Canonical Allele Identifier: CA355385813
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs375486298

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184140598A>T , CM000665.2:g.184140598A>T GRCh38
NC_000003.11:g.183858386A>T , CM000665.1:g.183858386A>T GRCh37
NC_000003.10:g.185341080A>T NCBI36
NG_015826.1:g.10577A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.1047A>T
ENST00000468748.7:n.1267A>T
ENST00000484154.2:n.1387-1327A>T
ENST00000491008.6:n.1772A>T
ENST00000492226.2:n.1281A>T
ENST00000492773.6:c.778A>T
ENST00000647636.1:c.1024A>T ENSP00000497505.1:p.Ile342Phe
ENST00000647909.1:c.1048A>T ENSP00000498164.1:p.Ile350Phe
ENST00000648145.1:c.792A>T
ENST00000648189.1:c.838A>T
ENST00000648256.1:c.996A>T ENSP00000497356.1:n.996A>T
ENST00000648314.1:c.*143A>T ENSP00000496920.1:n.*143A>T
ENST00000648599.1:c.*307A>T ENSP00000497159.1:n.*307A>T
ENST00000648630.1:c.1018A>T ENSP00000497887.1:p.Ile340Phe
ENST00000648682.1:c.1024A>T ENSP00000498185.1:p.Ile342Phe
ENST00000648882.1:c.*850A>T ENSP00000497603.1:n.*850A>T
ENST00000648890.1:c.1024A>T ENSP00000497503.1:p.Ile342Phe
ENST00000648915.2:c.1024A>T MANE Select ENSP00000497160.1:p.Ile342Phe
ENST00000649545.1:c.577+441A>T
ENST00000649688.1:c.*307A>T ENSP00000497097.1:n.*307A>T
ENST00000649814.1:n.1073A>T
ENST00000650270.1:c.891A>T
ENST00000273783.7:c.1024A>T ENSP00000273783.3:p.Ile342Phe
ENST00000432982.5:c.246-1639A>T
ENST00000444495.1:c.1024A>T ENSP00000409142.1:p.Ile342Phe
ENST00000479833.1:n.340A>T
ENST00000481054.5:n.1118A>T
ENST00000491144.5:n.1528A>T
ENST00000493740.1:n.254A>T
NM_003907.2:c.1024A>T NP_003898.2:p.Ile342Phe
XM_011513265.1:c.274A>T XP_011511567.1:p.Ile92Phe
XM_011513266.1:c.187A>T XP_011511568.1:p.Ile63Phe
XR_924208.1:n.1975A>T
NM_003907.3:c.1024A>T MANE Select NP_003898.2:p.Ile342Phe
XM_011513266.3:c.187A>T XP_011511568.1:p.Ile63Phe
XR_001740352.2:n.1387A>T
XR_001740353.2:n.1387A>T
XR_924208.2:n.1387A>T