Canonical Allele Identifier: CA2726558

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2910178
• ClinVar RCV Id: RCV003734587
• dbSNP Id: rs759376966
• ExAC: 3:183858318 A / G
• gnomAD v2: 3-183858318-A-G
• gnomAD v4: 3-184140530-A-G
• MyVariant Identifiers: chr3:g.183858318A>G (hg19) ; chr3:g.184140530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140530A>G , CM000665.2:g.184140530A>G	GRCh38
NC_000003.11:g.183858318A>G , CM000665.1:g.183858318A>G	GRCh37
NC_000003.10:g.185341012A>G	NCBI36
NG_015826.1:g.10509A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.979A>G
ENST00000468748.7:n.1199A>G
ENST00000484154.2:n.1387-1395A>G
ENST00000491008.6:n.1704A>G
ENST00000492226.2:n.1213A>G
ENST00000492773.6:c.710A>G
ENST00000647636.1:c.956A>G	ENSP00000497505.1:p.Tyr319Cys
ENST00000647909.1:c.980A>G	ENSP00000498164.1:p.Tyr327Cys
ENST00000648145.1:c.724A>G
ENST00000648189.1:c.770A>G
ENST00000648256.1:c.928A>G	ENSP00000497356.1:n.928A>G
ENST00000648314.1:c.*75A>G	ENSP00000496920.1:n.*75A>G
ENST00000648599.1:c.*239A>G	ENSP00000497159.1:n.*239A>G
ENST00000648630.1:c.950A>G	ENSP00000497887.1:p.Tyr317Cys
ENST00000648682.1:c.956A>G	ENSP00000498185.1:p.Tyr319Cys
ENST00000648882.1:c.*782A>G	ENSP00000497603.1:n.*782A>G
ENST00000648890.1:c.956A>G	ENSP00000497503.1:p.Tyr319Cys
ENST00000648915.2:c.956A>G MANE Select	ENSP00000497160.1:p.Tyr319Cys
ENST00000649545.1:c.577+373A>G
ENST00000649688.1:c.*239A>G	ENSP00000497097.1:n.*239A>G
ENST00000649814.1:n.1005A>G
ENST00000650270.1:c.823A>G
ENST00000273783.7:c.956A>G	ENSP00000273783.3:p.Tyr319Cys
ENST00000432982.5:c.246-1707A>G
ENST00000444495.1:c.956A>G	ENSP00000409142.1:p.Tyr319Cys
ENST00000468748.5:n.669A>G
ENST00000479833.1:n.272A>G
ENST00000481054.5:n.1050A>G
ENST00000491144.5:n.1460A>G
ENST00000493740.1:n.186A>G
NM_003907.2:c.956A>G	NP_003898.2:p.Tyr319Cys
XM_011513265.1:c.206A>G	XP_011511567.1:p.Tyr69Cys
XM_011513266.1:c.119A>G	XP_011511568.1:p.Tyr40Cys
XR_924208.1:n.1907A>G
NM_003907.3:c.956A>G MANE Select	NP_003898.2:p.Tyr319Cys
XM_011513266.3:c.119A>G	XP_011511568.1:p.Tyr40Cys
XR_001740352.2:n.1319A>G
XR_001740353.2:n.1319A>G
XR_924208.2:n.1319A>G