Canonical Allele Identifier: CA355382083

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855585G>C (hg19) ; chr3:g.184137797G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137797G>C , CM000665.2:g.184137797G>C	GRCh38
NC_000003.11:g.183855585G>C , CM000665.1:g.183855585G>C	GRCh37
NC_000003.10:g.185338279G>C	NCBI36
NG_015826.1:g.7776G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.521G>C
ENST00000468748.7:n.481G>C
ENST00000484154.2:n.1119G>C
ENST00000491008.6:n.1246G>C
ENST00000492226.2:n.495G>C
ENST00000492773.6:c.230G>C
ENST00000647636.1:c.498G>C	ENSP00000497505.1:p.Glu166Asp
ENST00000647909.1:c.498G>C	ENSP00000498164.1:p.Glu166Asp
ENST00000648145.1:c.266G>C
ENST00000648189.1:c.248G>C
ENST00000648256.1:c.447G>C	ENSP00000497356.1:p.Glu149Asp
ENST00000648314.1:c.498G>C	ENSP00000496920.1:p.Glu166Asp
ENST00000648599.1:c.498G>C	ENSP00000497159.1:p.Glu166Asp
ENST00000648630.1:c.492G>C	ENSP00000497887.1:p.Glu164Asp
ENST00000648682.1:c.498G>C	ENSP00000498185.1:p.Glu166Asp
ENST00000648882.1:c.*324G>C	ENSP00000497603.1:n.*324G>C
ENST00000648890.1:c.498G>C	ENSP00000497503.1:p.Glu166Asp
ENST00000648915.2:c.498G>C MANE Select	ENSP00000497160.1:p.Glu166Asp
ENST00000649545.1:c.232G>C
ENST00000649688.1:c.498G>C	ENSP00000497097.1:p.Glu166Asp
ENST00000649814.1:n.547G>C
ENST00000650244.1:c.643G>C	ENSP00000497227.1:n.643G>C
ENST00000650270.1:c.365G>C
ENST00000273783.7:c.498G>C	ENSP00000273783.3:p.Glu166Asp
ENST00000432982.5:c.245+1122G>C
ENST00000444495.1:c.498G>C	ENSP00000409142.1:p.Glu166Asp
ENST00000481054.5:n.499G>C
ENST00000491008.5:n.462G>C
ENST00000491144.5:n.846G>C
ENST00000498831.1:n.453G>C
NM_003907.2:c.498G>C	NP_003898.2:p.Glu166Asp
XR_924208.1:n.1449G>C
NM_003907.3:c.498G>C MANE Select	NP_003898.2:p.Glu166Asp
XM_011513266.3:c.-404G>C	XP_011511568.1:n.-404G>C
XR_001740352.2:n.861G>C
XR_001740353.2:n.861G>C
XR_924208.2:n.861G>C