Canonical Allele Identifier: CA437323302

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855438C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137650C>A , CM000665.2:g.184137650C>A	GRCh38
NC_000003.11:g.183855438C>A , CM000665.1:g.183855438C>A	GRCh37
NC_000003.10:g.185338132C>A	NCBI36
NG_015826.1:g.7629C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.374C>A
ENST00000468748.7:n.334C>A
ENST00000484154.2:n.972C>A
ENST00000491008.6:n.1099C>A
ENST00000492226.2:n.348C>A
ENST00000492773.6:c.83C>A
ENST00000647636.1:c.351C>A	ENSP00000497505.1:p.Leu117=
ENST00000647909.1:c.351C>A	ENSP00000498164.1:p.Leu117=
ENST00000648145.1:c.119C>A
ENST00000648189.1:c.101C>A
ENST00000648256.1:c.300C>A	ENSP00000497356.1:p.Leu100=
ENST00000648314.1:c.351C>A	ENSP00000496920.1:p.Leu117=
ENST00000648599.1:c.351C>A	ENSP00000497159.1:p.Leu117=
ENST00000648630.1:c.345C>A	ENSP00000497887.1:p.Leu115=
ENST00000648682.1:c.351C>A	ENSP00000498185.1:p.Leu117=
ENST00000648882.1:c.*177C>A	ENSP00000497603.1:n.*177C>A
ENST00000648890.1:c.351C>A	ENSP00000497503.1:p.Leu117=
ENST00000648915.2:c.351C>A MANE Select	ENSP00000497160.1:p.Leu117=
ENST00000649545.1:c.85C>A
ENST00000649688.1:c.351C>A	ENSP00000497097.1:p.Leu117=
ENST00000649814.1:n.400C>A
ENST00000650244.1:c.496C>A	ENSP00000497227.1:n.496C>A
ENST00000650270.1:c.218C>A
ENST00000273783.7:c.351C>A	ENSP00000273783.3:p.Leu117=
ENST00000432982.5:c.245+975C>A
ENST00000444495.1:c.351C>A	ENSP00000409142.1:p.Leu117=
ENST00000481054.5:n.352C>A
ENST00000491008.5:n.315C>A
ENST00000491144.5:n.699C>A
ENST00000498831.1:n.306C>A
NM_003907.2:c.351C>A	NP_003898.2:p.Leu117=
XR_924208.1:n.1302C>A
NM_003907.3:c.351C>A MANE Select	NP_003898.2:p.Leu117=
XM_011513266.3:c.-551C>A	XP_011511568.1:n.-551C>A
XR_001740352.2:n.714C>A
XR_001740353.2:n.714C>A
XR_924208.2:n.714C>A