Canonical Allele Identifier: CA355384751

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858234T>A (hg19) ; chr3:g.184140446T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140446T>A , CM000665.2:g.184140446T>A	GRCh38
NC_000003.11:g.183858234T>A , CM000665.1:g.183858234T>A	GRCh37
NC_000003.10:g.185340928T>A	NCBI36
NG_015826.1:g.10425T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.895T>A
ENST00000468748.7:n.1115T>A
ENST00000484154.2:n.1387-1479T>A
ENST00000491008.6:n.1620T>A
ENST00000492226.2:n.1129T>A
ENST00000492773.6:c.626T>A
ENST00000647636.1:c.872T>A	ENSP00000497505.1:p.Val291Glu
ENST00000647909.1:c.896T>A	ENSP00000498164.1:p.Val299Glu
ENST00000648145.1:c.640T>A
ENST00000648189.1:c.686T>A
ENST00000648256.1:c.844T>A	ENSP00000497356.1:n.844T>A
ENST00000648314.1:c.936T>A	ENSP00000496920.1:p.Arg312=
ENST00000648599.1:c.*155T>A	ENSP00000497159.1:n.*155T>A
ENST00000648630.1:c.866T>A	ENSP00000497887.1:p.Val289Glu
ENST00000648682.1:c.872T>A	ENSP00000498185.1:p.Val291Glu
ENST00000648882.1:c.*698T>A	ENSP00000497603.1:n.*698T>A
ENST00000648890.1:c.872T>A	ENSP00000497503.1:p.Val291Glu
ENST00000648915.2:c.872T>A MANE Select	ENSP00000497160.1:p.Val291Glu
ENST00000649545.1:c.577+289T>A
ENST00000649688.1:c.*155T>A	ENSP00000497097.1:n.*155T>A
ENST00000649814.1:n.921T>A
ENST00000650270.1:c.739T>A
ENST00000273783.7:c.872T>A	ENSP00000273783.3:p.Val291Glu
ENST00000432982.5:c.246-1791T>A
ENST00000444495.1:c.872T>A	ENSP00000409142.1:p.Val291Glu
ENST00000468748.5:n.585T>A
ENST00000479833.1:n.188T>A
ENST00000481054.5:n.966T>A
ENST00000491144.5:n.1376T>A
ENST00000493740.1:n.102T>A
NM_003907.2:c.872T>A	NP_003898.2:p.Val291Glu
XM_011513265.1:c.122T>A	XP_011511567.1:p.Val41Glu
XM_011513266.1:c.35T>A	XP_011511568.1:p.Val12Glu
XR_924208.1:n.1823T>A
NM_003907.3:c.872T>A MANE Select	NP_003898.2:p.Val291Glu
XM_011513266.3:c.35T>A	XP_011511568.1:p.Val12Glu
XR_001740352.2:n.1235T>A
XR_001740353.2:n.1235T>A
XR_924208.2:n.1235T>A