Canonical Allele Identifier: CA1425887067

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141935G= , CM000665.2:g.184141935G=	GRCh38
NC_000003.11:g.183859723G= , CM000665.1:g.183859723G=	GRCh37
NC_000003.10:g.185342417G=	NCBI36
NG_015826.1:g.11914G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1190G=
ENST00000468748.7:n.1410G=
ENST00000484154.2:n.1397G=
ENST00000491008.6:n.1915G=
ENST00000492226.2:n.1434G=
ENST00000492773.6:c.921G=
ENST00000647636.1:c.*16G=	ENSP00000497505.1:n.*16G=
ENST00000647909.1:c.1191G=	ENSP00000498164.1:p.Val397=
ENST00000648145.1:c.939G=
ENST00000648189.1:c.985G=
ENST00000648256.1:c.1139G=	ENSP00000497356.1:n.1139G=
ENST00000648314.1:c.*286G=	ENSP00000496920.1:n.*286G=
ENST00000648599.1:c.*450G=	ENSP00000497159.1:n.*450G=
ENST00000648630.1:c.1046G=	ENSP00000497887.1:p.Trp349=
ENST00000648682.1:c.*7G=	ENSP00000498185.1:n.*7G=
ENST00000648882.1:c.*993G=	ENSP00000497603.1:n.*993G=
ENST00000648890.1:c.1167G=	ENSP00000497503.1:p.Val389=
ENST00000648915.2:c.1167G= MANE Select	ENSP00000497160.1:p.Val389=
ENST00000649545.1:c.588G=
ENST00000649688.1:c.*460G=	ENSP00000497097.1:n.*460G=
ENST00000649814.1:n.1216G=
ENST00000650270.1:c.1034G=
ENST00000273783.7:c.1167G=	ENSP00000273783.3:p.Val389=
ENST00000432982.5:c.246-302G=
ENST00000444495.1:c.1167G=	ENSP00000409142.1:p.Val389=
ENST00000479833.1:n.368G=
ENST00000481054.5:n.1261G=
ENST00000491144.5:n.1671G=
ENST00000492773.5:n.50G=
NM_003907.2:c.1167G=	NP_003898.2:p.Val389=
XM_011513265.1:c.417G=	XP_011511567.1:p.Val139=
XM_011513266.1:c.330G=	XP_011511568.1:p.Val110=
XR_924208.1:n.2118G=
NM_003907.3:c.1167G= MANE Select	NP_003898.2:p.Val389=
XM_011513266.3:c.330G=	XP_011511568.1:p.Val110=
XR_001740352.2:n.1530G=
XR_001740353.2:n.1530G=
XR_924208.2:n.1530G=