=	ENSP00000497603.1:n.*440T=
ENST00000648890.1:c.614T=	ENSP00000497503.1:p.Val205=
ENST00000648915.2:c.614T= MANE Select	ENSP00000497160.1:p.Val205=
ENST00000649545.1:c.348T=
ENST00000649688.1:c.614T=	ENSP00000497097.1:p.Val205=
ENST00000649814.1:n.663T=
ENST00000650270.1:c.481T=
ENST00000273783.7:c.614T=	ENSP00000273783.3:p.Val205=
ENST00000432982.5:c.245+1330T=
ENST00000444495.1:c.614T=	ENSP00000409142.1:p.Val205=
ENST00000468748.5:n.67T=
ENST00000481054.5:n.615T=
ENST00000491008.5:n.578T=
ENST00000491144.5:n.1054T=
ENST00000498831.1:n.569T=
NM_003907.2:c.614T=	NP_003898.2:p.Val205=
XR_924208.1:n.1565T=
NM_003907.3:c.614T= MANE Select	NP_003898.2:p.Val205=
XM_011513266.3:c.-288T=	XP_011511568.1:n.-288T=
XR_001740352.2:n.977T=
XR_001740353.2:n.977T=
XR_924208.2:n.977T=