Canonical Allele Identifier: CA437323768

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1156467
• ClinVar RCV Id: RCV001499120
• dbSNP Id: rs1024066059
• MyVariant Identifiers: chr3:g.183858235A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140447A>G , CM000665.2:g.184140447A>G	GRCh38
NC_000003.11:g.183858235A>G , CM000665.1:g.183858235A>G	GRCh37
NC_000003.10:g.185340929A>G	NCBI36
NG_015826.1:g.10426A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.896A>G
ENST00000468748.7:n.1116A>G
ENST00000484154.2:n.1387-1478A>G
ENST00000491008.6:n.1621A>G
ENST00000492226.2:n.1130A>G
ENST00000492773.6:c.627A>G
ENST00000647636.1:c.873A>G	ENSP00000497505.1:p.Val291=
ENST00000647909.1:c.897A>G	ENSP00000498164.1:p.Val299=
ENST00000648145.1:c.641A>G
ENST00000648189.1:c.687A>G
ENST00000648256.1:c.845A>G	ENSP00000497356.1:n.845A>G
ENST00000648314.1:c.937A>G	ENSP00000496920.1:p.Asn313Asp
ENST00000648599.1:c.*156A>G	ENSP00000497159.1:n.*156A>G
ENST00000648630.1:c.867A>G	ENSP00000497887.1:p.Val289=
ENST00000648682.1:c.873A>G	ENSP00000498185.1:p.Val291=
ENST00000648882.1:c.*699A>G	ENSP00000497603.1:n.*699A>G
ENST00000648890.1:c.873A>G	ENSP00000497503.1:p.Val291=
ENST00000648915.2:c.873A>G MANE Select	ENSP00000497160.1:p.Val291=
ENST00000649545.1:c.577+290A>G
ENST00000649688.1:c.*156A>G	ENSP00000497097.1:n.*156A>G
ENST00000649814.1:n.922A>G
ENST00000650270.1:c.740A>G
ENST00000273783.7:c.873A>G	ENSP00000273783.3:p.Val291=
ENST00000432982.5:c.246-1790A>G
ENST00000444495.1:c.873A>G	ENSP00000409142.1:p.Val291=
ENST00000468748.5:n.586A>G
ENST00000479833.1:n.189A>G
ENST00000481054.5:n.967A>G
ENST00000491144.5:n.1377A>G
ENST00000493740.1:n.103A>G
NM_003907.2:c.873A>G	NP_003898.2:p.Val291=
XM_011513265.1:c.123A>G	XP_011511567.1:p.Val41=
XM_011513266.1:c.36A>G	XP_011511568.1:p.Val12=
XR_924208.1:n.1824A>G
NM_003907.3:c.873A>G MANE Select	NP_003898.2:p.Val291=
XM_011513266.3:c.36A>G	XP_011511568.1:p.Val12=
XR_001740352.2:n.1236A>G
XR_001740353.2:n.1236A>G
XR_924208.2:n.1236A>G