Canonical Allele Identifier: CA355382233

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855737G>T (hg19) ; chr3:g.184137949G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137949G>T , CM000665.2:g.184137949G>T	GRCh38
NC_000003.11:g.183855737G>T , CM000665.1:g.183855737G>T	GRCh37
NC_000003.10:g.185338431G>T	NCBI36
NG_015826.1:g.7928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.581G>T
ENST00000468748.7:n.541G>T
ENST00000484154.2:n.1179G>T
ENST00000491008.6:n.1306G>T
ENST00000492226.2:n.555G>T
ENST00000492773.6:c.290G>T
ENST00000647636.1:c.558G>T	ENSP00000497505.1:p.Lys186Asn
ENST00000647909.1:c.582G>T	ENSP00000498164.1:p.Lys194Asn
ENST00000648145.1:c.326G>T
ENST00000648189.1:c.308G>T
ENST00000648256.1:c.507G>T	ENSP00000497356.1:p.Lys169Asn
ENST00000648314.1:c.558G>T	ENSP00000496920.1:p.Lys186Asn
ENST00000648599.1:c.558G>T	ENSP00000497159.1:p.Lys186Asn
ENST00000648630.1:c.552G>T	ENSP00000497887.1:p.Lys184Asn
ENST00000648682.1:c.558G>T	ENSP00000498185.1:p.Lys186Asn
ENST00000648882.1:c.*384G>T	ENSP00000497603.1:n.*384G>T
ENST00000648890.1:c.558G>T	ENSP00000497503.1:p.Lys186Asn
ENST00000648915.2:c.558G>T MANE Select	ENSP00000497160.1:p.Lys186Asn
ENST00000649545.1:c.292G>T
ENST00000649688.1:c.558G>T	ENSP00000497097.1:p.Lys186Asn
ENST00000649814.1:n.607G>T
ENST00000650270.1:c.425G>T
ENST00000273783.7:c.558G>T	ENSP00000273783.3:p.Lys186Asn
ENST00000432982.5:c.245+1274G>T
ENST00000444495.1:c.558G>T	ENSP00000409142.1:p.Lys186Asn
ENST00000468748.5:n.11G>T
ENST00000481054.5:n.559G>T
ENST00000491008.5:n.522G>T
ENST00000491144.5:n.998G>T
ENST00000498831.1:n.513G>T
NM_003907.2:c.558G>T	NP_003898.2:p.Lys186Asn
XR_924208.1:n.1509G>T
NM_003907.3:c.558G>T MANE Select	NP_003898.2:p.Lys186Asn
XM_011513266.3:c.-344G>T	XP_011511568.1:n.-344G>T
XR_001740352.2:n.921G>T
XR_001740353.2:n.921G>T
XR_924208.2:n.921G>T