Canonical Allele Identifier: CA355383021

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183856003T>A (hg19) ; chr3:g.184138215T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138215T>A , CM000665.2:g.184138215T>A	GRCh38
NC_000003.11:g.183856003T>A , CM000665.1:g.183856003T>A	GRCh37
NC_000003.10:g.185338697T>A	NCBI36
NG_015826.1:g.8194T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.757T>A
ENST00000468748.7:n.717T>A
ENST00000484154.2:n.1355T>A
ENST00000491008.6:n.1482T>A
ENST00000492226.2:n.731T>A
ENST00000492773.6:c.488T>A
ENST00000647636.1:c.734T>A	ENSP00000497505.1:p.Leu245Gln
ENST00000647909.1:c.758T>A	ENSP00000498164.1:p.Leu253Gln
ENST00000648145.1:c.502T>A
ENST00000648189.1:c.484T>A
ENST00000648256.1:c.683T>A	ENSP00000497356.1:p.Leu228Gln
ENST00000648314.1:c.734T>A	ENSP00000496920.1:p.Leu245Gln
ENST00000648599.1:c.734T>A	ENSP00000497159.1:p.Leu245Gln
ENST00000648630.1:c.728T>A	ENSP00000497887.1:p.Leu243Gln
ENST00000648682.1:c.734T>A	ENSP00000498185.1:p.Leu245Gln
ENST00000648882.1:c.*560T>A	ENSP00000497603.1:n.*560T>A
ENST00000648890.1:c.734T>A	ENSP00000497503.1:p.Leu245Gln
ENST00000648915.2:c.734T>A MANE Select	ENSP00000497160.1:p.Leu245Gln
ENST00000649545.1:c.468T>A
ENST00000649688.1:c.734T>A	ENSP00000497097.1:p.Leu245Gln
ENST00000649814.1:n.783T>A
ENST00000650270.1:c.601T>A
ENST00000273783.7:c.734T>A	ENSP00000273783.3:p.Leu245Gln
ENST00000432982.5:c.245+1540T>A
ENST00000444495.1:c.734T>A	ENSP00000409142.1:p.Leu245Gln
ENST00000468748.5:n.187T>A
ENST00000479833.1:n.50T>A
ENST00000481054.5:n.735T>A
ENST00000491008.5:n.698T>A
ENST00000491144.5:n.1174T>A
NM_003907.2:c.734T>A	NP_003898.2:p.Leu245Gln
XR_924208.1:n.1685T>A
NM_003907.3:c.734T>A MANE Select	NP_003898.2:p.Leu245Gln
XM_011513266.3:c.-168T>A	XP_011511568.1:n.-168T>A
XR_001740352.2:n.1097T>A
XR_001740353.2:n.1097T>A
XR_924208.2:n.1097T>A