Canonical Allele Identifier: CA355384658

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1098408
• ClinVar RCV Id: RCV001420330
• dbSNP Id: rs2109008895
• MyVariant Identifiers: chr3:g.183858224C>G (hg19) ; chr3:g.184140436C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140436C>G , CM000665.2:g.184140436C>G	GRCh38
NC_000003.11:g.183858224C>G , CM000665.1:g.183858224C>G	GRCh37
NC_000003.10:g.185340918C>G	NCBI36
NG_015826.1:g.10415C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.885C>G
ENST00000468748.7:n.1105C>G
ENST00000484154.2:n.1387-1489C>G
ENST00000491008.6:n.1610C>G
ENST00000492226.2:n.1119C>G
ENST00000492773.6:c.616C>G
ENST00000647636.1:c.862C>G	ENSP00000497505.1:p.His288Asp
ENST00000647909.1:c.886C>G	ENSP00000498164.1:p.His296Asp
ENST00000648145.1:c.630C>G
ENST00000648189.1:c.676C>G
ENST00000648256.1:c.834C>G	ENSP00000497356.1:n.834C>G
ENST00000648314.1:c.926C>G	ENSP00000496920.1:p.Pro309Arg
ENST00000648599.1:c.*145C>G	ENSP00000497159.1:n.*145C>G
ENST00000648630.1:c.856C>G	ENSP00000497887.1:p.His286Asp
ENST00000648682.1:c.862C>G	ENSP00000498185.1:p.His288Asp
ENST00000648882.1:c.*688C>G	ENSP00000497603.1:n.*688C>G
ENST00000648890.1:c.862C>G	ENSP00000497503.1:p.His288Asp
ENST00000648915.2:c.862C>G MANE Select	ENSP00000497160.1:p.His288Asp
ENST00000649545.1:c.577+279C>G
ENST00000649688.1:c.*145C>G	ENSP00000497097.1:n.*145C>G
ENST00000649814.1:n.911C>G
ENST00000650270.1:c.729C>G
ENST00000273783.7:c.862C>G	ENSP00000273783.3:p.His288Asp
ENST00000432982.5:c.246-1801C>G
ENST00000444495.1:c.862C>G	ENSP00000409142.1:p.His288Asp
ENST00000468748.5:n.575C>G
ENST00000479833.1:n.178C>G
ENST00000481054.5:n.956C>G
ENST00000491144.5:n.1366C>G
ENST00000493740.1:n.92C>G
NM_003907.2:c.862C>G	NP_003898.2:p.His288Asp
XM_011513265.1:c.112C>G	XP_011511567.1:p.His38Asp
XM_011513266.1:c.25C>G	XP_011511568.1:p.His9Asp
XR_924208.1:n.1813C>G
NM_003907.3:c.862C>G MANE Select	NP_003898.2:p.His288Asp
XM_011513266.3:c.25C>G	XP_011511568.1:p.His9Asp
XR_001740352.2:n.1225C>G
XR_001740353.2:n.1225C>G
XR_924208.2:n.1225C>G