Canonical Allele Identifier: CA437323627

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855839T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138051T>C , CM000665.2:g.184138051T>C	GRCh38
NC_000003.11:g.183855839T>C , CM000665.1:g.183855839T>C	GRCh37
NC_000003.10:g.185338533T>C	NCBI36
NG_015826.1:g.8030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.683T>C
ENST00000468748.7:n.643T>C
ENST00000484154.2:n.1281T>C
ENST00000491008.6:n.1408T>C
ENST00000492226.2:n.657T>C
ENST00000492773.6:c.392T>C
ENST00000647636.1:c.660T>C	ENSP00000497505.1:p.Gly220=
ENST00000647909.1:c.684T>C	ENSP00000498164.1:p.Gly228=
ENST00000648145.1:c.428T>C
ENST00000648189.1:c.410T>C
ENST00000648256.1:c.609T>C	ENSP00000497356.1:p.Gly203=
ENST00000648314.1:c.660T>C	ENSP00000496920.1:p.Gly220=
ENST00000648599.1:c.660T>C	ENSP00000497159.1:p.Gly220=
ENST00000648630.1:c.654T>C	ENSP00000497887.1:p.Gly218=
ENST00000648682.1:c.660T>C	ENSP00000498185.1:p.Gly220=
ENST00000648882.1:c.*486T>C	ENSP00000497603.1:n.*486T>C
ENST00000648890.1:c.660T>C	ENSP00000497503.1:p.Gly220=
ENST00000648915.2:c.660T>C MANE Select	ENSP00000497160.1:p.Gly220=
ENST00000649545.1:c.394T>C
ENST00000649688.1:c.660T>C	ENSP00000497097.1:p.Gly220=
ENST00000649814.1:n.709T>C
ENST00000650270.1:c.527T>C
ENST00000273783.7:c.660T>C	ENSP00000273783.3:p.Gly220=
ENST00000432982.5:c.245+1376T>C
ENST00000444495.1:c.660T>C	ENSP00000409142.1:p.Gly220=
ENST00000468748.5:n.113T>C
ENST00000481054.5:n.661T>C
ENST00000491008.5:n.624T>C
ENST00000491144.5:n.1100T>C
NM_003907.2:c.660T>C	NP_003898.2:p.Gly220=
XR_924208.1:n.1611T>C
NM_003907.3:c.660T>C MANE Select	NP_003898.2:p.Gly220=
XM_011513266.3:c.-242T>C	XP_011511568.1:n.-242T>C
XR_001740352.2:n.1023T>C
XR_001740353.2:n.1023T>C
XR_924208.2:n.1023T>C