Canonical Allele Identifier: CA355381776

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855436C>A (hg19) ; chr3:g.184137648C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137648C>A , CM000665.2:g.184137648C>A	GRCh38
NC_000003.11:g.183855436C>A , CM000665.1:g.183855436C>A	GRCh37
NC_000003.10:g.185338130C>A	NCBI36
NG_015826.1:g.7627C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.372C>A
ENST00000468748.7:n.332C>A
ENST00000484154.2:n.970C>A
ENST00000491008.6:n.1097C>A
ENST00000492226.2:n.346C>A
ENST00000492773.6:c.81C>A
ENST00000647636.1:c.349C>A	ENSP00000497505.1:p.Leu117Ile
ENST00000647909.1:c.349C>A	ENSP00000498164.1:p.Leu117Ile
ENST00000648145.1:c.117C>A
ENST00000648189.1:c.99C>A
ENST00000648256.1:c.298C>A	ENSP00000497356.1:p.Leu100Ile
ENST00000648314.1:c.349C>A	ENSP00000496920.1:p.Leu117Ile
ENST00000648599.1:c.349C>A	ENSP00000497159.1:p.Leu117Ile
ENST00000648630.1:c.343C>A	ENSP00000497887.1:p.Leu115Ile
ENST00000648682.1:c.349C>A	ENSP00000498185.1:p.Leu117Ile
ENST00000648882.1:c.*175C>A	ENSP00000497603.1:n.*175C>A
ENST00000648890.1:c.349C>A	ENSP00000497503.1:p.Leu117Ile
ENST00000648915.2:c.349C>A MANE Select	ENSP00000497160.1:p.Leu117Ile
ENST00000649545.1:c.83C>A
ENST00000649688.1:c.349C>A	ENSP00000497097.1:p.Leu117Ile
ENST00000649814.1:n.398C>A
ENST00000650244.1:c.494C>A	ENSP00000497227.1:n.494C>A
ENST00000650270.1:c.216C>A
ENST00000273783.7:c.349C>A	ENSP00000273783.3:p.Leu117Ile
ENST00000432982.5:c.245+973C>A
ENST00000444495.1:c.349C>A	ENSP00000409142.1:p.Leu117Ile
ENST00000481054.5:n.350C>A
ENST00000491008.5:n.313C>A
ENST00000491144.5:n.697C>A
ENST00000498831.1:n.304C>A
NM_003907.2:c.349C>A	NP_003898.2:p.Leu117Ile
XR_924208.1:n.1300C>A
NM_003907.3:c.349C>A MANE Select	NP_003898.2:p.Leu117Ile
XM_011513266.3:c.-553C>A	XP_011511568.1:n.-553C>A
XR_001740352.2:n.712C>A
XR_001740353.2:n.712C>A
XR_924208.2:n.712C>A