Canonical Allele Identifier: CA355381143

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2092314
• ClinVar RCV Id: RCV002991844
• gnomAD v4: 3-184135444-G-A
• MyVariant Identifiers: chr3:g.183853232G>A (hg19) ; chr3:g.184135444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135444G>A , CM000665.2:g.184135444G>A	GRCh38
NC_000003.11:g.183853232G>A , CM000665.1:g.183853232G>A	GRCh37
NC_000003.10:g.185335926G>A	NCBI36
NG_015826.1:g.5423G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.59G>A	ENSP00000414775.1:p.Ser20Asn
ENST00000465218.3:n.82G>A
ENST00000468748.7:n.42G>A
ENST00000471832.2:c.59G>A	ENSP00000497786.1:p.Ser20Asn
ENST00000492226.2:n.56G>A
ENST00000647636.1:c.59G>A	ENSP00000497505.1:p.Ser20Asn
ENST00000647909.1:c.59G>A	ENSP00000498164.1:p.Ser20Asn
ENST00000648256.1:c.8G>A	ENSP00000497356.1:p.Ser3Asn
ENST00000648314.1:c.59G>A	ENSP00000496920.1:p.Ser20Asn
ENST00000648599.1:c.59G>A	ENSP00000497159.1:p.Ser20Asn
ENST00000648630.1:c.53G>A	ENSP00000497887.1:p.Ser18Asn
ENST00000648682.1:c.59G>A	ENSP00000498185.1:p.Ser20Asn
ENST00000648882.1:c.59G>A	ENSP00000497603.1:p.Ser20Asn
ENST00000648890.1:c.59G>A	ENSP00000497503.1:p.Ser20Asn
ENST00000648915.2:c.59G>A MANE Select	ENSP00000497160.1:p.Ser20Asn
ENST00000649688.1:c.59G>A	ENSP00000497097.1:p.Ser20Asn
ENST00000649814.1:n.108G>A
ENST00000273783.7:c.59G>A	ENSP00000273783.3:p.Ser20Asn
ENST00000432569.1:c.59G>A	ENSP00000414775.1:p.Ser20Asn
ENST00000432982.5:c.45G>A
ENST00000444495.1:c.59G>A	ENSP00000409142.1:p.Ser20Asn
ENST00000481054.5:n.60G>A
ENST00000491144.5:n.407G>A
NM_003907.2:c.59G>A	NP_003898.2:p.Ser20Asn
XR_924208.1:n.1010G>A
NM_003907.3:c.59G>A MANE Select	NP_003898.2:p.Ser20Asn
XM_011513266.3:c.-843G>A	XP_011511568.1:n.-843G>A
XR_001740352.2:n.422G>A
XR_001740353.2:n.422G>A
XR_924208.2:n.422G>A