Canonical Allele Identifier: CA355382099

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855591C>A (hg19) ; chr3:g.184137803C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137803C>A , CM000665.2:g.184137803C>A	GRCh38
NC_000003.11:g.183855591C>A , CM000665.1:g.183855591C>A	GRCh37
NC_000003.10:g.185338285C>A	NCBI36
NG_015826.1:g.7782C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.527C>A
ENST00000468748.7:n.487C>A
ENST00000484154.2:n.1125C>A
ENST00000491008.6:n.1252C>A
ENST00000492226.2:n.501C>A
ENST00000492773.6:c.236C>A
ENST00000647636.1:c.504C>A	ENSP00000497505.1:p.His168Gln
ENST00000647909.1:c.504C>A	ENSP00000498164.1:p.His168Gln
ENST00000648145.1:c.272C>A
ENST00000648189.1:c.254C>A
ENST00000648256.1:c.453C>A	ENSP00000497356.1:p.His151Gln
ENST00000648314.1:c.504C>A	ENSP00000496920.1:p.His168Gln
ENST00000648599.1:c.504C>A	ENSP00000497159.1:p.His168Gln
ENST00000648630.1:c.498C>A	ENSP00000497887.1:p.His166Gln
ENST00000648682.1:c.504C>A	ENSP00000498185.1:p.His168Gln
ENST00000648882.1:c.*330C>A	ENSP00000497603.1:n.*330C>A
ENST00000648890.1:c.504C>A	ENSP00000497503.1:p.His168Gln
ENST00000648915.2:c.504C>A MANE Select	ENSP00000497160.1:p.His168Gln
ENST00000649545.1:c.238C>A
ENST00000649688.1:c.504C>A	ENSP00000497097.1:p.His168Gln
ENST00000649814.1:n.553C>A
ENST00000650244.1:c.649C>A	ENSP00000497227.1:n.649C>A
ENST00000650270.1:c.371C>A
ENST00000273783.7:c.504C>A	ENSP00000273783.3:p.His168Gln
ENST00000432982.5:c.245+1128C>A
ENST00000444495.1:c.504C>A	ENSP00000409142.1:p.His168Gln
ENST00000481054.5:n.505C>A
ENST00000491008.5:n.468C>A
ENST00000491144.5:n.852C>A
ENST00000498831.1:n.459C>A
NM_003907.2:c.504C>A	NP_003898.2:p.His168Gln
XR_924208.1:n.1455C>A
NM_003907.3:c.504C>A MANE Select	NP_003898.2:p.His168Gln
XM_011513266.3:c.-398C>A	XP_011511568.1:n.-398C>A
XR_001740352.2:n.867C>A
XR_001740353.2:n.867C>A
XR_924208.2:n.867C>A