Canonical Allele Identifier: CA2726347

Gene: EIF2B5

Linked Data

• dbSNP Id: rs751354540
• ExAC: 3:183854454 A / G
• gnomAD v2: 3-183854454-A-G
• gnomAD v4: 3-184136666-A-G
• MyVariant Identifiers: chr3:g.183854454A>G (hg19) ; chr3:g.184136666A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136666A>G , CM000665.2:g.184136666A>G	GRCh38
NC_000003.11:g.183854454A>G , CM000665.1:g.183854454A>G	GRCh37
NC_000003.10:g.185337148A>G	NCBI36
NG_015826.1:g.6645A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.250A>G	ENSP00000414775.1:p.Thr84Ala
ENST00000465218.3:n.273A>G
ENST00000468748.7:n.233A>G
ENST00000471832.2:c.*244A>G	ENSP00000497786.1:n.*244A>G
ENST00000491008.6:n.115A>G
ENST00000492226.2:n.247A>G
ENST00000647636.1:c.250A>G	ENSP00000497505.1:p.Thr84Ala
ENST00000647909.1:c.250A>G	ENSP00000498164.1:p.Thr84Ala
ENST00000648145.1:c.18A>G
ENST00000648256.1:c.199A>G	ENSP00000497356.1:p.Thr67Ala
ENST00000648314.1:c.250A>G	ENSP00000496920.1:p.Thr84Ala
ENST00000648599.1:c.250A>G	ENSP00000497159.1:p.Thr84Ala
ENST00000648630.1:c.244A>G	ENSP00000497887.1:p.Thr82Ala
ENST00000648682.1:c.250A>G	ENSP00000498185.1:p.Thr84Ala
ENST00000648882.1:c.*76A>G	ENSP00000497603.1:n.*76A>G
ENST00000648890.1:c.250A>G	ENSP00000497503.1:p.Thr84Ala
ENST00000648915.2:c.250A>G MANE Select	ENSP00000497160.1:p.Thr84Ala
ENST00000649688.1:c.250A>G	ENSP00000497097.1:p.Thr84Ala
ENST00000649814.1:n.299A>G
ENST00000650244.1:c.395A>G	ENSP00000497227.1:n.395A>G
ENST00000650270.1:c.117A>G
ENST00000273783.7:c.250A>G	ENSP00000273783.3:p.Thr84Ala
ENST00000432569.1:c.250A>G	ENSP00000414775.1:p.Thr84Ala
ENST00000432982.5:c.236A>G
ENST00000444495.1:c.250A>G	ENSP00000409142.1:p.Thr84Ala
ENST00000471832.1:n.181A>G
ENST00000481054.5:n.251A>G
ENST00000491144.5:n.598A>G
ENST00000498831.1:n.106A>G
NM_003907.2:c.250A>G	NP_003898.2:p.Thr84Ala
XR_924208.1:n.1201A>G
NM_003907.3:c.250A>G MANE Select	NP_003898.2:p.Thr84Ala
XM_011513266.3:c.-652A>G	XP_011511568.1:n.-652A>G
XR_001740352.2:n.613A>G
XR_001740353.2:n.613A>G
XR_924208.2:n.613A>G