Canonical Allele Identifier: CA355382120

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855687T>A (hg19) ; chr3:g.184137899T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137899T>A , CM000665.2:g.184137899T>A	GRCh38
NC_000003.11:g.183855687T>A , CM000665.1:g.183855687T>A	GRCh37
NC_000003.10:g.185338381T>A	NCBI36
NG_015826.1:g.7878T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.531T>A
ENST00000468748.7:n.491T>A
ENST00000484154.2:n.1129T>A
ENST00000491008.6:n.1256T>A
ENST00000492226.2:n.505T>A
ENST00000492773.6:c.240T>A
ENST00000647636.1:c.508T>A	ENSP00000497505.1:p.Leu170Met
ENST00000647909.1:c.532T>A	ENSP00000498164.1:p.Leu178Met
ENST00000648145.1:c.276T>A
ENST00000648189.1:c.258T>A
ENST00000648256.1:c.457T>A	ENSP00000497356.1:p.Leu153Met
ENST00000648314.1:c.508T>A	ENSP00000496920.1:p.Leu170Met
ENST00000648599.1:c.508T>A	ENSP00000497159.1:p.Leu170Met
ENST00000648630.1:c.502T>A	ENSP00000497887.1:p.Leu168Met
ENST00000648682.1:c.508T>A	ENSP00000498185.1:p.Leu170Met
ENST00000648882.1:c.*334T>A	ENSP00000497603.1:n.*334T>A
ENST00000648890.1:c.508T>A	ENSP00000497503.1:p.Leu170Met
ENST00000648915.2:c.508T>A MANE Select	ENSP00000497160.1:p.Leu170Met
ENST00000649545.1:c.242T>A
ENST00000649688.1:c.508T>A	ENSP00000497097.1:p.Leu170Met
ENST00000649814.1:n.557T>A
ENST00000650244.1:c.653T>A	ENSP00000497227.1:n.653T>A
ENST00000650270.1:c.375T>A
ENST00000273783.7:c.508T>A	ENSP00000273783.3:p.Leu170Met
ENST00000432982.5:c.245+1224T>A
ENST00000444495.1:c.508T>A	ENSP00000409142.1:p.Leu170Met
ENST00000481054.5:n.509T>A
ENST00000491008.5:n.472T>A
ENST00000491144.5:n.948T>A
ENST00000498831.1:n.463T>A
NM_003907.2:c.508T>A	NP_003898.2:p.Leu170Met
XR_924208.1:n.1459T>A
NM_003907.3:c.508T>A MANE Select	NP_003898.2:p.Leu170Met
XM_011513266.3:c.-394T>A	XP_011511568.1:n.-394T>A
XR_001740352.2:n.871T>A
XR_001740353.2:n.871T>A
XR_924208.2:n.871T>A