Canonical Allele Identifier: CA355381593

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183854479T>A (hg19) ; chr3:g.184136691T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136691T>A , CM000665.2:g.184136691T>A	GRCh38
NC_000003.11:g.183854479T>A , CM000665.1:g.183854479T>A	GRCh37
NC_000003.10:g.185337173T>A	NCBI36
NG_015826.1:g.6670T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.275T>A	ENSP00000414775.1:p.Phe92Tyr
ENST00000465218.3:n.298T>A
ENST00000468748.7:n.258T>A
ENST00000471832.2:c.*269T>A	ENSP00000497786.1:n.*269T>A
ENST00000484154.2:n.13T>A
ENST00000491008.6:n.140T>A
ENST00000492226.2:n.272T>A
ENST00000492773.6:c.7T>A
ENST00000647636.1:c.275T>A	ENSP00000497505.1:p.Phe92Tyr
ENST00000647909.1:c.275T>A	ENSP00000498164.1:p.Phe92Tyr
ENST00000648145.1:c.43T>A
ENST00000648189.1:c.25T>A
ENST00000648256.1:c.224T>A	ENSP00000497356.1:p.Phe75Tyr
ENST00000648314.1:c.275T>A	ENSP00000496920.1:p.Phe92Tyr
ENST00000648599.1:c.275T>A	ENSP00000497159.1:p.Phe92Tyr
ENST00000648630.1:c.269T>A	ENSP00000497887.1:p.Phe90Tyr
ENST00000648682.1:c.275T>A	ENSP00000498185.1:p.Phe92Tyr
ENST00000648882.1:c.*101T>A	ENSP00000497603.1:n.*101T>A
ENST00000648890.1:c.275T>A	ENSP00000497503.1:p.Phe92Tyr
ENST00000648915.2:c.275T>A MANE Select	ENSP00000497160.1:p.Phe92Tyr
ENST00000649545.1:c.9T>A
ENST00000649688.1:c.275T>A	ENSP00000497097.1:p.Phe92Tyr
ENST00000649814.1:n.324T>A
ENST00000650244.1:c.420T>A	ENSP00000497227.1:n.420T>A
ENST00000650270.1:c.142T>A
ENST00000273783.7:c.275T>A	ENSP00000273783.3:p.Phe92Tyr
ENST00000432569.1:c.275T>A	ENSP00000414775.1:p.Phe92Tyr
ENST00000432982.5:c.245+16T>A
ENST00000444495.1:c.275T>A	ENSP00000409142.1:p.Phe92Tyr
ENST00000471832.1:n.206T>A
ENST00000481054.5:n.276T>A
ENST00000491144.5:n.623T>A
ENST00000498831.1:n.131T>A
NM_003907.2:c.275T>A	NP_003898.2:p.Phe92Tyr
XR_924208.1:n.1226T>A
NM_003907.3:c.275T>A MANE Select	NP_003898.2:p.Phe92Tyr
XM_011513266.3:c.-627T>A	XP_011511568.1:n.-627T>A
XR_001740352.2:n.638T>A
XR_001740353.2:n.638T>A
XR_924208.2:n.638T>A