Canonical Allele Identifier: CA88840228
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs113994046
MyVariant Identifiers: chr3:g.183854424G>A (hg19) chr3:g.184136636G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184136636G>A , CM000665.2:g.184136636G>A GRCh38
NC_000003.11:g.183854424G>A , CM000665.1:g.183854424G>A GRCh37
NC_000003.10:g.185337118G>A NCBI36
NG_015826.1:g.6615G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432569.2:c.220G>A ENSP00000414775.1:p.Ala74Thr
ENST00000465218.3:n.243G>A
ENST00000468748.7:n.203G>A
ENST00000471832.2:c.*214G>A ENSP00000497786.1:n.*214G>A
ENST00000491008.6:n.85G>A
ENST00000492226.2:n.217G>A
ENST00000647636.1:c.220G>A ENSP00000497505.1:p.Ala74Thr
ENST00000647909.1:c.220G>A ENSP00000498164.1:p.Ala74Thr
ENST00000648256.1:c.169G>A ENSP00000497356.1:p.Ala57Thr
ENST00000648314.1:c.220G>A ENSP00000496920.1:p.Ala74Thr
ENST00000648599.1:c.220G>A ENSP00000497159.1:p.Ala74Thr
ENST00000648630.1:c.214G>A ENSP00000497887.1:p.Ala72Thr
ENST00000648682.1:c.220G>A ENSP00000498185.1:p.Ala74Thr
ENST00000648882.1:c.*46G>A ENSP00000497603.1:n.*46G>A
ENST00000648890.1:c.220G>A ENSP00000497503.1:p.Ala74Thr
ENST00000648915.2:c.220G>A MANE Select ENSP00000497160.1:p.Ala74Thr
ENST00000649688.1:c.220G>A ENSP00000497097.1:p.Ala74Thr
ENST00000649814.1:n.269G>A
ENST00000650244.1:c.365G>A ENSP00000497227.1:n.365G>A
ENST00000650270.1:c.87G>A
ENST00000273783.7:c.220G>A ENSP00000273783.3:p.Ala74Thr
ENST00000432569.1:c.220G>A ENSP00000414775.1:p.Ala74Thr
ENST00000432982.5:c.206G>A
ENST00000444495.1:c.220G>A ENSP00000409142.1:p.Ala74Thr
ENST00000471832.1:n.151G>A
ENST00000481054.5:n.221G>A
ENST00000491144.5:n.568G>A
ENST00000498831.1:n.76G>A
NM_003907.2:c.220G>A NP_003898.2:p.Ala74Thr
XR_924208.1:n.1171G>A
NM_003907.3:c.220G>A MANE Select NP_003898.2:p.Ala74Thr
XM_011513266.3:c.-682G>A XP_011511568.1:n.-682G>A
XR_001740352.2:n.583G>A
XR_001740353.2:n.583G>A
XR_924208.2:n.583G>A
Search 100 bp 5'
Search 100 bp 3'