Canonical Allele Identifier: CA355382988

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855996G>A (hg19) ; chr3:g.184138208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138208G>A , CM000665.2:g.184138208G>A	GRCh38
NC_000003.11:g.183855996G>A , CM000665.1:g.183855996G>A	GRCh37
NC_000003.10:g.185338690G>A	NCBI36
NG_015826.1:g.8187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.750G>A
ENST00000468748.7:n.710G>A
ENST00000484154.2:n.1348G>A
ENST00000491008.6:n.1475G>A
ENST00000492226.2:n.724G>A
ENST00000492773.6:c.481G>A
ENST00000647636.1:c.727G>A	ENSP00000497505.1:p.Asp243Asn
ENST00000647909.1:c.751G>A	ENSP00000498164.1:p.Asp251Asn
ENST00000648145.1:c.495G>A
ENST00000648189.1:c.477G>A
ENST00000648256.1:c.676G>A	ENSP00000497356.1:p.Asp226Asn
ENST00000648314.1:c.727G>A	ENSP00000496920.1:p.Asp243Asn
ENST00000648599.1:c.727G>A	ENSP00000497159.1:p.Asp243Asn
ENST00000648630.1:c.721G>A	ENSP00000497887.1:p.Asp241Asn
ENST00000648682.1:c.727G>A	ENSP00000498185.1:p.Asp243Asn
ENST00000648882.1:c.*553G>A	ENSP00000497603.1:n.*553G>A
ENST00000648890.1:c.727G>A	ENSP00000497503.1:p.Asp243Asn
ENST00000648915.2:c.727G>A MANE Select	ENSP00000497160.1:p.Asp243Asn
ENST00000649545.1:c.461G>A
ENST00000649688.1:c.727G>A	ENSP00000497097.1:p.Asp243Asn
ENST00000649814.1:n.776G>A
ENST00000650270.1:c.594G>A
ENST00000273783.7:c.727G>A	ENSP00000273783.3:p.Asp243Asn
ENST00000432982.5:c.245+1533G>A
ENST00000444495.1:c.727G>A	ENSP00000409142.1:p.Asp243Asn
ENST00000468748.5:n.180G>A
ENST00000479833.1:n.43G>A
ENST00000481054.5:n.728G>A
ENST00000491008.5:n.691G>A
ENST00000491144.5:n.1167G>A
NM_003907.2:c.727G>A	NP_003898.2:p.Asp243Asn
XR_924208.1:n.1678G>A
NM_003907.3:c.727G>A MANE Select	NP_003898.2:p.Asp243Asn
XM_011513266.3:c.-175G>A	XP_011511568.1:n.-175G>A
XR_001740352.2:n.1090G>A
XR_001740353.2:n.1090G>A
XR_924208.2:n.1090G>A