Canonical Allele Identifier: CA355382844

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855962T>G (hg19) ; chr3:g.184138174T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138174T>G , CM000665.2:g.184138174T>G	GRCh38
NC_000003.11:g.183855962T>G , CM000665.1:g.183855962T>G	GRCh37
NC_000003.10:g.185338656T>G	NCBI36
NG_015826.1:g.8153T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.716T>G
ENST00000468748.7:n.676T>G
ENST00000484154.2:n.1314T>G
ENST00000491008.6:n.1441T>G
ENST00000492226.2:n.690T>G
ENST00000492773.6:c.447T>G
ENST00000647636.1:c.693T>G	ENSP00000497505.1:p.Phe231Leu
ENST00000647909.1:c.717T>G	ENSP00000498164.1:p.Phe239Leu
ENST00000648145.1:c.461T>G
ENST00000648189.1:c.443T>G
ENST00000648256.1:c.642T>G	ENSP00000497356.1:p.Phe214Leu
ENST00000648314.1:c.693T>G	ENSP00000496920.1:p.Phe231Leu
ENST00000648599.1:c.693T>G	ENSP00000497159.1:p.Phe231Leu
ENST00000648630.1:c.687T>G	ENSP00000497887.1:p.Phe229Leu
ENST00000648682.1:c.693T>G	ENSP00000498185.1:p.Phe231Leu
ENST00000648882.1:c.*519T>G	ENSP00000497603.1:n.*519T>G
ENST00000648890.1:c.693T>G	ENSP00000497503.1:p.Phe231Leu
ENST00000648915.2:c.693T>G MANE Select	ENSP00000497160.1:p.Phe231Leu
ENST00000649545.1:c.427T>G
ENST00000649688.1:c.693T>G	ENSP00000497097.1:p.Phe231Leu
ENST00000649814.1:n.742T>G
ENST00000650270.1:c.560T>G
ENST00000273783.7:c.693T>G	ENSP00000273783.3:p.Phe231Leu
ENST00000432982.5:c.245+1499T>G
ENST00000444495.1:c.693T>G	ENSP00000409142.1:p.Phe231Leu
ENST00000468748.5:n.146T>G
ENST00000479833.1:n.9T>G
ENST00000481054.5:n.694T>G
ENST00000491008.5:n.657T>G
ENST00000491144.5:n.1133T>G
NM_003907.2:c.693T>G	NP_003898.2:p.Phe231Leu
XR_924208.1:n.1644T>G
NM_003907.3:c.693T>G MANE Select	NP_003898.2:p.Phe231Leu
XM_011513266.3:c.-209T>G	XP_011511568.1:n.-209T>G
XR_001740352.2:n.1056T>G
XR_001740353.2:n.1056T>G
XR_924208.2:n.1056T>G