Canonical Allele Identifier: CA437323918

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858337G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140549G>T , CM000665.2:g.184140549G>T	GRCh38
NC_000003.11:g.183858337G>T , CM000665.1:g.183858337G>T	GRCh37
NC_000003.10:g.185341031G>T	NCBI36
NG_015826.1:g.10528G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.998G>T
ENST00000468748.7:n.1218G>T
ENST00000484154.2:n.1387-1376G>T
ENST00000491008.6:n.1723G>T
ENST00000492226.2:n.1232G>T
ENST00000492773.6:c.729G>T
ENST00000647636.1:c.975G>T	ENSP00000497505.1:p.Ala325=
ENST00000647909.1:c.999G>T	ENSP00000498164.1:p.Ala333=
ENST00000648145.1:c.743G>T
ENST00000648189.1:c.789G>T
ENST00000648256.1:c.947G>T	ENSP00000497356.1:n.947G>T
ENST00000648314.1:c.*94G>T	ENSP00000496920.1:n.*94G>T
ENST00000648599.1:c.*258G>T	ENSP00000497159.1:n.*258G>T
ENST00000648630.1:c.969G>T	ENSP00000497887.1:p.Ala323=
ENST00000648682.1:c.975G>T	ENSP00000498185.1:p.Ala325=
ENST00000648882.1:c.*801G>T	ENSP00000497603.1:n.*801G>T
ENST00000648890.1:c.975G>T	ENSP00000497503.1:p.Ala325=
ENST00000648915.2:c.975G>T MANE Select	ENSP00000497160.1:p.Ala325=
ENST00000649545.1:c.577+392G>T
ENST00000649688.1:c.*258G>T	ENSP00000497097.1:n.*258G>T
ENST00000649814.1:n.1024G>T
ENST00000650270.1:c.842G>T
ENST00000273783.7:c.975G>T	ENSP00000273783.3:p.Ala325=
ENST00000432982.5:c.246-1688G>T
ENST00000444495.1:c.975G>T	ENSP00000409142.1:p.Ala325=
ENST00000479833.1:n.291G>T
ENST00000481054.5:n.1069G>T
ENST00000491144.5:n.1479G>T
ENST00000493740.1:n.205G>T
NM_003907.2:c.975G>T	NP_003898.2:p.Ala325=
XM_011513265.1:c.225G>T	XP_011511567.1:p.Ala75=
XM_011513266.1:c.138G>T	XP_011511568.1:p.Ala46=
XR_924208.1:n.1926G>T
NM_003907.3:c.975G>T MANE Select	NP_003898.2:p.Ala325=
XM_011513266.3:c.138G>T	XP_011511568.1:p.Ala46=
XR_001740352.2:n.1338G>T
XR_001740353.2:n.1338G>T
XR_924208.2:n.1338G>T