Canonical Allele Identifier: CA88840226
Gene: EIF2B5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2203468
ClinVar RCV Id: RCV002664327
dbSNP Id: rs113994045
MyVariant Identifiers: chr3:g.183854422T>G (hg19) chr3:g.184136634T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184136634T>G , CM000665.2:g.184136634T>G GRCh38
NC_000003.11:g.183854422T>G , CM000665.1:g.183854422T>G GRCh37
NC_000003.10:g.185337116T>G NCBI36
NG_015826.1:g.6613T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000432569.2:c.218T>G ENSP00000414775.1:p.Val73Gly
ENST00000465218.3:n.241T>G
ENST00000468748.7:n.201T>G
ENST00000471832.2:c.*212T>G ENSP00000497786.1:n.*212T>G
ENST00000491008.6:n.83T>G
ENST00000492226.2:n.215T>G
ENST00000647636.1:c.218T>G ENSP00000497505.1:p.Val73Gly
ENST00000647909.1:c.218T>G ENSP00000498164.1:p.Val73Gly
ENST00000648256.1:c.167T>G ENSP00000497356.1:p.Val56Gly
ENST00000648314.1:c.218T>G ENSP00000496920.1:p.Val73Gly
ENST00000648599.1:c.218T>G ENSP00000497159.1:p.Val73Gly
ENST00000648630.1:c.212T>G ENSP00000497887.1:p.Val71Gly
ENST00000648682.1:c.218T>G ENSP00000498185.1:p.Val73Gly
ENST00000648882.1:c.*44T>G ENSP00000497603.1:n.*44T>G
ENST00000648890.1:c.218T>G ENSP00000497503.1:p.Val73Gly
ENST00000648915.2:c.218T>G MANE Select ENSP00000497160.1:p.Val73Gly
ENST00000649688.1:c.218T>G ENSP00000497097.1:p.Val73Gly
ENST00000649814.1:n.267T>G
ENST00000650244.1:c.363T>G ENSP00000497227.1:n.363T>G
ENST00000650270.1:c.85T>G
ENST00000273783.7:c.218T>G ENSP00000273783.3:p.Val73Gly
ENST00000432569.1:c.218T>G ENSP00000414775.1:p.Val73Gly
ENST00000432982.5:c.204T>G
ENST00000444495.1:c.218T>G ENSP00000409142.1:p.Val73Gly
ENST00000471832.1:n.149T>G
ENST00000481054.5:n.219T>G
ENST00000491144.5:n.566T>G
ENST00000498831.1:n.74T>G
NM_003907.2:c.218T>G NP_003898.2:p.Val73Gly
XR_924208.1:n.1169T>G
NM_003907.3:c.218T>G MANE Select NP_003898.2:p.Val73Gly
XM_011513266.3:c.-684T>G XP_011511568.1:n.-684T>G
XR_001740352.2:n.581T>G
XR_001740353.2:n.581T>G
XR_924208.2:n.581T>G
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