Canonical Allele Identifier: CA1425882556

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137705C= , CM000665.2:g.184137705C=	GRCh38
NC_000003.11:g.183855493C= , CM000665.1:g.183855493C=	GRCh37
NC_000003.10:g.185338187C=	NCBI36
NG_015826.1:g.7684C=

Transcript Alleles

HGVS	Amino-acid Change
NM_003907.3:c.406C= MANE Select	NP_003898.2:p.Arg136=
ENST00000648915.2:c.406C= MANE Select	ENSP00000497160.1:p.Arg136=
NM_003907.2:c.406C=	NP_003898.2:p.Arg136=
ENST00000273783.7:c.406C=	ENSP00000273783.3:p.Arg136=
ENST00000432982.5:c.245+1030C=
ENST00000444495.1:c.406C=	ENSP00000409142.1:p.Arg136=
ENST00000465218.3:n.429C=
ENST00000468748.7:n.389C=
ENST00000481054.5:n.407C=
ENST00000484154.2:n.1027C=
ENST00000491008.5:n.370C=
ENST00000491008.6:n.1154C=
ENST00000491144.5:n.754C=
ENST00000492226.2:n.403C=
ENST00000492773.6:c.138C=
ENST00000498831.1:n.361C=
ENST00000647636.1:c.406C=	ENSP00000497505.1:p.Arg136=
ENST00000647909.1:c.406C=	ENSP00000498164.1:p.Arg136=
ENST00000648145.1:c.174C=
ENST00000648189.1:c.156C=
ENST00000648256.1:c.355C=	ENSP00000497356.1:p.Arg119=
ENST00000648314.1:c.406C=	ENSP00000496920.1:p.Arg136=
ENST00000648599.1:c.406C=	ENSP00000497159.1:p.Arg136=
ENST00000648630.1:c.400C=	ENSP00000497887.1:p.Arg134=
ENST00000648682.1:c.406C=	ENSP00000498185.1:p.Arg136=
ENST00000648882.1:c.*232C=	ENSP00000497603.1:n.*232C=
ENST00000648890.1:c.406C=	ENSP00000497503.1:p.Arg136=
ENST00000649545.1:c.140C=
ENST00000649688.1:c.406C=	ENSP00000497097.1:p.Arg136=
ENST00000649814.1:n.455C=
ENST00000650244.1:c.551C=	ENSP00000497227.1:n.551C=
ENST00000650270.1:c.273C=
XM_011513266.3:c.-496C=	XP_011511568.1:n.-496C=
XR_001740352.2:n.769C=
XR_001740353.2:n.769C=
XR_924208.1:n.1357C=
XR_924208.2:n.769C=