Canonical Allele Identifier: CA355382333

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855784T>A (hg19) ; chr3:g.184137996T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137996T>A , CM000665.2:g.184137996T>A	GRCh38
NC_000003.11:g.183855784T>A , CM000665.1:g.183855784T>A	GRCh37
NC_000003.10:g.185338478T>A	NCBI36
NG_015826.1:g.7975T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.628T>A
ENST00000468748.7:n.588T>A
ENST00000484154.2:n.1226T>A
ENST00000491008.6:n.1353T>A
ENST00000492226.2:n.602T>A
ENST00000492773.6:c.337T>A
ENST00000647636.1:c.605T>A	ENSP00000497505.1:p.Val202Glu
ENST00000647909.1:c.629T>A	ENSP00000498164.1:p.Val210Glu
ENST00000648145.1:c.373T>A
ENST00000648189.1:c.355T>A
ENST00000648256.1:c.554T>A	ENSP00000497356.1:p.Val185Glu
ENST00000648314.1:c.605T>A	ENSP00000496920.1:p.Val202Glu
ENST00000648599.1:c.605T>A	ENSP00000497159.1:p.Val202Glu
ENST00000648630.1:c.599T>A	ENSP00000497887.1:p.Val200Glu
ENST00000648682.1:c.605T>A	ENSP00000498185.1:p.Val202Glu
ENST00000648882.1:c.*431T>A	ENSP00000497603.1:n.*431T>A
ENST00000648890.1:c.605T>A	ENSP00000497503.1:p.Val202Glu
ENST00000648915.2:c.605T>A MANE Select	ENSP00000497160.1:p.Val202Glu
ENST00000649545.1:c.339T>A
ENST00000649688.1:c.605T>A	ENSP00000497097.1:p.Val202Glu
ENST00000649814.1:n.654T>A
ENST00000650270.1:c.472T>A
ENST00000273783.7:c.605T>A	ENSP00000273783.3:p.Val202Glu
ENST00000432982.5:c.245+1321T>A
ENST00000444495.1:c.605T>A	ENSP00000409142.1:p.Val202Glu
ENST00000468748.5:n.58T>A
ENST00000481054.5:n.606T>A
ENST00000491008.5:n.569T>A
ENST00000491144.5:n.1045T>A
ENST00000498831.1:n.560T>A
NM_003907.2:c.605T>A	NP_003898.2:p.Val202Glu
XR_924208.1:n.1556T>A
NM_003907.3:c.605T>A MANE Select	NP_003898.2:p.Val202Glu
XM_011513266.3:c.-297T>A	XP_011511568.1:n.-297T>A
XR_001740352.2:n.968T>A
XR_001740353.2:n.968T>A
XR_924208.2:n.968T>A