Canonical Allele Identifier: CA355382122

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855688T>A (hg19) ; chr3:g.184137900T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137900T>A , CM000665.2:g.184137900T>A	GRCh38
NC_000003.11:g.183855688T>A , CM000665.1:g.183855688T>A	GRCh37
NC_000003.10:g.185338382T>A	NCBI36
NG_015826.1:g.7879T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.532T>A
ENST00000468748.7:n.492T>A
ENST00000484154.2:n.1130T>A
ENST00000491008.6:n.1257T>A
ENST00000492226.2:n.506T>A
ENST00000492773.6:c.241T>A
ENST00000647636.1:c.509T>A	ENSP00000497505.1:p.Leu170Ter
ENST00000647909.1:c.533T>A	ENSP00000498164.1:p.Leu178Ter
ENST00000648145.1:c.277T>A
ENST00000648189.1:c.259T>A
ENST00000648256.1:c.458T>A	ENSP00000497356.1:p.Leu153Ter
ENST00000648314.1:c.509T>A	ENSP00000496920.1:p.Leu170Ter
ENST00000648599.1:c.509T>A	ENSP00000497159.1:p.Leu170Ter
ENST00000648630.1:c.503T>A	ENSP00000497887.1:p.Leu168Ter
ENST00000648682.1:c.509T>A	ENSP00000498185.1:p.Leu170Ter
ENST00000648882.1:c.*335T>A	ENSP00000497603.1:n.*335T>A
ENST00000648890.1:c.509T>A	ENSP00000497503.1:p.Leu170Ter
ENST00000648915.2:c.509T>A MANE Select	ENSP00000497160.1:p.Leu170Ter
ENST00000649545.1:c.243T>A
ENST00000649688.1:c.509T>A	ENSP00000497097.1:p.Leu170Ter
ENST00000649814.1:n.558T>A
ENST00000650244.1:c.654T>A	ENSP00000497227.1:n.654T>A
ENST00000650270.1:c.376T>A
ENST00000273783.7:c.509T>A	ENSP00000273783.3:p.Leu170Ter
ENST00000432982.5:c.245+1225T>A
ENST00000444495.1:c.509T>A	ENSP00000409142.1:p.Leu170Ter
ENST00000481054.5:n.510T>A
ENST00000491008.5:n.473T>A
ENST00000491144.5:n.949T>A
ENST00000498831.1:n.464T>A
NM_003907.2:c.509T>A	NP_003898.2:p.Leu170Ter
XR_924208.1:n.1460T>A
NM_003907.3:c.509T>A MANE Select	NP_003898.2:p.Leu170Ter
XM_011513266.3:c.-393T>A	XP_011511568.1:n.-393T>A
XR_001740352.2:n.872T>A
XR_001740353.2:n.872T>A
XR_924208.2:n.872T>A