Canonical Allele Identifier: CA355384730

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858232C>G (hg19) ; chr3:g.184140444C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140444C>G , CM000665.2:g.184140444C>G	GRCh38
NC_000003.11:g.183858232C>G , CM000665.1:g.183858232C>G	GRCh37
NC_000003.10:g.185340926C>G	NCBI36
NG_015826.1:g.10423C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.893C>G
ENST00000468748.7:n.1113C>G
ENST00000484154.2:n.1387-1481C>G
ENST00000491008.6:n.1618C>G
ENST00000492226.2:n.1127C>G
ENST00000492773.6:c.624C>G
ENST00000647636.1:c.870C>G	ENSP00000497505.1:p.His290Gln
ENST00000647909.1:c.894C>G	ENSP00000498164.1:p.His298Gln
ENST00000648145.1:c.638C>G
ENST00000648189.1:c.684C>G
ENST00000648256.1:c.842C>G	ENSP00000497356.1:n.842C>G
ENST00000648314.1:c.934C>G	ENSP00000496920.1:p.Arg312Gly
ENST00000648599.1:c.*153C>G	ENSP00000497159.1:n.*153C>G
ENST00000648630.1:c.864C>G	ENSP00000497887.1:p.His288Gln
ENST00000648682.1:c.870C>G	ENSP00000498185.1:p.His290Gln
ENST00000648882.1:c.*696C>G	ENSP00000497603.1:n.*696C>G
ENST00000648890.1:c.870C>G	ENSP00000497503.1:p.His290Gln
ENST00000648915.2:c.870C>G MANE Select	ENSP00000497160.1:p.His290Gln
ENST00000649545.1:c.577+287C>G
ENST00000649688.1:c.*153C>G	ENSP00000497097.1:n.*153C>G
ENST00000649814.1:n.919C>G
ENST00000650270.1:c.737C>G
ENST00000273783.7:c.870C>G	ENSP00000273783.3:p.His290Gln
ENST00000432982.5:c.246-1793C>G
ENST00000444495.1:c.870C>G	ENSP00000409142.1:p.His290Gln
ENST00000468748.5:n.583C>G
ENST00000479833.1:n.186C>G
ENST00000481054.5:n.964C>G
ENST00000491144.5:n.1374C>G
ENST00000493740.1:n.100C>G
NM_003907.2:c.870C>G	NP_003898.2:p.His290Gln
XM_011513265.1:c.120C>G	XP_011511567.1:p.His40Gln
XM_011513266.1:c.33C>G	XP_011511568.1:p.His11Gln
XR_924208.1:n.1821C>G
NM_003907.3:c.870C>G MANE Select	NP_003898.2:p.His290Gln
XM_011513266.3:c.33C>G	XP_011511568.1:p.His11Gln
XR_001740352.2:n.1233C>G
XR_001740353.2:n.1233C>G
XR_924208.2:n.1233C>G