Canonical Allele Identifier: CA355382288

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855765T>A (hg19) ; chr3:g.184137977T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137977T>A , CM000665.2:g.184137977T>A	GRCh38
NC_000003.11:g.183855765T>A , CM000665.1:g.183855765T>A	GRCh37
NC_000003.10:g.185338459T>A	NCBI36
NG_015826.1:g.7956T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.609T>A
ENST00000468748.7:n.569T>A
ENST00000484154.2:n.1207T>A
ENST00000491008.6:n.1334T>A
ENST00000492226.2:n.583T>A
ENST00000492773.6:c.318T>A
ENST00000647636.1:c.586T>A	ENSP00000497505.1:p.Cys196Ser
ENST00000647909.1:c.610T>A	ENSP00000498164.1:p.Cys204Ser
ENST00000648145.1:c.354T>A
ENST00000648189.1:c.336T>A
ENST00000648256.1:c.535T>A	ENSP00000497356.1:p.Cys179Ser
ENST00000648314.1:c.586T>A	ENSP00000496920.1:p.Cys196Ser
ENST00000648599.1:c.586T>A	ENSP00000497159.1:p.Cys196Ser
ENST00000648630.1:c.580T>A	ENSP00000497887.1:p.Cys194Ser
ENST00000648682.1:c.586T>A	ENSP00000498185.1:p.Cys196Ser
ENST00000648882.1:c.*412T>A	ENSP00000497603.1:n.*412T>A
ENST00000648890.1:c.586T>A	ENSP00000497503.1:p.Cys196Ser
ENST00000648915.2:c.586T>A MANE Select	ENSP00000497160.1:p.Cys196Ser
ENST00000649545.1:c.320T>A
ENST00000649688.1:c.586T>A	ENSP00000497097.1:p.Cys196Ser
ENST00000649814.1:n.635T>A
ENST00000650270.1:c.453T>A
ENST00000273783.7:c.586T>A	ENSP00000273783.3:p.Cys196Ser
ENST00000432982.5:c.245+1302T>A
ENST00000444495.1:c.586T>A	ENSP00000409142.1:p.Cys196Ser
ENST00000468748.5:n.39T>A
ENST00000481054.5:n.587T>A
ENST00000491008.5:n.550T>A
ENST00000491144.5:n.1026T>A
ENST00000498831.1:n.541T>A
NM_003907.2:c.586T>A	NP_003898.2:p.Cys196Ser
XR_924208.1:n.1537T>A
NM_003907.3:c.586T>A MANE Select	NP_003898.2:p.Cys196Ser
XM_011513266.3:c.-316T>A	XP_011511568.1:n.-316T>A
XR_001740352.2:n.949T>A
XR_001740353.2:n.949T>A
XR_924208.2:n.949T>A