Canonical Allele Identifier: CA147790

Gene: EIF2B5

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184143455A>G , CM000665.2:g.184143455A>G	GRCh38
NC_000003.11:g.183861243A>G , CM000665.1:g.183861243A>G	GRCh37
NC_000003.10:g.185343937A>G	NCBI36
NG_015826.1:g.13434A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.2081A>G
ENST00000468748.7:n.2301A>G
ENST00000484154.2:n.2288A>G
ENST00000491008.6:n.2523A>G
ENST00000492226.2:n.2325A>G
ENST00000492773.6:c.1513A>G
ENST00000647636.1:c.*608A>G	ENSP00000497505.1:n.*608A>G
ENST00000647909.1:c.1783A>G	ENSP00000498164.1:p.Ile595Val
ENST00000648145.1:c.1531A>G
ENST00000648189.1:c.1593A>G
ENST00000648256.1:c.1731A>G	ENSP00000497356.1:n.1731A>G
ENST00000648314.1:c.*1177A>G	ENSP00000496920.1:n.*1177A>G
ENST00000648599.1:c.*1042A>G	ENSP00000497159.1:n.*1042A>G
ENST00000648630.1:c.1937A>G	ENSP00000497887.1:n.1937A>G
ENST00000648682.1:c.*898A>G	ENSP00000498185.1:n.*898A>G
ENST00000648882.1:c.*1585A>G	ENSP00000497603.1:n.*1585A>G
ENST00000648890.1:c.*182A>G	ENSP00000497503.1:n.*182A>G
ENST00000648915.2:c.1759A>G MANE Select	ENSP00000497160.1:p.Ile587Val
ENST00000649545.1:c.1418A>G
ENST00000649688.1:c.*1351A>G	ENSP00000497097.1:n.*1351A>G
ENST00000649814.1:n.1824A>G
ENST00000650270.1:c.1637A>G
ENST00000273783.7:c.1759A>G	ENSP00000273783.3:p.Ile587Val
ENST00000444495.1:c.1759A>G	ENSP00000409142.1:p.Ile587Val
ENST00000465218.2:n.541A>G
ENST00000481054.5:n.2152A>G
ENST00000484154.1:n.195A>G
ENST00000491144.5:n.2263A>G
NM_003907.2:c.1759A>G	NP_003898.2:p.Ile587Val
XM_011513265.1:c.1009A>G	XP_011511567.1:p.Ile337Val
XM_011513266.1:c.922A>G	XP_011511568.1:p.Ile308Val
XR_924208.1:n.2726A>G
NM_003907.3:c.1759A>G MANE Select	NP_003898.2:p.Ile587Val
XM_011513266.3:c.922A>G	XP_011511568.1:p.Ile308Val
XR_001740352.2:n.2133A>G
XR_001740353.2:n.2149A>G
XR_924208.2:n.2138A>G