Canonical Allele Identifier: CA355384793

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858240C>G (hg19) ; chr3:g.184140452C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140452C>G , CM000665.2:g.184140452C>G	GRCh38
NC_000003.11:g.183858240C>G , CM000665.1:g.183858240C>G	GRCh37
NC_000003.10:g.185340934C>G	NCBI36
NG_015826.1:g.10431C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.901C>G
ENST00000468748.7:n.1121C>G
ENST00000484154.2:n.1387-1473C>G
ENST00000491008.6:n.1626C>G
ENST00000492226.2:n.1135C>G
ENST00000492773.6:c.632C>G
ENST00000647636.1:c.878C>G	ENSP00000497505.1:p.Ala293Gly
ENST00000647909.1:c.902C>G	ENSP00000498164.1:p.Ala301Gly
ENST00000648145.1:c.646C>G
ENST00000648189.1:c.692C>G
ENST00000648256.1:c.850C>G	ENSP00000497356.1:n.850C>G
ENST00000648314.1:c.942C>G	ENSP00000496920.1:p.Ser314Arg
ENST00000648599.1:c.*161C>G	ENSP00000497159.1:n.*161C>G
ENST00000648630.1:c.872C>G	ENSP00000497887.1:p.Ala291Gly
ENST00000648682.1:c.878C>G	ENSP00000498185.1:p.Ala293Gly
ENST00000648882.1:c.*704C>G	ENSP00000497603.1:n.*704C>G
ENST00000648890.1:c.878C>G	ENSP00000497503.1:p.Ala293Gly
ENST00000648915.2:c.878C>G MANE Select	ENSP00000497160.1:p.Ala293Gly
ENST00000649545.1:c.577+295C>G
ENST00000649688.1:c.*161C>G	ENSP00000497097.1:n.*161C>G
ENST00000649814.1:n.927C>G
ENST00000650270.1:c.745C>G
ENST00000273783.7:c.878C>G	ENSP00000273783.3:p.Ala293Gly
ENST00000432982.5:c.246-1785C>G
ENST00000444495.1:c.878C>G	ENSP00000409142.1:p.Ala293Gly
ENST00000468748.5:n.591C>G
ENST00000479833.1:n.194C>G
ENST00000481054.5:n.972C>G
ENST00000491144.5:n.1382C>G
ENST00000493740.1:n.108C>G
NM_003907.2:c.878C>G	NP_003898.2:p.Ala293Gly
XM_011513265.1:c.128C>G	XP_011511567.1:p.Ala43Gly
XM_011513266.1:c.41C>G	XP_011511568.1:p.Ala14Gly
XR_924208.1:n.1829C>G
NM_003907.3:c.878C>G MANE Select	NP_003898.2:p.Ala293Gly
XM_011513266.3:c.41C>G	XP_011511568.1:p.Ala14Gly
XR_001740352.2:n.1241C>G
XR_001740353.2:n.1241C>G
XR_924208.2:n.1241C>G