Canonical Allele Identifier: CA1425885867

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140625G= , CM000665.2:g.184140625G=	GRCh38
NC_000003.11:g.183858413G= , CM000665.1:g.183858413G=	GRCh37
NC_000003.10:g.185341107G=	NCBI36
NG_015826.1:g.10604G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1074G=
ENST00000468748.7:n.1294G=
ENST00000484154.2:n.1387-1300G=
ENST00000491008.6:n.1799G=
ENST00000492226.2:n.1308G=
ENST00000492773.6:c.805G=
ENST00000647636.1:c.1051G=	ENSP00000497505.1:p.Gly351=
ENST00000647909.1:c.1075G=	ENSP00000498164.1:p.Gly359=
ENST00000648145.1:c.819G=
ENST00000648189.1:c.865G=
ENST00000648256.1:c.1023G=	ENSP00000497356.1:n.1023G=
ENST00000648314.1:c.*170G=	ENSP00000496920.1:n.*170G=
ENST00000648599.1:c.*334G=	ENSP00000497159.1:n.*334G=
ENST00000648630.1:c.1035+10G=	ENSP00000497887.1:n.1035+10G=
ENST00000648682.1:c.1051G=	ENSP00000498185.1:p.Gly351=
ENST00000648882.1:c.*877G=	ENSP00000497603.1:n.*877G=
ENST00000648890.1:c.1051G=	ENSP00000497503.1:p.Gly351=
ENST00000648915.2:c.1051G= MANE Select	ENSP00000497160.1:p.Gly351=
ENST00000649545.1:c.577+468G=
ENST00000649688.1:c.*334G=	ENSP00000497097.1:n.*334G=
ENST00000649814.1:n.1100G=
ENST00000650270.1:c.918G=
ENST00000273783.7:c.1051G=	ENSP00000273783.3:p.Gly351=
ENST00000432982.5:c.246-1612G=
ENST00000444495.1:c.1051G=	ENSP00000409142.1:p.Gly351=
ENST00000479833.1:n.357+10G=
ENST00000481054.5:n.1145G=
ENST00000491144.5:n.1555G=
ENST00000493740.1:n.281G=
NM_003907.2:c.1051G=	NP_003898.2:p.Gly351=
XM_011513265.1:c.301G=	XP_011511567.1:p.Gly101=
XM_011513266.1:c.214G=	XP_011511568.1:p.Gly72=
XR_924208.1:n.2002G=
NM_003907.3:c.1051G= MANE Select	NP_003898.2:p.Gly351=
XM_011513266.3:c.214G=	XP_011511568.1:p.Gly72=
XR_001740352.2:n.1414G=
XR_001740353.2:n.1414G=
XR_924208.2:n.1414G=