Canonical Allele Identifier: CA2726467

Gene: EIF2B5

Linked Data

• dbSNP Id: rs750767613
• ExAC: 3:183855994 A / G
• gnomAD v2: 3-183855994-A-G
• gnomAD v4: 3-184138206-A-G
• MyVariant Identifiers: chr3:g.183855994A>G (hg19) ; chr3:g.184138206A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138206A>G , CM000665.2:g.184138206A>G	GRCh38
NC_000003.11:g.183855994A>G , CM000665.1:g.183855994A>G	GRCh37
NC_000003.10:g.185338688A>G	NCBI36
NG_015826.1:g.8185A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.748A>G
ENST00000468748.7:n.708A>G
ENST00000484154.2:n.1346A>G
ENST00000491008.6:n.1473A>G
ENST00000492226.2:n.722A>G
ENST00000492773.6:c.479A>G
ENST00000647636.1:c.725A>G	ENSP00000497505.1:p.Tyr242Cys
ENST00000647909.1:c.749A>G	ENSP00000498164.1:p.Tyr250Cys
ENST00000648145.1:c.493A>G
ENST00000648189.1:c.475A>G
ENST00000648256.1:c.674A>G	ENSP00000497356.1:p.Tyr225Cys
ENST00000648314.1:c.725A>G	ENSP00000496920.1:p.Tyr242Cys
ENST00000648599.1:c.725A>G	ENSP00000497159.1:p.Tyr242Cys
ENST00000648630.1:c.719A>G	ENSP00000497887.1:p.Tyr240Cys
ENST00000648682.1:c.725A>G	ENSP00000498185.1:p.Tyr242Cys
ENST00000648882.1:c.*551A>G	ENSP00000497603.1:n.*551A>G
ENST00000648890.1:c.725A>G	ENSP00000497503.1:p.Tyr242Cys
ENST00000648915.2:c.725A>G MANE Select	ENSP00000497160.1:p.Tyr242Cys
ENST00000649545.1:c.459A>G
ENST00000649688.1:c.725A>G	ENSP00000497097.1:p.Tyr242Cys
ENST00000649814.1:n.774A>G
ENST00000650270.1:c.592A>G
ENST00000273783.7:c.725A>G	ENSP00000273783.3:p.Tyr242Cys
ENST00000432982.5:c.245+1531A>G
ENST00000444495.1:c.725A>G	ENSP00000409142.1:p.Tyr242Cys
ENST00000468748.5:n.178A>G
ENST00000479833.1:n.41A>G
ENST00000481054.5:n.726A>G
ENST00000491008.5:n.689A>G
ENST00000491144.5:n.1165A>G
NM_003907.2:c.725A>G	NP_003898.2:p.Tyr242Cys
XR_924208.1:n.1676A>G
NM_003907.3:c.725A>G MANE Select	NP_003898.2:p.Tyr242Cys
XM_011513266.3:c.-177A>G	XP_011511568.1:n.-177A>G
XR_001740352.2:n.1088A>G
XR_001740353.2:n.1088A>G
XR_924208.2:n.1088A>G