Canonical Allele Identifier: CA355381141

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1466897073
• gnomAD v2: 3-183853231-A-G
• gnomAD v4: 3-184135443-A-G
• MyVariant Identifiers: chr3:g.183853231A>G (hg19) ; chr3:g.184135443A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135443A>G , CM000665.2:g.184135443A>G	GRCh38
NC_000003.11:g.183853231A>G , CM000665.1:g.183853231A>G	GRCh37
NC_000003.10:g.185335925A>G	NCBI36
NG_015826.1:g.5422A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.58A>G	ENSP00000414775.1:p.Ser20Gly
ENST00000465218.3:n.81A>G
ENST00000468748.7:n.41A>G
ENST00000471832.2:c.58A>G	ENSP00000497786.1:p.Ser20Gly
ENST00000492226.2:n.55A>G
ENST00000647636.1:c.58A>G	ENSP00000497505.1:p.Ser20Gly
ENST00000647909.1:c.58A>G	ENSP00000498164.1:p.Ser20Gly
ENST00000648256.1:c.7A>G	ENSP00000497356.1:p.Ser3Gly
ENST00000648314.1:c.58A>G	ENSP00000496920.1:p.Ser20Gly
ENST00000648599.1:c.58A>G	ENSP00000497159.1:p.Ser20Gly
ENST00000648630.1:c.52A>G	ENSP00000497887.1:p.Ser18Gly
ENST00000648682.1:c.58A>G	ENSP00000498185.1:p.Ser20Gly
ENST00000648882.1:c.58A>G	ENSP00000497603.1:p.Ser20Gly
ENST00000648890.1:c.58A>G	ENSP00000497503.1:p.Ser20Gly
ENST00000648915.2:c.58A>G MANE Select	ENSP00000497160.1:p.Ser20Gly
ENST00000649688.1:c.58A>G	ENSP00000497097.1:p.Ser20Gly
ENST00000649814.1:n.107A>G
ENST00000273783.7:c.58A>G	ENSP00000273783.3:p.Ser20Gly
ENST00000432569.1:c.58A>G	ENSP00000414775.1:p.Ser20Gly
ENST00000432982.5:c.44A>G
ENST00000444495.1:c.58A>G	ENSP00000409142.1:p.Ser20Gly
ENST00000481054.5:n.59A>G
ENST00000491144.5:n.406A>G
NM_003907.2:c.58A>G	NP_003898.2:p.Ser20Gly
XR_924208.1:n.1009A>G
NM_003907.3:c.58A>G MANE Select	NP_003898.2:p.Ser20Gly
XM_011513266.3:c.-844A>G	XP_011511568.1:n.-844A>G
XR_001740352.2:n.421A>G
XR_001740353.2:n.421A>G
XR_924208.2:n.421A>G