Canonical Allele Identifier: CA1425882957

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137991T= , CM000665.2:g.184137991T=	GRCh38
NC_000003.11:g.183855779T= , CM000665.1:g.183855779T=	GRCh37
NC_000003.10:g.185338473T=	NCBI36
NG_015826.1:g.7970T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.623T=
ENST00000468748.7:n.583T=
ENST00000484154.2:n.1221T=
ENST00000491008.6:n.1348T=
ENST00000492226.2:n.597T=
ENST00000492773.6:c.332T=
ENST00000647636.1:c.600T=	ENSP00000497505.1:p.Asn200=
ENST00000647909.1:c.624T=	ENSP00000498164.1:p.Asn208=
ENST00000648145.1:c.368T=
ENST00000648189.1:c.350T=
ENST00000648256.1:c.549T=	ENSP00000497356.1:p.Asn183=
ENST00000648314.1:c.600T=	ENSP00000496920.1:p.Asn200=
ENST00000648599.1:c.600T=	ENSP00000497159.1:p.Asn200=
ENST00000648630.1:c.594T=	ENSP00000497887.1:p.Asn198=
ENST00000648682.1:c.600T=	ENSP00000498185.1:p.Asn200=
ENST00000648882.1:c.*426T=	ENSP00000497603.1:n.*426T=
ENST00000648890.1:c.600T=	ENSP00000497503.1:p.Asn200=
ENST00000648915.2:c.600T= MANE Select	ENSP00000497160.1:p.Asn200=
ENST00000649545.1:c.334T=
ENST00000649688.1:c.600T=	ENSP00000497097.1:p.Asn200=
ENST00000649814.1:n.649T=
ENST00000650270.1:c.467T=
ENST00000273783.7:c.600T=	ENSP00000273783.3:p.Asn200=
ENST00000432982.5:c.245+1316T=
ENST00000444495.1:c.600T=	ENSP00000409142.1:p.Asn200=
ENST00000468748.5:n.53T=
ENST00000481054.5:n.601T=
ENST00000491008.5:n.564T=
ENST00000491144.5:n.1040T=
ENST00000498831.1:n.555T=
NM_003907.2:c.600T=	NP_003898.2:p.Asn200=
XR_924208.1:n.1551T=
NM_003907.3:c.600T= MANE Select	NP_003898.2:p.Asn200=
XM_011513266.3:c.-302T=	XP_011511568.1:n.-302T=
XR_001740352.2:n.963T=
XR_001740353.2:n.963T=
XR_924208.2:n.963T=