Canonical Allele Identifier: CA355382296

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855768C>A (hg19) ; chr3:g.184137980C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137980C>A , CM000665.2:g.184137980C>A	GRCh38
NC_000003.11:g.183855768C>A , CM000665.1:g.183855768C>A	GRCh37
NC_000003.10:g.185338462C>A	NCBI36
NG_015826.1:g.7959C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.612C>A
ENST00000468748.7:n.572C>A
ENST00000484154.2:n.1210C>A
ENST00000491008.6:n.1337C>A
ENST00000492226.2:n.586C>A
ENST00000492773.6:c.321C>A
ENST00000647636.1:c.589C>A	ENSP00000497505.1:p.His197Asn
ENST00000647909.1:c.613C>A	ENSP00000498164.1:p.His205Asn
ENST00000648145.1:c.357C>A
ENST00000648189.1:c.339C>A
ENST00000648256.1:c.538C>A	ENSP00000497356.1:p.His180Asn
ENST00000648314.1:c.589C>A	ENSP00000496920.1:p.His197Asn
ENST00000648599.1:c.589C>A	ENSP00000497159.1:p.His197Asn
ENST00000648630.1:c.583C>A	ENSP00000497887.1:p.His195Asn
ENST00000648682.1:c.589C>A	ENSP00000498185.1:p.His197Asn
ENST00000648882.1:c.*415C>A	ENSP00000497603.1:n.*415C>A
ENST00000648890.1:c.589C>A	ENSP00000497503.1:p.His197Asn
ENST00000648915.2:c.589C>A MANE Select	ENSP00000497160.1:p.His197Asn
ENST00000649545.1:c.323C>A
ENST00000649688.1:c.589C>A	ENSP00000497097.1:p.His197Asn
ENST00000649814.1:n.638C>A
ENST00000650270.1:c.456C>A
ENST00000273783.7:c.589C>A	ENSP00000273783.3:p.His197Asn
ENST00000432982.5:c.245+1305C>A
ENST00000444495.1:c.589C>A	ENSP00000409142.1:p.His197Asn
ENST00000468748.5:n.42C>A
ENST00000481054.5:n.590C>A
ENST00000491008.5:n.553C>A
ENST00000491144.5:n.1029C>A
ENST00000498831.1:n.544C>A
NM_003907.2:c.589C>A	NP_003898.2:p.His197Asn
XR_924208.1:n.1540C>A
NM_003907.3:c.589C>A MANE Select	NP_003898.2:p.His197Asn
XM_011513266.3:c.-313C>A	XP_011511568.1:n.-313C>A
XR_001740352.2:n.952C>A
XR_001740353.2:n.952C>A
XR_924208.2:n.952C>A