Canonical Allele Identifier: CA355381535

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183854449T>G (hg19) ; chr3:g.184136661T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136661T>G , CM000665.2:g.184136661T>G	GRCh38
NC_000003.11:g.183854449T>G , CM000665.1:g.183854449T>G	GRCh37
NC_000003.10:g.185337143T>G	NCBI36
NG_015826.1:g.6640T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.245T>G	ENSP00000414775.1:p.Phe82Cys
ENST00000465218.3:n.268T>G
ENST00000468748.7:n.228T>G
ENST00000471832.2:c.*239T>G	ENSP00000497786.1:n.*239T>G
ENST00000491008.6:n.110T>G
ENST00000492226.2:n.242T>G
ENST00000647636.1:c.245T>G	ENSP00000497505.1:p.Phe82Cys
ENST00000647909.1:c.245T>G	ENSP00000498164.1:p.Phe82Cys
ENST00000648145.1:c.13T>G
ENST00000648256.1:c.194T>G	ENSP00000497356.1:p.Phe65Cys
ENST00000648314.1:c.245T>G	ENSP00000496920.1:p.Phe82Cys
ENST00000648599.1:c.245T>G	ENSP00000497159.1:p.Phe82Cys
ENST00000648630.1:c.239T>G	ENSP00000497887.1:p.Phe80Cys
ENST00000648682.1:c.245T>G	ENSP00000498185.1:p.Phe82Cys
ENST00000648882.1:c.*71T>G	ENSP00000497603.1:n.*71T>G
ENST00000648890.1:c.245T>G	ENSP00000497503.1:p.Phe82Cys
ENST00000648915.2:c.245T>G MANE Select	ENSP00000497160.1:p.Phe82Cys
ENST00000649688.1:c.245T>G	ENSP00000497097.1:p.Phe82Cys
ENST00000649814.1:n.294T>G
ENST00000650244.1:c.390T>G	ENSP00000497227.1:n.390T>G
ENST00000650270.1:c.112T>G
ENST00000273783.7:c.245T>G	ENSP00000273783.3:p.Phe82Cys
ENST00000432569.1:c.245T>G	ENSP00000414775.1:p.Phe82Cys
ENST00000432982.5:c.231T>G
ENST00000444495.1:c.245T>G	ENSP00000409142.1:p.Phe82Cys
ENST00000471832.1:n.176T>G
ENST00000481054.5:n.246T>G
ENST00000491144.5:n.593T>G
ENST00000498831.1:n.101T>G
NM_003907.2:c.245T>G	NP_003898.2:p.Phe82Cys
XR_924208.1:n.1196T>G
NM_003907.3:c.245T>G MANE Select	NP_003898.2:p.Phe82Cys
XM_011513266.3:c.-657T>G	XP_011511568.1:n.-657T>G
XR_001740352.2:n.608T>G
XR_001740353.2:n.608T>G
XR_924208.2:n.608T>G