Canonical Allele Identifier: CA1425882972

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138000G= , CM000665.2:g.184138000G=	GRCh38
NC_000003.11:g.183855788G= , CM000665.1:g.183855788G=	GRCh37
NC_000003.10:g.185338482G=	NCBI36
NG_015826.1:g.7979G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.632G=
ENST00000468748.7:n.592G=
ENST00000484154.2:n.1230G=
ENST00000491008.6:n.1357G=
ENST00000492226.2:n.606G=
ENST00000492773.6:c.341G=
ENST00000647636.1:c.609G=	ENSP00000497505.1:p.Val203=
ENST00000647909.1:c.633G=	ENSP00000498164.1:p.Val211=
ENST00000648145.1:c.377G=
ENST00000648189.1:c.359G=
ENST00000648256.1:c.558G=	ENSP00000497356.1:p.Val186=
ENST00000648314.1:c.609G=	ENSP00000496920.1:p.Val203=
ENST00000648599.1:c.609G=	ENSP00000497159.1:p.Val203=
ENST00000648630.1:c.603G=	ENSP00000497887.1:p.Val201=
ENST00000648682.1:c.609G=	ENSP00000498185.1:p.Val203=
ENST00000648882.1:c.*435G=	ENSP00000497603.1:n.*435G=
ENST00000648890.1:c.609G=	ENSP00000497503.1:p.Val203=
ENST00000648915.2:c.609G= MANE Select	ENSP00000497160.1:p.Val203=
ENST00000649545.1:c.343G=
ENST00000649688.1:c.609G=	ENSP00000497097.1:p.Val203=
ENST00000649814.1:n.658G=
ENST00000650270.1:c.476G=
ENST00000273783.7:c.609G=	ENSP00000273783.3:p.Val203=
ENST00000432982.5:c.245+1325G=
ENST00000444495.1:c.609G=	ENSP00000409142.1:p.Val203=
ENST00000468748.5:n.62G=
ENST00000481054.5:n.610G=
ENST00000491008.5:n.573G=
ENST00000491144.5:n.1049G=
ENST00000498831.1:n.564G=
NM_003907.2:c.609G=	NP_003898.2:p.Val203=
XR_924208.1:n.1560G=
NM_003907.3:c.609G= MANE Select	NP_003898.2:p.Val203=
XM_011513266.3:c.-293G=	XP_011511568.1:n.-293G=
XR_001740352.2:n.972G=
XR_001740353.2:n.972G=
XR_924208.2:n.972G=