Canonical Allele Identifier: CA355386632

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859720C>G (hg19) ; chr3:g.184141932C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141932C>G , CM000665.2:g.184141932C>G	GRCh38
NC_000003.11:g.183859720C>G , CM000665.1:g.183859720C>G	GRCh37
NC_000003.10:g.185342414C>G	NCBI36
NG_015826.1:g.11911C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1187C>G
ENST00000468748.7:n.1407C>G
ENST00000484154.2:n.1394C>G
ENST00000491008.6:n.1912C>G
ENST00000492226.2:n.1431C>G
ENST00000492773.6:c.918C>G
ENST00000647636.1:c.*13C>G	ENSP00000497505.1:n.*13C>G
ENST00000647909.1:c.1188C>G	ENSP00000498164.1:p.Asn396Lys
ENST00000648145.1:c.936C>G
ENST00000648189.1:c.982C>G
ENST00000648256.1:c.1136C>G	ENSP00000497356.1:n.1136C>G
ENST00000648314.1:c.*283C>G	ENSP00000496920.1:n.*283C>G
ENST00000648599.1:c.*447C>G	ENSP00000497159.1:n.*447C>G
ENST00000648630.1:c.1043C>G	ENSP00000497887.1:p.Thr348Arg
ENST00000648682.1:c.*4C>G	ENSP00000498185.1:n.*4C>G
ENST00000648882.1:c.*990C>G	ENSP00000497603.1:n.*990C>G
ENST00000648890.1:c.1164C>G	ENSP00000497503.1:p.Asn388Lys
ENST00000648915.2:c.1164C>G MANE Select	ENSP00000497160.1:p.Asn388Lys
ENST00000649545.1:c.585C>G
ENST00000649688.1:c.*457C>G	ENSP00000497097.1:n.*457C>G
ENST00000649814.1:n.1213C>G
ENST00000650270.1:c.1031C>G
ENST00000273783.7:c.1164C>G	ENSP00000273783.3:p.Asn388Lys
ENST00000432982.5:c.246-305C>G
ENST00000444495.1:c.1164C>G	ENSP00000409142.1:p.Asn388Lys
ENST00000479833.1:n.365C>G
ENST00000481054.5:n.1258C>G
ENST00000491144.5:n.1668C>G
ENST00000492773.5:n.47C>G
NM_003907.2:c.1164C>G	NP_003898.2:p.Asn388Lys
XM_011513265.1:c.414C>G	XP_011511567.1:p.Asn138Lys
XM_011513266.1:c.327C>G	XP_011511568.1:p.Asn109Lys
XR_924208.1:n.2115C>G
NM_003907.3:c.1164C>G MANE Select	NP_003898.2:p.Asn388Lys
XM_011513266.3:c.327C>G	XP_011511568.1:p.Asn109Lys
XR_001740352.2:n.1527C>G
XR_001740353.2:n.1527C>G
XR_924208.2:n.1527C>G