Canonical Allele Identifier: CA355381500

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183854434A>G (hg19) ; chr3:g.184136646A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136646A>G , CM000665.2:g.184136646A>G	GRCh38
NC_000003.11:g.183854434A>G , CM000665.1:g.183854434A>G	GRCh37
NC_000003.10:g.185337128A>G	NCBI36
NG_015826.1:g.6625A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.230A>G	ENSP00000414775.1:p.Asp77Gly
ENST00000465218.3:n.253A>G
ENST00000468748.7:n.213A>G
ENST00000471832.2:c.*224A>G	ENSP00000497786.1:n.*224A>G
ENST00000491008.6:n.95A>G
ENST00000492226.2:n.227A>G
ENST00000647636.1:c.230A>G	ENSP00000497505.1:p.Asp77Gly
ENST00000647909.1:c.230A>G	ENSP00000498164.1:p.Asp77Gly
ENST00000648256.1:c.179A>G	ENSP00000497356.1:p.Asp60Gly
ENST00000648314.1:c.230A>G	ENSP00000496920.1:p.Asp77Gly
ENST00000648599.1:c.230A>G	ENSP00000497159.1:p.Asp77Gly
ENST00000648630.1:c.224A>G	ENSP00000497887.1:p.Asp75Gly
ENST00000648682.1:c.230A>G	ENSP00000498185.1:p.Asp77Gly
ENST00000648882.1:c.*56A>G	ENSP00000497603.1:n.*56A>G
ENST00000648890.1:c.230A>G	ENSP00000497503.1:p.Asp77Gly
ENST00000648915.2:c.230A>G MANE Select	ENSP00000497160.1:p.Asp77Gly
ENST00000649688.1:c.230A>G	ENSP00000497097.1:p.Asp77Gly
ENST00000649814.1:n.279A>G
ENST00000650244.1:c.375A>G	ENSP00000497227.1:n.375A>G
ENST00000650270.1:c.97A>G
ENST00000273783.7:c.230A>G	ENSP00000273783.3:p.Asp77Gly
ENST00000432569.1:c.230A>G	ENSP00000414775.1:p.Asp77Gly
ENST00000432982.5:c.216A>G
ENST00000444495.1:c.230A>G	ENSP00000409142.1:p.Asp77Gly
ENST00000471832.1:n.161A>G
ENST00000481054.5:n.231A>G
ENST00000491144.5:n.578A>G
ENST00000498831.1:n.86A>G
NM_003907.2:c.230A>G	NP_003898.2:p.Asp77Gly
XR_924208.1:n.1181A>G
NM_003907.3:c.230A>G MANE Select	NP_003898.2:p.Asp77Gly
XM_011513266.3:c.-672A>G	XP_011511568.1:n.-672A>G
XR_001740352.2:n.593A>G
XR_001740353.2:n.593A>G
XR_924208.2:n.593A>G