Canonical Allele Identifier: CA88840405

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1431619
• ClinVar RCV Id: RCV001940837
• dbSNP Id: rs865774540
• gnomAD v3: 3-184137682-A-G
• gnomAD v4: 3-184137682-A-G
• MyVariant Identifiers: chr3:g.183855470A>G (hg19) ; chr3:g.184137682A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137682A>G , CM000665.2:g.184137682A>G	GRCh38
NC_000003.11:g.183855470A>G , CM000665.1:g.183855470A>G	GRCh37
NC_000003.10:g.185338164A>G	NCBI36
NG_015826.1:g.7661A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.406A>G
ENST00000468748.7:n.366A>G
ENST00000484154.2:n.1004A>G
ENST00000491008.6:n.1131A>G
ENST00000492226.2:n.380A>G
ENST00000492773.6:c.115A>G
ENST00000647636.1:c.383A>G	ENSP00000497505.1:p.Tyr128Cys
ENST00000647909.1:c.383A>G	ENSP00000498164.1:p.Tyr128Cys
ENST00000648145.1:c.151A>G
ENST00000648189.1:c.133A>G
ENST00000648256.1:c.332A>G	ENSP00000497356.1:p.Tyr111Cys
ENST00000648314.1:c.383A>G	ENSP00000496920.1:p.Tyr128Cys
ENST00000648599.1:c.383A>G	ENSP00000497159.1:p.Tyr128Cys
ENST00000648630.1:c.377A>G	ENSP00000497887.1:p.Tyr126Cys
ENST00000648682.1:c.383A>G	ENSP00000498185.1:p.Tyr128Cys
ENST00000648882.1:c.*209A>G	ENSP00000497603.1:n.*209A>G
ENST00000648890.1:c.383A>G	ENSP00000497503.1:p.Tyr128Cys
ENST00000648915.2:c.383A>G MANE Select	ENSP00000497160.1:p.Tyr128Cys
ENST00000649545.1:c.117A>G
ENST00000649688.1:c.383A>G	ENSP00000497097.1:p.Tyr128Cys
ENST00000649814.1:n.432A>G
ENST00000650244.1:c.528A>G	ENSP00000497227.1:n.528A>G
ENST00000650270.1:c.250A>G
ENST00000273783.7:c.383A>G	ENSP00000273783.3:p.Tyr128Cys
ENST00000432982.5:c.245+1007A>G
ENST00000444495.1:c.383A>G	ENSP00000409142.1:p.Tyr128Cys
ENST00000481054.5:n.384A>G
ENST00000491008.5:n.347A>G
ENST00000491144.5:n.731A>G
ENST00000498831.1:n.338A>G
NM_003907.2:c.383A>G	NP_003898.2:p.Tyr128Cys
XR_924208.1:n.1334A>G
NM_003907.3:c.383A>G MANE Select	NP_003898.2:p.Tyr128Cys
XM_011513266.3:c.-519A>G	XP_011511568.1:n.-519A>G
XR_001740352.2:n.746A>G
XR_001740353.2:n.746A>G
XR_924208.2:n.746A>G