Canonical Allele Identifier: CA88842873

Gene: EIF2B5

Linked Data

• dbSNP Id: rs113994063
• MyVariant Identifiers: chr3:g.183858305C>G (hg19) ; chr3:g.184140517C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140517C>G , CM000665.2:g.184140517C>G	GRCh38
NC_000003.11:g.183858305C>G , CM000665.1:g.183858305C>G	GRCh37
NC_000003.10:g.185340999C>G	NCBI36
NG_015826.1:g.10496C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.966C>G
ENST00000468748.7:n.1186C>G
ENST00000484154.2:n.1387-1408C>G
ENST00000491008.6:n.1691C>G
ENST00000492226.2:n.1200C>G
ENST00000492773.6:c.697C>G
ENST00000647636.1:c.943C>G	ENSP00000497505.1:p.Arg315Gly
ENST00000647909.1:c.967C>G	ENSP00000498164.1:p.Arg323Gly
ENST00000648145.1:c.711C>G
ENST00000648189.1:c.757C>G
ENST00000648256.1:c.915C>G	ENSP00000497356.1:n.915C>G
ENST00000648314.1:c.*62C>G	ENSP00000496920.1:n.*62C>G
ENST00000648599.1:c.*226C>G	ENSP00000497159.1:n.*226C>G
ENST00000648630.1:c.937C>G	ENSP00000497887.1:p.Arg313Gly
ENST00000648682.1:c.943C>G	ENSP00000498185.1:p.Arg315Gly
ENST00000648882.1:c.*769C>G	ENSP00000497603.1:n.*769C>G
ENST00000648890.1:c.943C>G	ENSP00000497503.1:p.Arg315Gly
ENST00000648915.2:c.943C>G MANE Select	ENSP00000497160.1:p.Arg315Gly
ENST00000649545.1:c.577+360C>G
ENST00000649688.1:c.*226C>G	ENSP00000497097.1:n.*226C>G
ENST00000649814.1:n.992C>G
ENST00000650270.1:c.810C>G
ENST00000273783.7:c.943C>G	ENSP00000273783.3:p.Arg315Gly
ENST00000432982.5:c.246-1720C>G
ENST00000444495.1:c.943C>G	ENSP00000409142.1:p.Arg315Gly
ENST00000468748.5:n.656C>G
ENST00000479833.1:n.259C>G
ENST00000481054.5:n.1037C>G
ENST00000491144.5:n.1447C>G
ENST00000493740.1:n.173C>G
NM_003907.2:c.943C>G	NP_003898.2:p.Arg315Gly
XM_011513265.1:c.193C>G	XP_011511567.1:p.Arg65Gly
XM_011513266.1:c.106C>G	XP_011511568.1:p.Arg36Gly
XR_924208.1:n.1894C>G
NM_003907.3:c.943C>G MANE Select	NP_003898.2:p.Arg315Gly
XM_011513266.3:c.106C>G	XP_011511568.1:p.Arg36Gly
XR_001740352.2:n.1306C>G
XR_001740353.2:n.1306C>G
XR_924208.2:n.1306C>G