Canonical Allele Identifier: CA2726709

Gene: EIF2B5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142541A>G , CM000665.2:g.184142541A>G	GRCh38
NC_000003.11:g.183860329A>G , CM000665.1:g.183860329A>G	GRCh37
NC_000003.10:g.185343023A>G	NCBI36
NG_015826.1:g.12520A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1507A>G
ENST00000468748.7:n.1727A>G
ENST00000484154.2:n.1714A>G
ENST00000491008.6:n.2248A>G
ENST00000492226.2:n.1751A>G
ENST00000492773.6:c.1238A>G
ENST00000647636.1:c.*333A>G	ENSP00000497505.1:n.*333A>G
ENST00000647909.1:c.1508A>G	ENSP00000498164.1:p.Tyr503Cys
ENST00000648145.1:c.1256A>G
ENST00000648189.1:c.1318A>G
ENST00000648256.1:c.1456A>G	ENSP00000497356.1:n.1456A>G
ENST00000648314.1:c.*603A>G	ENSP00000496920.1:n.*603A>G
ENST00000648599.1:c.*767A>G	ENSP00000497159.1:n.*767A>G
ENST00000648630.1:c.1363A>G	ENSP00000497887.1:n.1363A>G
ENST00000648682.1:c.*324A>G	ENSP00000498185.1:n.*324A>G
ENST00000648882.1:c.*1310A>G	ENSP00000497603.1:n.*1310A>G
ENST00000648890.1:c.1500A>G	ENSP00000497503.1:p.Leu500=
ENST00000648915.2:c.1484A>G MANE Select	ENSP00000497160.1:p.Tyr495Cys
ENST00000649545.1:c.844A>G
ENST00000649688.1:c.*777A>G	ENSP00000497097.1:n.*777A>G
ENST00000649814.1:n.1549A>G
ENST00000650270.1:c.1351A>G
ENST00000273783.7:c.1484A>G	ENSP00000273783.3:p.Tyr495Cys
ENST00000432982.5:c.427A>G
ENST00000444495.1:c.1484A>G	ENSP00000409142.1:p.Tyr495Cys
ENST00000479250.1:n.311A>G
ENST00000481054.5:n.1578A>G
ENST00000491144.5:n.1988A>G
ENST00000492773.5:n.383A>G
NM_003907.2:c.1484A>G	NP_003898.2:p.Tyr495Cys
XM_011513265.1:c.734A>G	XP_011511567.1:p.Tyr245Cys
XM_011513266.1:c.647A>G	XP_011511568.1:p.Tyr216Cys
XR_924208.1:n.2451A>G
NM_003907.3:c.1484A>G MANE Select	NP_003898.2:p.Tyr495Cys
XM_011513266.3:c.647A>G	XP_011511568.1:p.Tyr216Cys
XR_001740352.2:n.1847A>G
XR_001740353.2:n.1863A>G
XR_924208.2:n.1863A>G