Canonical Allele Identifier: CA1425882719

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137785C= , CM000665.2:g.184137785C=	GRCh38
NC_000003.11:g.183855573C= , CM000665.1:g.183855573C=	GRCh37
NC_000003.10:g.185338267C=	NCBI36
NG_015826.1:g.7764C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.509C=
ENST00000468748.7:n.469C=
ENST00000484154.2:n.1107C=
ENST00000491008.6:n.1234C=
ENST00000492226.2:n.483C=
ENST00000492773.6:c.218C=
ENST00000647636.1:c.486C=	ENSP00000497505.1:p.Thr162=
ENST00000647909.1:c.486C=	ENSP00000498164.1:p.Thr162=
ENST00000648145.1:c.254C=
ENST00000648189.1:c.236C=
ENST00000648256.1:c.435C=	ENSP00000497356.1:p.Thr145=
ENST00000648314.1:c.486C=	ENSP00000496920.1:p.Thr162=
ENST00000648599.1:c.486C=	ENSP00000497159.1:p.Thr162=
ENST00000648630.1:c.480C=	ENSP00000497887.1:p.Thr160=
ENST00000648682.1:c.486C=	ENSP00000498185.1:p.Thr162=
ENST00000648882.1:c.*312C=	ENSP00000497603.1:n.*312C=
ENST00000648890.1:c.486C=	ENSP00000497503.1:p.Thr162=
ENST00000648915.2:c.486C= MANE Select	ENSP00000497160.1:p.Thr162=
ENST00000649545.1:c.220C=
ENST00000649688.1:c.486C=	ENSP00000497097.1:p.Thr162=
ENST00000649814.1:n.535C=
ENST00000650244.1:c.631C=	ENSP00000497227.1:n.631C=
ENST00000650270.1:c.353C=
ENST00000273783.7:c.486C=	ENSP00000273783.3:p.Thr162=
ENST00000432982.5:c.245+1110C=
ENST00000444495.1:c.486C=	ENSP00000409142.1:p.Thr162=
ENST00000481054.5:n.487C=
ENST00000491008.5:n.450C=
ENST00000491144.5:n.834C=
ENST00000498831.1:n.441C=
NM_003907.2:c.486C=	NP_003898.2:p.Thr162=
XR_924208.1:n.1437C=
NM_003907.3:c.486C= MANE Select	NP_003898.2:p.Thr162=
XM_011513266.3:c.-416C=	XP_011511568.1:n.-416C=
XR_001740352.2:n.849C=
XR_001740353.2:n.849C=
XR_924208.2:n.849C=