Canonical Allele Identifier: CA355382416

Gene: EIF2B5

Linked Data

• COSMIC: COSM1284708
• MyVariant Identifiers: chr3:g.183855824T>G (hg19) ; chr3:g.184138036T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138036T>G , CM000665.2:g.184138036T>G	GRCh38
NC_000003.11:g.183855824T>G , CM000665.1:g.183855824T>G	GRCh37
NC_000003.10:g.185338518T>G	NCBI36
NG_015826.1:g.8015T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.668T>G
ENST00000468748.7:n.628T>G
ENST00000484154.2:n.1266T>G
ENST00000491008.6:n.1393T>G
ENST00000492226.2:n.642T>G
ENST00000492773.6:c.377T>G
ENST00000647636.1:c.645T>G	ENSP00000497505.1:p.Phe215Leu
ENST00000647909.1:c.669T>G	ENSP00000498164.1:p.Phe223Leu
ENST00000648145.1:c.413T>G
ENST00000648189.1:c.395T>G
ENST00000648256.1:c.594T>G	ENSP00000497356.1:p.Phe198Leu
ENST00000648314.1:c.645T>G	ENSP00000496920.1:p.Phe215Leu
ENST00000648599.1:c.645T>G	ENSP00000497159.1:p.Phe215Leu
ENST00000648630.1:c.639T>G	ENSP00000497887.1:p.Phe213Leu
ENST00000648682.1:c.645T>G	ENSP00000498185.1:p.Phe215Leu
ENST00000648882.1:c.*471T>G	ENSP00000497603.1:n.*471T>G
ENST00000648890.1:c.645T>G	ENSP00000497503.1:p.Phe215Leu
ENST00000648915.2:c.645T>G MANE Select	ENSP00000497160.1:p.Phe215Leu
ENST00000649545.1:c.379T>G
ENST00000649688.1:c.645T>G	ENSP00000497097.1:p.Phe215Leu
ENST00000649814.1:n.694T>G
ENST00000650270.1:c.512T>G
ENST00000273783.7:c.645T>G	ENSP00000273783.3:p.Phe215Leu
ENST00000432982.5:c.245+1361T>G
ENST00000444495.1:c.645T>G	ENSP00000409142.1:p.Phe215Leu
ENST00000468748.5:n.98T>G
ENST00000481054.5:n.646T>G
ENST00000491008.5:n.609T>G
ENST00000491144.5:n.1085T>G
NM_003907.2:c.645T>G	NP_003898.2:p.Phe215Leu
XR_924208.1:n.1596T>G
NM_003907.3:c.645T>G MANE Select	NP_003898.2:p.Phe215Leu
XM_011513266.3:c.-257T>G	XP_011511568.1:n.-257T>G
XR_001740352.2:n.1008T>G
XR_001740353.2:n.1008T>G
XR_924208.2:n.1008T>G