Canonical Allele Identifier: CA1425882926

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137972C= , CM000665.2:g.184137972C=	GRCh38
NC_000003.11:g.183855760C= , CM000665.1:g.183855760C=	GRCh37
NC_000003.10:g.185338454C=	NCBI36
NG_015826.1:g.7951C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.604C=
ENST00000468748.7:n.564C=
ENST00000484154.2:n.1202C=
ENST00000491008.6:n.1329C=
ENST00000492226.2:n.578C=
ENST00000492773.6:c.313C=
ENST00000647636.1:c.581C=	ENSP00000497505.1:p.Thr194=
ENST00000647909.1:c.605C=	ENSP00000498164.1:p.Thr202=
ENST00000648145.1:c.349C=
ENST00000648189.1:c.331C=
ENST00000648256.1:c.530C=	ENSP00000497356.1:p.Thr177=
ENST00000648314.1:c.581C=	ENSP00000496920.1:p.Thr194=
ENST00000648599.1:c.581C=	ENSP00000497159.1:p.Thr194=
ENST00000648630.1:c.575C=	ENSP00000497887.1:p.Thr192=
ENST00000648682.1:c.581C=	ENSP00000498185.1:p.Thr194=
ENST00000648882.1:c.*407C=	ENSP00000497603.1:n.*407C=
ENST00000648890.1:c.581C=	ENSP00000497503.1:p.Thr194=
ENST00000648915.2:c.581C= MANE Select	ENSP00000497160.1:p.Thr194=
ENST00000649545.1:c.315C=
ENST00000649688.1:c.581C=	ENSP00000497097.1:p.Thr194=
ENST00000649814.1:n.630C=
ENST00000650270.1:c.448C=
ENST00000273783.7:c.581C=	ENSP00000273783.3:p.Thr194=
ENST00000432982.5:c.245+1297C=
ENST00000444495.1:c.581C=	ENSP00000409142.1:p.Thr194=
ENST00000468748.5:n.34C=
ENST00000481054.5:n.582C=
ENST00000491008.5:n.545C=
ENST00000491144.5:n.1021C=
ENST00000498831.1:n.536C=
NM_003907.2:c.581C=	NP_003898.2:p.Thr194=
XR_924208.1:n.1532C=
NM_003907.3:c.581C= MANE Select	NP_003898.2:p.Thr194=
XM_011513266.3:c.-321C=	XP_011511568.1:n.-321C=
XR_001740352.2:n.944C=
XR_001740353.2:n.944C=
XR_924208.2:n.944C=