Canonical Allele Identifier: CA437146638
Gene: EIF2B5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.183855980A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184138192A>G , CM000665.2:g.184138192A>G GRCh38
NC_000003.11:g.183855980A>G , CM000665.1:g.183855980A>G GRCh37
NC_000003.10:g.185338674A>G NCBI36
NG_015826.1:g.8171A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.734A>G
ENST00000468748.7:n.694A>G
ENST00000484154.2:n.1332A>G
ENST00000491008.6:n.1459A>G
ENST00000492226.2:n.708A>G
ENST00000492773.6:c.465A>G
ENST00000647636.1:c.711A>G ENSP00000497505.1:p.Gly237=
ENST00000647909.1:c.735A>G ENSP00000498164.1:p.Gly245=
ENST00000648145.1:c.479A>G
ENST00000648189.1:c.461A>G
ENST00000648256.1:c.660A>G ENSP00000497356.1:p.Gly220=
ENST00000648314.1:c.711A>G ENSP00000496920.1:p.Gly237=
ENST00000648599.1:c.711A>G ENSP00000497159.1:p.Gly237=
ENST00000648630.1:c.705A>G ENSP00000497887.1:p.Gly235=
ENST00000648682.1:c.711A>G ENSP00000498185.1:p.Gly237=
ENST00000648882.1:c.*537A>G ENSP00000497603.1:n.*537A>G
ENST00000648890.1:c.711A>G ENSP00000497503.1:p.Gly237=
ENST00000648915.2:c.711A>G MANE Select ENSP00000497160.1:p.Gly237=
ENST00000649545.1:c.445A>G
ENST00000649688.1:c.711A>G ENSP00000497097.1:p.Gly237=
ENST00000649814.1:n.760A>G
ENST00000650270.1:c.578A>G
ENST00000273783.7:c.711A>G ENSP00000273783.3:p.Gly237=
ENST00000432982.5:c.245+1517A>G
ENST00000444495.1:c.711A>G ENSP00000409142.1:p.Gly237=
ENST00000468748.5:n.164A>G
ENST00000479833.1:n.27A>G
ENST00000481054.5:n.712A>G
ENST00000491008.5:n.675A>G
ENST00000491144.5:n.1151A>G
NM_003907.2:c.711A>G NP_003898.2:p.Gly237=
XR_924208.1:n.1662A>G
NM_003907.3:c.711A>G MANE Select NP_003898.2:p.Gly237=
XM_011513266.3:c.-191A>G XP_011511568.1:n.-191A>G
XR_001740352.2:n.1074A>G
XR_001740353.2:n.1074A>G
XR_924208.2:n.1074A>G