Canonical Allele Identifier: CA355382101

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184137804-A-G
• MyVariant Identifiers: chr3:g.183855592A>G (hg19) ; chr3:g.184137804A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137804A>G , CM000665.2:g.184137804A>G	GRCh38
NC_000003.11:g.183855592A>G , CM000665.1:g.183855592A>G	GRCh37
NC_000003.10:g.185338286A>G	NCBI36
NG_015826.1:g.7783A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.528A>G
ENST00000468748.7:n.488A>G
ENST00000484154.2:n.1126A>G
ENST00000491008.6:n.1253A>G
ENST00000492226.2:n.502A>G
ENST00000492773.6:c.237A>G
ENST00000647636.1:c.505A>G	ENSP00000497505.1:p.Arg169Gly
ENST00000647909.1:c.505A>G	ENSP00000498164.1:p.Ser169Gly
ENST00000648145.1:c.273A>G
ENST00000648189.1:c.255A>G
ENST00000648256.1:c.454A>G	ENSP00000497356.1:p.Arg152Gly
ENST00000648314.1:c.505A>G	ENSP00000496920.1:p.Arg169Gly
ENST00000648599.1:c.505A>G	ENSP00000497159.1:p.Arg169Gly
ENST00000648630.1:c.499A>G	ENSP00000497887.1:p.Arg167Gly
ENST00000648682.1:c.505A>G	ENSP00000498185.1:p.Arg169Gly
ENST00000648882.1:c.*331A>G	ENSP00000497603.1:n.*331A>G
ENST00000648890.1:c.505A>G	ENSP00000497503.1:p.Arg169Gly
ENST00000648915.2:c.505A>G MANE Select	ENSP00000497160.1:p.Arg169Gly
ENST00000649545.1:c.239A>G
ENST00000649688.1:c.505A>G	ENSP00000497097.1:p.Arg169Gly
ENST00000649814.1:n.554A>G
ENST00000650244.1:c.650A>G	ENSP00000497227.1:n.650A>G
ENST00000650270.1:c.372A>G
ENST00000273783.7:c.505A>G	ENSP00000273783.3:p.Arg169Gly
ENST00000432982.5:c.245+1129A>G
ENST00000444495.1:c.505A>G	ENSP00000409142.1:p.Arg169Gly
ENST00000481054.5:n.506A>G
ENST00000491008.5:n.469A>G
ENST00000491144.5:n.853A>G
ENST00000498831.1:n.460A>G
NM_003907.2:c.505A>G	NP_003898.2:p.Arg169Gly
XR_924208.1:n.1456A>G
NM_003907.3:c.505A>G MANE Select	NP_003898.2:p.Arg169Gly
XM_011513266.3:c.-397A>G	XP_011511568.1:n.-397A>G
XR_001740352.2:n.868A>G
XR_001740353.2:n.868A>G
XR_924208.2:n.868A>G