Canonical Allele Identifier: CA1425882984

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138007G= , CM000665.2:g.184138007G=	GRCh38
NC_000003.11:g.183855795G= , CM000665.1:g.183855795G=	GRCh37
NC_000003.10:g.185338489G=	NCBI36
NG_015826.1:g.7986G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.639G=
ENST00000468748.7:n.599G=
ENST00000484154.2:n.1237G=
ENST00000491008.6:n.1364G=
ENST00000492226.2:n.613G=
ENST00000492773.6:c.348G=
ENST00000647636.1:c.616G=	ENSP00000497505.1:p.Asp206=
ENST00000647909.1:c.640G=	ENSP00000498164.1:p.Asp214=
ENST00000648145.1:c.384G=
ENST00000648189.1:c.366G=
ENST00000648256.1:c.565G=	ENSP00000497356.1:p.Asp189=
ENST00000648314.1:c.616G=	ENSP00000496920.1:p.Asp206=
ENST00000648599.1:c.616G=	ENSP00000497159.1:p.Asp206=
ENST00000648630.1:c.610G=	ENSP00000497887.1:p.Asp204=
ENST00000648682.1:c.616G=	ENSP00000498185.1:p.Asp206=
ENST00000648882.1:c.*442G=	ENSP00000497603.1:n.*442G=
ENST00000648890.1:c.616G=	ENSP00000497503.1:p.Asp206=
ENST00000648915.2:c.616G= MANE Select	ENSP00000497160.1:p.Asp206=
ENST00000649545.1:c.350G=
ENST00000649688.1:c.616G=	ENSP00000497097.1:p.Asp206=
ENST00000649814.1:n.665G=
ENST00000650270.1:c.483G=
ENST00000273783.7:c.616G=	ENSP00000273783.3:p.Asp206=
ENST00000432982.5:c.245+1332G=
ENST00000444495.1:c.616G=	ENSP00000409142.1:p.Asp206=
ENST00000468748.5:n.69G=
ENST00000481054.5:n.617G=
ENST00000491008.5:n.580G=
ENST00000491144.5:n.1056G=
ENST00000498831.1:n.571G=
NM_003907.2:c.616G=	NP_003898.2:p.Asp206=
XR_924208.1:n.1567G=
NM_003907.3:c.616G= MANE Select	NP_003898.2:p.Asp206=
XM_011513266.3:c.-286G=	XP_011511568.1:n.-286G=
XR_001740352.2:n.979G=
XR_001740353.2:n.979G=
XR_924208.2:n.979G=