Canonical Allele Identifier: CA355389587

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183860073T>G (hg19) ; chr3:g.184142285T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142285T>G , CM000665.2:g.184142285T>G	GRCh38
NC_000003.11:g.183860073T>G , CM000665.1:g.183860073T>G	GRCh37
NC_000003.10:g.185342767T>G	NCBI36
NG_015826.1:g.12264T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1374T>G
ENST00000468748.7:n.1594T>G
ENST00000484154.2:n.1581T>G
ENST00000491008.6:n.2099T>G
ENST00000492226.2:n.1618T>G
ENST00000492773.6:c.1105T>G
ENST00000647636.1:c.*200T>G	ENSP00000497505.1:n.*200T>G
ENST00000647909.1:c.1375T>G	ENSP00000498164.1:p.Leu459Val
ENST00000648145.1:c.1123T>G
ENST00000648189.1:c.1169T>G
ENST00000648256.1:c.1323T>G	ENSP00000497356.1:n.1323T>G
ENST00000648314.1:c.*470T>G	ENSP00000496920.1:n.*470T>G
ENST00000648599.1:c.*634T>G	ENSP00000497159.1:n.*634T>G
ENST00000648630.1:c.1230T>G	ENSP00000497887.1:n.1230T>G
ENST00000648682.1:c.*191T>G	ENSP00000498185.1:n.*191T>G
ENST00000648882.1:c.*1177T>G	ENSP00000497603.1:n.*1177T>G
ENST00000648890.1:c.1351T>G	ENSP00000497503.1:p.Leu451Val
ENST00000648915.2:c.1351T>G MANE Select	ENSP00000497160.1:p.Leu451Val
ENST00000649545.1:c.724-13T>G
ENST00000649688.1:c.*644T>G	ENSP00000497097.1:n.*644T>G
ENST00000649814.1:n.1400T>G
ENST00000650270.1:c.1218T>G
ENST00000273783.7:c.1351T>G	ENSP00000273783.3:p.Leu451Val
ENST00000432982.5:c.294T>G
ENST00000444495.1:c.1351T>G	ENSP00000409142.1:p.Leu451Val
ENST00000479250.1:n.178T>G
ENST00000481054.5:n.1445T>G
ENST00000491144.5:n.1855T>G
ENST00000492773.5:n.234T>G
NM_003907.2:c.1351T>G	NP_003898.2:p.Leu451Val
XM_011513265.1:c.601T>G	XP_011511567.1:p.Leu201Val
XM_011513266.1:c.514T>G	XP_011511568.1:p.Leu172Val
XR_924208.1:n.2302T>G
NM_003907.3:c.1351T>G MANE Select	NP_003898.2:p.Leu451Val
XM_011513266.3:c.514T>G	XP_011511568.1:p.Leu172Val
XR_001740352.2:n.1714T>G
XR_001740353.2:n.1714T>G
XR_924208.2:n.1714T>G