Canonical Allele Identifier: CA1425882586

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137712T= , CM000665.2:g.184137712T=	GRCh38
NC_000003.11:g.183855500T= , CM000665.1:g.183855500T=	GRCh37
NC_000003.10:g.185338194T=	NCBI36
NG_015826.1:g.7691T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.436T=
ENST00000468748.7:n.396T=
ENST00000484154.2:n.1034T=
ENST00000491008.6:n.1161T=
ENST00000492226.2:n.410T=
ENST00000492773.6:c.145T=
ENST00000647636.1:c.413T=	ENSP00000497505.1:p.Val138=
ENST00000647909.1:c.413T=	ENSP00000498164.1:p.Val138=
ENST00000648145.1:c.181T=
ENST00000648189.1:c.163T=
ENST00000648256.1:c.362T=	ENSP00000497356.1:p.Val121=
ENST00000648314.1:c.413T=	ENSP00000496920.1:p.Val138=
ENST00000648599.1:c.413T=	ENSP00000497159.1:p.Val138=
ENST00000648630.1:c.407T=	ENSP00000497887.1:p.Val136=
ENST00000648682.1:c.413T=	ENSP00000498185.1:p.Val138=
ENST00000648882.1:c.*239T=	ENSP00000497603.1:n.*239T=
ENST00000648890.1:c.413T=	ENSP00000497503.1:p.Val138=
ENST00000648915.2:c.413T= MANE Select	ENSP00000497160.1:p.Val138=
ENST00000649545.1:c.147T=
ENST00000649688.1:c.413T=	ENSP00000497097.1:p.Val138=
ENST00000649814.1:n.462T=
ENST00000650244.1:c.558T=	ENSP00000497227.1:n.558T=
ENST00000650270.1:c.280T=
ENST00000273783.7:c.413T=	ENSP00000273783.3:p.Val138=
ENST00000432982.5:c.245+1037T=
ENST00000444495.1:c.413T=	ENSP00000409142.1:p.Val138=
ENST00000481054.5:n.414T=
ENST00000491008.5:n.377T=
ENST00000491144.5:n.761T=
ENST00000498831.1:n.368T=
NM_003907.2:c.413T=	NP_003898.2:p.Val138=
XR_924208.1:n.1364T=
NM_003907.3:c.413T= MANE Select	NP_003898.2:p.Val138=
XM_011513266.3:c.-489T=	XP_011511568.1:n.-489T=
XR_001740352.2:n.776T=
XR_001740353.2:n.776T=
XR_924208.2:n.776T=