Canonical Allele Identifier: CA2726433

Gene: EIF2B5

Linked Data

• dbSNP Id: rs746552122
• ExAC: 3:183855810 A / G
• gnomAD v2: 3-183855810-A-G
• gnomAD v4: 3-184138022-A-G
• MyVariant Identifiers: chr3:g.183855810A>G (hg19) ; chr3:g.184138022A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138022A>G , CM000665.2:g.184138022A>G	GRCh38
NC_000003.11:g.183855810A>G , CM000665.1:g.183855810A>G	GRCh37
NC_000003.10:g.185338504A>G	NCBI36
NG_015826.1:g.8001A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.654A>G
ENST00000468748.7:n.614A>G
ENST00000484154.2:n.1252A>G
ENST00000491008.6:n.1379A>G
ENST00000492226.2:n.628A>G
ENST00000492773.6:c.363A>G
ENST00000647636.1:c.631A>G	ENSP00000497505.1:p.Arg211Gly
ENST00000647909.1:c.655A>G	ENSP00000498164.1:p.Arg219Gly
ENST00000648145.1:c.399A>G
ENST00000648189.1:c.381A>G
ENST00000648256.1:c.580A>G	ENSP00000497356.1:p.Arg194Gly
ENST00000648314.1:c.631A>G	ENSP00000496920.1:p.Arg211Gly
ENST00000648599.1:c.631A>G	ENSP00000497159.1:p.Arg211Gly
ENST00000648630.1:c.625A>G	ENSP00000497887.1:p.Arg209Gly
ENST00000648682.1:c.631A>G	ENSP00000498185.1:p.Arg211Gly
ENST00000648882.1:c.*457A>G	ENSP00000497603.1:n.*457A>G
ENST00000648890.1:c.631A>G	ENSP00000497503.1:p.Arg211Gly
ENST00000648915.2:c.631A>G MANE Select	ENSP00000497160.1:p.Arg211Gly
ENST00000649545.1:c.365A>G
ENST00000649688.1:c.631A>G	ENSP00000497097.1:p.Arg211Gly
ENST00000649814.1:n.680A>G
ENST00000650270.1:c.498A>G
ENST00000273783.7:c.631A>G	ENSP00000273783.3:p.Arg211Gly
ENST00000432982.5:c.245+1347A>G
ENST00000444495.1:c.631A>G	ENSP00000409142.1:p.Arg211Gly
ENST00000468748.5:n.84A>G
ENST00000481054.5:n.632A>G
ENST00000491008.5:n.595A>G
ENST00000491144.5:n.1071A>G
ENST00000498831.1:n.586A>G
NM_003907.2:c.631A>G	NP_003898.2:p.Arg211Gly
XR_924208.1:n.1582A>G
NM_003907.3:c.631A>G MANE Select	NP_003898.2:p.Arg211Gly
XM_011513266.3:c.-271A>G	XP_011511568.1:n.-271A>G
XR_001740352.2:n.994A>G
XR_001740353.2:n.994A>G
XR_924208.2:n.994A>G