Canonical Allele Identifier: CA1425883038

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138058C= , CM000665.2:g.184138058C=	GRCh38
NC_000003.11:g.183855846C= , CM000665.1:g.183855846C=	GRCh37
NC_000003.10:g.185338540C=	NCBI36
NG_015826.1:g.8037C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.690C=
ENST00000468748.7:n.650C=
ENST00000484154.2:n.1288C=
ENST00000491008.6:n.1415C=
ENST00000492226.2:n.664C=
ENST00000492773.6:c.399C=
ENST00000647636.1:c.667C=	ENSP00000497505.1:p.Arg223=
ENST00000647909.1:c.691C=	ENSP00000498164.1:p.Arg231=
ENST00000648145.1:c.435C=
ENST00000648189.1:c.417C=
ENST00000648256.1:c.616C=	ENSP00000497356.1:p.Arg206=
ENST00000648314.1:c.667C=	ENSP00000496920.1:p.Arg223=
ENST00000648599.1:c.667C=	ENSP00000497159.1:p.Arg223=
ENST00000648630.1:c.661C=	ENSP00000497887.1:p.Arg221=
ENST00000648682.1:c.667C=	ENSP00000498185.1:p.Arg223=
ENST00000648882.1:c.*493C=	ENSP00000497603.1:n.*493C=
ENST00000648890.1:c.667C=	ENSP00000497503.1:p.Arg223=
ENST00000648915.2:c.667C= MANE Select	ENSP00000497160.1:p.Arg223=
ENST00000649545.1:c.401C=
ENST00000649688.1:c.667C=	ENSP00000497097.1:p.Arg223=
ENST00000649814.1:n.716C=
ENST00000650270.1:c.534C=
ENST00000273783.7:c.667C=	ENSP00000273783.3:p.Arg223=
ENST00000432982.5:c.245+1383C=
ENST00000444495.1:c.667C=	ENSP00000409142.1:p.Arg223=
ENST00000468748.5:n.120C=
ENST00000481054.5:n.668C=
ENST00000491008.5:n.631C=
ENST00000491144.5:n.1107C=
NM_003907.2:c.667C=	NP_003898.2:p.Arg223=
XR_924208.1:n.1618C=
NM_003907.3:c.667C= MANE Select	NP_003898.2:p.Arg223=
XM_011513266.3:c.-235C=	XP_011511568.1:n.-235C=
XR_001740352.2:n.1030C=
XR_001740353.2:n.1030C=
XR_924208.2:n.1030C=