Canonical Allele Identifier: CA88840058
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs901526973

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184135662A>G , CM000665.2:g.184135662A>G GRCh38
NC_000003.11:g.183853450A>G , CM000665.1:g.183853450A>G GRCh37
NC_000003.10:g.185336144A>G NCBI36
NG_015826.1:g.5641A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432569.2:c.195+82A>G ENSP00000414775.1:n.195+82A>G
ENST00000465218.3:n.218+82A>G
ENST00000468748.7:n.178+82A>G
ENST00000471832.2:c.277A>G ENSP00000497786.1:p.Ser93Gly
ENST00000491008.6:n.60+82A>G
ENST00000492226.2:n.192+82A>G
ENST00000647636.1:c.195+82A>G ENSP00000497505.1:n.195+82A>G
ENST00000647909.1:c.195+82A>G ENSP00000498164.1:n.195+82A>G
ENST00000648256.1:c.144+82A>G ENSP00000497356.1:n.144+82A>G
ENST00000648314.1:c.195+82A>G ENSP00000496920.1:n.195+82A>G
ENST00000648599.1:c.195+82A>G ENSP00000497159.1:n.195+82A>G
ENST00000648630.1:c.189+82A>G ENSP00000497887.1:n.189+82A>G
ENST00000648682.1:c.195+82A>G ENSP00000498185.1:n.195+82A>G
ENST00000648882.1:c.277A>G ENSP00000497603.1:p.Ser93Gly
ENST00000648890.1:c.195+82A>G ENSP00000497503.1:n.195+82A>G
ENST00000648915.2:c.195+82A>G MANE Select ENSP00000497160.1:n.195+82A>G
ENST00000649688.1:c.195+82A>G ENSP00000497097.1:n.195+82A>G
ENST00000649814.1:n.244+82A>G
ENST00000650244.1:c.88-2A>G ENSP00000497227.1:n.88-2A>G
ENST00000650270.1:c.62+82A>G
ENST00000273783.7:c.195+82A>G ENSP00000273783.3:n.195+82A>G
ENST00000432569.1:c.195+82A>G ENSP00000414775.1:n.195+82A>G
ENST00000432982.5:c.181+82A>G
ENST00000444495.1:c.195+82A>G ENSP00000409142.1:n.195+82A>G
ENST00000481054.5:n.196+82A>G
ENST00000491144.5:n.543+82A>G
NM_003907.2:c.195+82A>G NP_003898.2:n.195+82A>G
XR_924208.1:n.1146+82A>G
NM_003907.3:c.195+82A>G MANE Select NP_003898.2:n.195+82A>G
XM_011513266.3:c.-707+82A>G XP_011511568.1:n.-707+82A>G
XR_001740352.2:n.558+82A>G
XR_001740353.2:n.558+82A>G
XR_924208.2:n.558+82A>G