Canonical Allele Identifier: CA437147754

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859744G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141956G>A , CM000665.2:g.184141956G>A	GRCh38
NC_000003.11:g.183859744G>A , CM000665.1:g.183859744G>A	GRCh37
NC_000003.10:g.185342438G>A	NCBI36
NG_015826.1:g.11935G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1211G>A
ENST00000468748.7:n.1431G>A
ENST00000484154.2:n.1418G>A
ENST00000491008.6:n.1936G>A
ENST00000492226.2:n.1455G>A
ENST00000492773.6:c.942G>A
ENST00000647636.1:c.*37G>A	ENSP00000497505.1:n.*37G>A
ENST00000647909.1:c.1212G>A	ENSP00000498164.1:p.Leu404=
ENST00000648145.1:c.960G>A
ENST00000648189.1:c.1006G>A
ENST00000648256.1:c.1160G>A	ENSP00000497356.1:n.1160G>A
ENST00000648314.1:c.*307G>A	ENSP00000496920.1:n.*307G>A
ENST00000648599.1:c.*471G>A	ENSP00000497159.1:n.*471G>A
ENST00000648630.1:c.1067G>A	ENSP00000497887.1:p.Cys356Tyr
ENST00000648682.1:c.*28G>A	ENSP00000498185.1:n.*28G>A
ENST00000648882.1:c.*1014G>A	ENSP00000497603.1:n.*1014G>A
ENST00000648890.1:c.1188G>A	ENSP00000497503.1:p.Leu396=
ENST00000648915.2:c.1188G>A MANE Select	ENSP00000497160.1:p.Leu396=
ENST00000649545.1:c.609G>A
ENST00000649688.1:c.*481G>A	ENSP00000497097.1:n.*481G>A
ENST00000649814.1:n.1237G>A
ENST00000650270.1:c.1055G>A
ENST00000273783.7:c.1188G>A	ENSP00000273783.3:p.Leu396=
ENST00000432982.5:c.246-281G>A
ENST00000444495.1:c.1188G>A	ENSP00000409142.1:p.Leu396=
ENST00000479833.1:n.389G>A
ENST00000481054.5:n.1282G>A
ENST00000491144.5:n.1692G>A
ENST00000492773.5:n.71G>A
NM_003907.2:c.1188G>A	NP_003898.2:p.Leu396=
XM_011513265.1:c.438G>A	XP_011511567.1:p.Leu146=
XM_011513266.1:c.351G>A	XP_011511568.1:p.Leu117=
XR_924208.1:n.2139G>A
NM_003907.3:c.1188G>A MANE Select	NP_003898.2:p.Leu396=
XM_011513266.3:c.351G>A	XP_011511568.1:p.Leu117=
XR_001740352.2:n.1551G>A
XR_001740353.2:n.1551G>A
XR_924208.2:n.1551G>A