Canonical Allele Identifier: CA1425885869

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140628C= , CM000665.2:g.184140628C=	GRCh38
NC_000003.11:g.183858416C= , CM000665.1:g.183858416C=	GRCh37
NC_000003.10:g.185341110C=	NCBI36
NG_015826.1:g.10607C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1077C=
ENST00000468748.7:n.1297C=
ENST00000484154.2:n.1387-1297C=
ENST00000491008.6:n.1802C=
ENST00000492226.2:n.1311C=
ENST00000492773.6:c.808C=
ENST00000647636.1:c.1054C=	ENSP00000497505.1:p.His352=
ENST00000647909.1:c.1078C=	ENSP00000498164.1:p.His360=
ENST00000648145.1:c.822C=
ENST00000648189.1:c.868C=
ENST00000648256.1:c.1026C=	ENSP00000497356.1:n.1026C=
ENST00000648314.1:c.*173C=	ENSP00000496920.1:n.*173C=
ENST00000648599.1:c.*337C=	ENSP00000497159.1:n.*337C=
ENST00000648630.1:c.1035+13C=	ENSP00000497887.1:n.1035+13C=
ENST00000648682.1:c.1054C=	ENSP00000498185.1:p.His352=
ENST00000648882.1:c.*880C=	ENSP00000497603.1:n.*880C=
ENST00000648890.1:c.1054C=	ENSP00000497503.1:p.His352=
ENST00000648915.2:c.1054C= MANE Select	ENSP00000497160.1:p.His352=
ENST00000649545.1:c.577+471C=
ENST00000649688.1:c.*337C=	ENSP00000497097.1:n.*337C=
ENST00000649814.1:n.1103C=
ENST00000650270.1:c.921C=
ENST00000273783.7:c.1054C=	ENSP00000273783.3:p.His352=
ENST00000432982.5:c.246-1609C=
ENST00000444495.1:c.1054C=	ENSP00000409142.1:p.His352=
ENST00000479833.1:n.357+13C=
ENST00000481054.5:n.1148C=
ENST00000491144.5:n.1558C=
ENST00000493740.1:n.284C=
NM_003907.2:c.1054C=	NP_003898.2:p.His352=
XM_011513265.1:c.304C=	XP_011511567.1:p.His102=
XM_011513266.1:c.217C=	XP_011511568.1:p.His73=
XR_924208.1:n.2005C=
NM_003907.3:c.1054C= MANE Select	NP_003898.2:p.His352=
XM_011513266.3:c.217C=	XP_011511568.1:p.His73=
XR_001740352.2:n.1417C=
XR_001740353.2:n.1417C=
XR_924208.2:n.1417C=