Canonical Allele Identifier: CA355387145

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859806C>G (hg19) ; chr3:g.184142018C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142018C>G , CM000665.2:g.184142018C>G	GRCh38
NC_000003.11:g.183859806C>G , CM000665.1:g.183859806C>G	GRCh37
NC_000003.10:g.185342500C>G	NCBI36
NG_015826.1:g.11997C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1273C>G
ENST00000468748.7:n.1493C>G
ENST00000484154.2:n.1480C>G
ENST00000491008.6:n.1998C>G
ENST00000492226.2:n.1517C>G
ENST00000492773.6:c.1004C>G
ENST00000647636.1:c.*99C>G	ENSP00000497505.1:n.*99C>G
ENST00000647909.1:c.1274C>G	ENSP00000498164.1:p.Ala425Gly
ENST00000648145.1:c.1022C>G
ENST00000648189.1:c.1068C>G
ENST00000648256.1:c.1222C>G	ENSP00000497356.1:n.1222C>G
ENST00000648314.1:c.*369C>G	ENSP00000496920.1:n.*369C>G
ENST00000648599.1:c.*533C>G	ENSP00000497159.1:n.*533C>G
ENST00000648630.1:c.1129C>G	ENSP00000497887.1:p.Leu377Val
ENST00000648682.1:c.*90C>G	ENSP00000498185.1:n.*90C>G
ENST00000648882.1:c.*1076C>G	ENSP00000497603.1:n.*1076C>G
ENST00000648890.1:c.1250C>G	ENSP00000497503.1:p.Ala417Gly
ENST00000648915.2:c.1250C>G MANE Select	ENSP00000497160.1:p.Ala417Gly
ENST00000649545.1:c.671C>G
ENST00000649688.1:c.*543C>G	ENSP00000497097.1:n.*543C>G
ENST00000649814.1:n.1299C>G
ENST00000650270.1:c.1117C>G
ENST00000273783.7:c.1250C>G	ENSP00000273783.3:p.Ala417Gly
ENST00000432982.5:c.246-219C>G
ENST00000444495.1:c.1250C>G	ENSP00000409142.1:p.Ala417Gly
ENST00000479833.1:n.451C>G
ENST00000481054.5:n.1344C>G
ENST00000491144.5:n.1754C>G
ENST00000492773.5:n.133C>G
NM_003907.2:c.1250C>G	NP_003898.2:p.Ala417Gly
XM_011513265.1:c.500C>G	XP_011511567.1:p.Ala167Gly
XM_011513266.1:c.413C>G	XP_011511568.1:p.Ala138Gly
XR_924208.1:n.2201C>G
NM_003907.3:c.1250C>G MANE Select	NP_003898.2:p.Ala417Gly
XM_011513266.3:c.413C>G	XP_011511568.1:p.Ala138Gly
XR_001740352.2:n.1613C>G
XR_001740353.2:n.1613C>G
XR_924208.2:n.1613C>G