Canonical Allele Identifier: CA88843584

Gene: EIF2B5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142516G>A , CM000665.2:g.184142516G>A	GRCh38
NC_000003.11:g.183860304G>A , CM000665.1:g.183860304G>A	GRCh37
NC_000003.10:g.185342998G>A	NCBI36
NG_015826.1:g.12495G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1482G>A
ENST00000468748.7:n.1702G>A
ENST00000484154.2:n.1689G>A
ENST00000491008.6:n.2223G>A
ENST00000492226.2:n.1726G>A
ENST00000492773.6:c.1213G>A
ENST00000647636.1:c.*308G>A	ENSP00000497505.1:n.*308G>A
ENST00000647909.1:c.1483G>A	ENSP00000498164.1:p.Glu495Lys
ENST00000648145.1:c.1231G>A
ENST00000648189.1:c.1293G>A
ENST00000648256.1:c.1431G>A	ENSP00000497356.1:n.1431G>A
ENST00000648314.1:c.*578G>A	ENSP00000496920.1:n.*578G>A
ENST00000648599.1:c.*742G>A	ENSP00000497159.1:n.*742G>A
ENST00000648630.1:c.1338G>A	ENSP00000497887.1:n.1338G>A
ENST00000648682.1:c.*299G>A	ENSP00000498185.1:n.*299G>A
ENST00000648882.1:c.*1285G>A	ENSP00000497603.1:n.*1285G>A
ENST00000648890.1:c.1475G>A	ENSP00000497503.1:p.Arg492Lys
ENST00000648915.2:c.1459G>A MANE Select	ENSP00000497160.1:p.Glu487Lys
ENST00000649545.1:c.819G>A
ENST00000649688.1:c.*752G>A	ENSP00000497097.1:n.*752G>A
ENST00000649814.1:n.1524G>A
ENST00000650270.1:c.1326G>A
ENST00000273783.7:c.1459G>A	ENSP00000273783.3:p.Glu487Lys
ENST00000432982.5:c.402G>A
ENST00000444495.1:c.1459G>A	ENSP00000409142.1:p.Glu487Lys
ENST00000479250.1:n.286G>A
ENST00000481054.5:n.1553G>A
ENST00000491144.5:n.1963G>A
ENST00000492773.5:n.358G>A
NM_003907.2:c.1459G>A	NP_003898.2:p.Glu487Lys
XM_011513265.1:c.709G>A	XP_011511567.1:p.Glu237Lys
XM_011513266.1:c.622G>A	XP_011511568.1:p.Glu208Lys
XR_924208.1:n.2426G>A
NM_003907.3:c.1459G>A MANE Select	NP_003898.2:p.Glu487Lys
XM_011513266.3:c.622G>A	XP_011511568.1:p.Glu208Lys
XR_001740352.2:n.1822G>A
XR_001740353.2:n.1838G>A
XR_924208.2:n.1838G>A