Canonical Allele Identifier: CA355381788

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855442G>A (hg19) ; chr3:g.184137654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137654G>A , CM000665.2:g.184137654G>A	GRCh38
NC_000003.11:g.183855442G>A , CM000665.1:g.183855442G>A	GRCh37
NC_000003.10:g.185338136G>A	NCBI36
NG_015826.1:g.7633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.378G>A
ENST00000468748.7:n.338G>A
ENST00000484154.2:n.976G>A
ENST00000491008.6:n.1103G>A
ENST00000492226.2:n.352G>A
ENST00000492773.6:c.87G>A
ENST00000647636.1:c.355G>A	ENSP00000497505.1:p.Val119Met
ENST00000647909.1:c.355G>A	ENSP00000498164.1:p.Val119Met
ENST00000648145.1:c.123G>A
ENST00000648189.1:c.105G>A
ENST00000648256.1:c.304G>A	ENSP00000497356.1:p.Val102Met
ENST00000648314.1:c.355G>A	ENSP00000496920.1:p.Val119Met
ENST00000648599.1:c.355G>A	ENSP00000497159.1:p.Val119Met
ENST00000648630.1:c.349G>A	ENSP00000497887.1:p.Val117Met
ENST00000648682.1:c.355G>A	ENSP00000498185.1:p.Val119Met
ENST00000648882.1:c.*181G>A	ENSP00000497603.1:n.*181G>A
ENST00000648890.1:c.355G>A	ENSP00000497503.1:p.Val119Met
ENST00000648915.2:c.355G>A MANE Select	ENSP00000497160.1:p.Val119Met
ENST00000649545.1:c.89G>A
ENST00000649688.1:c.355G>A	ENSP00000497097.1:p.Val119Met
ENST00000649814.1:n.404G>A
ENST00000650244.1:c.500G>A	ENSP00000497227.1:n.500G>A
ENST00000650270.1:c.222G>A
ENST00000273783.7:c.355G>A	ENSP00000273783.3:p.Val119Met
ENST00000432982.5:c.245+979G>A
ENST00000444495.1:c.355G>A	ENSP00000409142.1:p.Val119Met
ENST00000481054.5:n.356G>A
ENST00000491008.5:n.319G>A
ENST00000491144.5:n.703G>A
ENST00000498831.1:n.310G>A
NM_003907.2:c.355G>A	NP_003898.2:p.Val119Met
XR_924208.1:n.1306G>A
NM_003907.3:c.355G>A MANE Select	NP_003898.2:p.Val119Met
XM_011513266.3:c.-547G>A	XP_011511568.1:n.-547G>A
XR_001740352.2:n.718G>A
XR_001740353.2:n.718G>A
XR_924208.2:n.718G>A