Canonical Allele Identifier: CA1425885821

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140590G= , CM000665.2:g.184140590G=	GRCh38
NC_000003.11:g.183858378G= , CM000665.1:g.183858378G=	GRCh37
NC_000003.10:g.185341072G=	NCBI36
NG_015826.1:g.10569G=

Transcript Alleles

HGVS	Amino-acid Change
NM_003907.3:c.1016G= MANE Select	NP_003898.2:p.Arg339=
ENST00000648915.2:c.1016G= MANE Select	ENSP00000497160.1:p.Arg339=
NM_003907.2:c.1016G=	NP_003898.2:p.Arg339=
ENST00000273783.7:c.1016G=	ENSP00000273783.3:p.Arg339=
ENST00000432982.5:c.246-1647G=
ENST00000444495.1:c.1016G=	ENSP00000409142.1:p.Arg339=
ENST00000465218.3:n.1039G=
ENST00000468748.7:n.1259G=
ENST00000479833.1:n.332G=
ENST00000481054.5:n.1110G=
ENST00000484154.2:n.1387-1335G=
ENST00000491008.6:n.1764G=
ENST00000491144.5:n.1520G=
ENST00000492226.2:n.1273G=
ENST00000492773.6:c.770G=
ENST00000493740.1:n.246G=
ENST00000647636.1:c.1016G=	ENSP00000497505.1:p.Arg339=
ENST00000647909.1:c.1040G=	ENSP00000498164.1:p.Arg347=
ENST00000648145.1:c.784G=
ENST00000648189.1:c.830G=
ENST00000648256.1:c.988G=	ENSP00000497356.1:n.988G=
ENST00000648314.1:c.*135G=	ENSP00000496920.1:n.*135G=
ENST00000648599.1:c.*299G=	ENSP00000497159.1:n.*299G=
ENST00000648630.1:c.1010G=	ENSP00000497887.1:p.Arg337=
ENST00000648682.1:c.1016G=	ENSP00000498185.1:p.Arg339=
ENST00000648882.1:c.*842G=	ENSP00000497603.1:n.*842G=
ENST00000648890.1:c.1016G=	ENSP00000497503.1:p.Arg339=
ENST00000649545.1:c.577+433G=
ENST00000649688.1:c.*299G=	ENSP00000497097.1:n.*299G=
ENST00000649814.1:n.1065G=
ENST00000650270.1:c.883G=
XM_011513265.1:c.266G=	XP_011511567.1:p.Arg89=
XM_011513266.1:c.179G=	XP_011511568.1:p.Arg60=
XM_011513266.3:c.179G=	XP_011511568.1:p.Arg60=
XR_001740352.2:n.1379G=
XR_001740353.2:n.1379G=
XR_924208.1:n.1967G=
XR_924208.2:n.1379G=