Canonical Allele Identifier: CA1425887050

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141925G= , CM000665.2:g.184141925G=	GRCh38
NC_000003.11:g.183859713G= , CM000665.1:g.183859713G=	GRCh37
NC_000003.10:g.185342407G=	NCBI36
NG_015826.1:g.11904G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1180G=
ENST00000468748.7:n.1400G=
ENST00000484154.2:n.1387G=
ENST00000491008.6:n.1905G=
ENST00000492226.2:n.1424G=
ENST00000492773.6:c.911G=
ENST00000647636.1:c.*6G=	ENSP00000497505.1:n.*6G=
ENST00000647909.1:c.1181G=	ENSP00000498164.1:p.Gly394=
ENST00000648145.1:c.929G=
ENST00000648189.1:c.975G=
ENST00000648256.1:c.1129G=	ENSP00000497356.1:n.1129G=
ENST00000648314.1:c.*276G=	ENSP00000496920.1:n.*276G=
ENST00000648599.1:c.*440G=	ENSP00000497159.1:n.*440G=
ENST00000648630.1:c.1036G=	ENSP00000497887.1:p.Val346=
ENST00000648682.1:c.1167G=	ENSP00000498185.1:p.Arg389=
ENST00000648882.1:c.*983G=	ENSP00000497603.1:n.*983G=
ENST00000648890.1:c.1157G=	ENSP00000497503.1:p.Gly386=
ENST00000648915.2:c.1157G= MANE Select	ENSP00000497160.1:p.Gly386=
ENST00000649545.1:c.578G=
ENST00000649688.1:c.*450G=	ENSP00000497097.1:n.*450G=
ENST00000649814.1:n.1206G=
ENST00000650270.1:c.1024G=
ENST00000273783.7:c.1157G=	ENSP00000273783.3:p.Gly386=
ENST00000432982.5:c.246-312G=
ENST00000444495.1:c.1157G=	ENSP00000409142.1:p.Gly386=
ENST00000479833.1:n.358G=
ENST00000481054.5:n.1251G=
ENST00000491144.5:n.1661G=
ENST00000492773.5:n.40G=
NM_003907.2:c.1157G=	NP_003898.2:p.Gly386=
XM_011513265.1:c.407G=	XP_011511567.1:p.Gly136=
XM_011513266.1:c.320G=	XP_011511568.1:p.Gly107=
XR_924208.1:n.2108G=
NM_003907.3:c.1157G= MANE Select	NP_003898.2:p.Gly386=
XM_011513266.3:c.320G=	XP_011511568.1:p.Gly107=
XR_001740352.2:n.1520G=
XR_001740353.2:n.1520G=
XR_924208.2:n.1520G=