Canonical Allele Identifier: CA355381859

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855479T>A (hg19) ; chr3:g.184137691T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137691T>A , CM000665.2:g.184137691T>A	GRCh38
NC_000003.11:g.183855479T>A , CM000665.1:g.183855479T>A	GRCh37
NC_000003.10:g.185338173T>A	NCBI36
NG_015826.1:g.7670T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.415T>A
ENST00000468748.7:n.375T>A
ENST00000484154.2:n.1013T>A
ENST00000491008.6:n.1140T>A
ENST00000492226.2:n.389T>A
ENST00000492773.6:c.124T>A
ENST00000647636.1:c.392T>A	ENSP00000497505.1:p.Leu131Gln
ENST00000647909.1:c.392T>A	ENSP00000498164.1:p.Leu131Gln
ENST00000648145.1:c.160T>A
ENST00000648189.1:c.142T>A
ENST00000648256.1:c.341T>A	ENSP00000497356.1:p.Leu114Gln
ENST00000648314.1:c.392T>A	ENSP00000496920.1:p.Leu131Gln
ENST00000648599.1:c.392T>A	ENSP00000497159.1:p.Leu131Gln
ENST00000648630.1:c.386T>A	ENSP00000497887.1:p.Leu129Gln
ENST00000648682.1:c.392T>A	ENSP00000498185.1:p.Leu131Gln
ENST00000648882.1:c.*218T>A	ENSP00000497603.1:n.*218T>A
ENST00000648890.1:c.392T>A	ENSP00000497503.1:p.Leu131Gln
ENST00000648915.2:c.392T>A MANE Select	ENSP00000497160.1:p.Leu131Gln
ENST00000649545.1:c.126T>A
ENST00000649688.1:c.392T>A	ENSP00000497097.1:p.Leu131Gln
ENST00000649814.1:n.441T>A
ENST00000650244.1:c.537T>A	ENSP00000497227.1:n.537T>A
ENST00000650270.1:c.259T>A
ENST00000273783.7:c.392T>A	ENSP00000273783.3:p.Leu131Gln
ENST00000432982.5:c.245+1016T>A
ENST00000444495.1:c.392T>A	ENSP00000409142.1:p.Leu131Gln
ENST00000481054.5:n.393T>A
ENST00000491008.5:n.356T>A
ENST00000491144.5:n.740T>A
ENST00000498831.1:n.347T>A
NM_003907.2:c.392T>A	NP_003898.2:p.Leu131Gln
XR_924208.1:n.1343T>A
NM_003907.3:c.392T>A MANE Select	NP_003898.2:p.Leu131Gln
XM_011513266.3:c.-510T>A	XP_011511568.1:n.-510T>A
XR_001740352.2:n.755T>A
XR_001740353.2:n.755T>A
XR_924208.2:n.755T>A