Canonical Allele Identifier: CA355385624

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858359C>A (hg19) ; chr3:g.184140571C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140571C>A , CM000665.2:g.184140571C>A	GRCh38
NC_000003.11:g.183858359C>A , CM000665.1:g.183858359C>A	GRCh37
NC_000003.10:g.185341053C>A	NCBI36
NG_015826.1:g.10550C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1020C>A
ENST00000468748.7:n.1240C>A
ENST00000484154.2:n.1387-1354C>A
ENST00000491008.6:n.1745C>A
ENST00000492226.2:n.1254C>A
ENST00000492773.6:c.751C>A
ENST00000647636.1:c.997C>A	ENSP00000497505.1:p.Gln333Lys
ENST00000647909.1:c.1021C>A	ENSP00000498164.1:p.Gln341Lys
ENST00000648145.1:c.765C>A
ENST00000648189.1:c.811C>A
ENST00000648256.1:c.969C>A	ENSP00000497356.1:n.969C>A
ENST00000648314.1:c.*116C>A	ENSP00000496920.1:n.*116C>A
ENST00000648599.1:c.*280C>A	ENSP00000497159.1:n.*280C>A
ENST00000648630.1:c.991C>A	ENSP00000497887.1:p.Gln331Lys
ENST00000648682.1:c.997C>A	ENSP00000498185.1:p.Gln333Lys
ENST00000648882.1:c.*823C>A	ENSP00000497603.1:n.*823C>A
ENST00000648890.1:c.997C>A	ENSP00000497503.1:p.Gln333Lys
ENST00000648915.2:c.997C>A MANE Select	ENSP00000497160.1:p.Gln333Lys
ENST00000649545.1:c.577+414C>A
ENST00000649688.1:c.*280C>A	ENSP00000497097.1:n.*280C>A
ENST00000649814.1:n.1046C>A
ENST00000650270.1:c.864C>A
ENST00000273783.7:c.997C>A	ENSP00000273783.3:p.Gln333Lys
ENST00000432982.5:c.246-1666C>A
ENST00000444495.1:c.997C>A	ENSP00000409142.1:p.Gln333Lys
ENST00000479833.1:n.313C>A
ENST00000481054.5:n.1091C>A
ENST00000491144.5:n.1501C>A
ENST00000493740.1:n.227C>A
NM_003907.2:c.997C>A	NP_003898.2:p.Gln333Lys
XM_011513265.1:c.247C>A	XP_011511567.1:p.Gln83Lys
XM_011513266.1:c.160C>A	XP_011511568.1:p.Gln54Lys
XR_924208.1:n.1948C>A
NM_003907.3:c.997C>A MANE Select	NP_003898.2:p.Gln333Lys
XM_011513266.3:c.160C>A	XP_011511568.1:p.Gln54Lys
XR_001740352.2:n.1360C>A
XR_001740353.2:n.1360C>A
XR_924208.2:n.1360C>A