Canonical Allele Identifier: CA355382938

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855984G>A (hg19) ; chr3:g.184138196G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138196G>A , CM000665.2:g.184138196G>A	GRCh38
NC_000003.11:g.183855984G>A , CM000665.1:g.183855984G>A	GRCh37
NC_000003.10:g.185338678G>A	NCBI36
NG_015826.1:g.8175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.738G>A
ENST00000468748.7:n.698G>A
ENST00000484154.2:n.1336G>A
ENST00000491008.6:n.1463G>A
ENST00000492226.2:n.712G>A
ENST00000492773.6:c.469G>A
ENST00000647636.1:c.715G>A	ENSP00000497505.1:p.Glu239Lys
ENST00000647909.1:c.739G>A	ENSP00000498164.1:p.Glu247Lys
ENST00000648145.1:c.483G>A
ENST00000648189.1:c.465G>A
ENST00000648256.1:c.664G>A	ENSP00000497356.1:p.Glu222Lys
ENST00000648314.1:c.715G>A	ENSP00000496920.1:p.Glu239Lys
ENST00000648599.1:c.715G>A	ENSP00000497159.1:p.Glu239Lys
ENST00000648630.1:c.709G>A	ENSP00000497887.1:p.Glu237Lys
ENST00000648682.1:c.715G>A	ENSP00000498185.1:p.Glu239Lys
ENST00000648882.1:c.*541G>A	ENSP00000497603.1:n.*541G>A
ENST00000648890.1:c.715G>A	ENSP00000497503.1:p.Glu239Lys
ENST00000648915.2:c.715G>A MANE Select	ENSP00000497160.1:p.Glu239Lys
ENST00000649545.1:c.449G>A
ENST00000649688.1:c.715G>A	ENSP00000497097.1:p.Glu239Lys
ENST00000649814.1:n.764G>A
ENST00000650270.1:c.582G>A
ENST00000273783.7:c.715G>A	ENSP00000273783.3:p.Glu239Lys
ENST00000432982.5:c.245+1521G>A
ENST00000444495.1:c.715G>A	ENSP00000409142.1:p.Glu239Lys
ENST00000468748.5:n.168G>A
ENST00000479833.1:n.31G>A
ENST00000481054.5:n.716G>A
ENST00000491008.5:n.679G>A
ENST00000491144.5:n.1155G>A
NM_003907.2:c.715G>A	NP_003898.2:p.Glu239Lys
XR_924208.1:n.1666G>A
NM_003907.3:c.715G>A MANE Select	NP_003898.2:p.Glu239Lys
XM_011513266.3:c.-187G>A	XP_011511568.1:n.-187G>A
XR_001740352.2:n.1078G>A
XR_001740353.2:n.1078G>A
XR_924208.2:n.1078G>A