Canonical Allele Identifier: CA355384761

Gene: EIF2B5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.895T>C
ENST00000468748.7:n.1115T>C
ENST00000484154.2:n.1387-1479T>C
ENST00000491008.6:n.1620T>C
ENST00000492226.2:n.1129T>C
ENST00000492773.6:c.626T>C
ENST00000647636.1:c.872T>C	ENSP00000497505.1:p.Val291Ala
ENST00000647909.1:c.896T>C	ENSP00000498164.1:p.Val299Ala
ENST00000648145.1:c.640T>C
ENST00000648189.1:c.686T>C
ENST00000648256.1:c.844T>C	ENSP00000497356.1:n.844T>C
ENST00000648314.1:c.936T>C	ENSP00000496920.1:p.Arg312=
ENST00000648599.1:c.*155T>C	ENSP00000497159.1:n.*155T>C
ENST00000648630.1:c.866T>C	ENSP00000497887.1:p.Val289Ala
ENST00000648682.1:c.872T>C	ENSP00000498185.1:p.Val291Ala
ENST00000648882.1:c.*698T>C	ENSP00000497603.1:n.*698T>C
ENST00000648890.1:c.872T>C	ENSP00000497503.1:p.Val291Ala
ENST00000648915.2:c.872T>C MANE Select	ENSP00000497160.1:p.Val291Ala
ENST00000649545.1:c.577+289T>C
ENST00000649688.1:c.*155T>C	ENSP00000497097.1:n.*155T>C
ENST00000649814.1:n.921T>C
ENST00000650270.1:c.739T>C
ENST00000273783.7:c.872T>C	ENSP00000273783.3:p.Val291Ala
ENST00000432982.5:c.246-1791T>C
ENST00000444495.1:c.872T>C	ENSP00000409142.1:p.Val291Ala
ENST00000468748.5:n.585T>C
ENST00000479833.1:n.188T>C
ENST00000481054.5:n.966T>C
ENST00000491144.5:n.1376T>C
ENST00000493740.1:n.102T>C
NM_003907.2:c.872T>C	NP_003898.2:p.Val291Ala
XM_011513265.1:c.122T>C	XP_011511567.1:p.Val41Ala
XM_011513266.1:c.35T>C	XP_011511568.1:p.Val12Ala
XR_924208.1:n.1823T>C
NM_003907.3:c.872T>C MANE Select	NP_003898.2:p.Val291Ala
XM_011513266.3:c.35T>C	XP_011511568.1:p.Val12Ala
XR_001740352.2:n.1235T>C
XR_001740353.2:n.1235T>C
XR_924208.2:n.1235T>C