Canonical Allele Identifier: CA355382924

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855979G>C (hg19) ; chr3:g.184138191G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138191G>C , CM000665.2:g.184138191G>C	GRCh38
NC_000003.11:g.183855979G>C , CM000665.1:g.183855979G>C	GRCh37
NC_000003.10:g.185338673G>C	NCBI36
NG_015826.1:g.8170G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.733G>C
ENST00000468748.7:n.693G>C
ENST00000484154.2:n.1331G>C
ENST00000491008.6:n.1458G>C
ENST00000492226.2:n.707G>C
ENST00000492773.6:c.464G>C
ENST00000647636.1:c.710G>C	ENSP00000497505.1:p.Gly237Ala
ENST00000647909.1:c.734G>C	ENSP00000498164.1:p.Gly245Ala
ENST00000648145.1:c.478G>C
ENST00000648189.1:c.460G>C
ENST00000648256.1:c.659G>C	ENSP00000497356.1:p.Gly220Ala
ENST00000648314.1:c.710G>C	ENSP00000496920.1:p.Gly237Ala
ENST00000648599.1:c.710G>C	ENSP00000497159.1:p.Gly237Ala
ENST00000648630.1:c.704G>C	ENSP00000497887.1:p.Gly235Ala
ENST00000648682.1:c.710G>C	ENSP00000498185.1:p.Gly237Ala
ENST00000648882.1:c.*536G>C	ENSP00000497603.1:n.*536G>C
ENST00000648890.1:c.710G>C	ENSP00000497503.1:p.Gly237Ala
ENST00000648915.2:c.710G>C MANE Select	ENSP00000497160.1:p.Gly237Ala
ENST00000649545.1:c.444G>C
ENST00000649688.1:c.710G>C	ENSP00000497097.1:p.Gly237Ala
ENST00000649814.1:n.759G>C
ENST00000650270.1:c.577G>C
ENST00000273783.7:c.710G>C	ENSP00000273783.3:p.Gly237Ala
ENST00000432982.5:c.245+1516G>C
ENST00000444495.1:c.710G>C	ENSP00000409142.1:p.Gly237Ala
ENST00000468748.5:n.163G>C
ENST00000479833.1:n.26G>C
ENST00000481054.5:n.711G>C
ENST00000491008.5:n.674G>C
ENST00000491144.5:n.1150G>C
NM_003907.2:c.710G>C	NP_003898.2:p.Gly237Ala
XR_924208.1:n.1661G>C
NM_003907.3:c.710G>C MANE Select	NP_003898.2:p.Gly237Ala
XM_011513266.3:c.-192G>C	XP_011511568.1:n.-192G>C
XR_001740352.2:n.1073G>C
XR_001740353.2:n.1073G>C
XR_924208.2:n.1073G>C