Canonical Allele Identifier: CA355384700

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858230C>A (hg19) ; chr3:g.184140442C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140442C>A , CM000665.2:g.184140442C>A	GRCh38
NC_000003.11:g.183858230C>A , CM000665.1:g.183858230C>A	GRCh37
NC_000003.10:g.185340924C>A	NCBI36
NG_015826.1:g.10421C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.891C>A
ENST00000468748.7:n.1111C>A
ENST00000484154.2:n.1387-1483C>A
ENST00000491008.6:n.1616C>A
ENST00000492226.2:n.1125C>A
ENST00000492773.6:c.622C>A
ENST00000647636.1:c.868C>A	ENSP00000497505.1:p.His290Asn
ENST00000647909.1:c.892C>A	ENSP00000498164.1:p.His298Asn
ENST00000648145.1:c.636C>A
ENST00000648189.1:c.682C>A
ENST00000648256.1:c.840C>A	ENSP00000497356.1:n.840C>A
ENST00000648314.1:c.932C>A	ENSP00000496920.1:p.Ala311Glu
ENST00000648599.1:c.*151C>A	ENSP00000497159.1:n.*151C>A
ENST00000648630.1:c.862C>A	ENSP00000497887.1:p.His288Asn
ENST00000648682.1:c.868C>A	ENSP00000498185.1:p.His290Asn
ENST00000648882.1:c.*694C>A	ENSP00000497603.1:n.*694C>A
ENST00000648890.1:c.868C>A	ENSP00000497503.1:p.His290Asn
ENST00000648915.2:c.868C>A MANE Select	ENSP00000497160.1:p.His290Asn
ENST00000649545.1:c.577+285C>A
ENST00000649688.1:c.*151C>A	ENSP00000497097.1:n.*151C>A
ENST00000649814.1:n.917C>A
ENST00000650270.1:c.735C>A
ENST00000273783.7:c.868C>A	ENSP00000273783.3:p.His290Asn
ENST00000432982.5:c.246-1795C>A
ENST00000444495.1:c.868C>A	ENSP00000409142.1:p.His290Asn
ENST00000468748.5:n.581C>A
ENST00000479833.1:n.184C>A
ENST00000481054.5:n.962C>A
ENST00000491144.5:n.1372C>A
ENST00000493740.1:n.98C>A
NM_003907.2:c.868C>A	NP_003898.2:p.His290Asn
XM_011513265.1:c.118C>A	XP_011511567.1:p.His40Asn
XM_011513266.1:c.31C>A	XP_011511568.1:p.His11Asn
XR_924208.1:n.1819C>A
NM_003907.3:c.868C>A MANE Select	NP_003898.2:p.His290Asn
XM_011513266.3:c.31C>A	XP_011511568.1:p.His11Asn
XR_001740352.2:n.1231C>A
XR_001740353.2:n.1231C>A
XR_924208.2:n.1231C>A