Canonical Allele Identifier: CA437146461

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183854450C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136662C>T , CM000665.2:g.184136662C>T	GRCh38
NC_000003.11:g.183854450C>T , CM000665.1:g.183854450C>T	GRCh37
NC_000003.10:g.185337144C>T	NCBI36
NG_015826.1:g.6641C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.246C>T	ENSP00000414775.1:p.Phe82=
ENST00000465218.3:n.269C>T
ENST00000468748.7:n.229C>T
ENST00000471832.2:c.*240C>T	ENSP00000497786.1:n.*240C>T
ENST00000491008.6:n.111C>T
ENST00000492226.2:n.243C>T
ENST00000647636.1:c.246C>T	ENSP00000497505.1:p.Phe82=
ENST00000647909.1:c.246C>T	ENSP00000498164.1:p.Phe82=
ENST00000648145.1:c.14C>T
ENST00000648256.1:c.195C>T	ENSP00000497356.1:p.Phe65=
ENST00000648314.1:c.246C>T	ENSP00000496920.1:p.Phe82=
ENST00000648599.1:c.246C>T	ENSP00000497159.1:p.Phe82=
ENST00000648630.1:c.240C>T	ENSP00000497887.1:p.Phe80=
ENST00000648682.1:c.246C>T	ENSP00000498185.1:p.Phe82=
ENST00000648882.1:c.*72C>T	ENSP00000497603.1:n.*72C>T
ENST00000648890.1:c.246C>T	ENSP00000497503.1:p.Phe82=
ENST00000648915.2:c.246C>T MANE Select	ENSP00000497160.1:p.Phe82=
ENST00000649688.1:c.246C>T	ENSP00000497097.1:p.Phe82=
ENST00000649814.1:n.295C>T
ENST00000650244.1:c.391C>T	ENSP00000497227.1:n.391C>T
ENST00000650270.1:c.113C>T
ENST00000273783.7:c.246C>T	ENSP00000273783.3:p.Phe82=
ENST00000432569.1:c.246C>T	ENSP00000414775.1:p.Phe82=
ENST00000432982.5:c.232C>T
ENST00000444495.1:c.246C>T	ENSP00000409142.1:p.Phe82=
ENST00000471832.1:n.177C>T
ENST00000481054.5:n.247C>T
ENST00000491144.5:n.594C>T
ENST00000498831.1:n.102C>T
NM_003907.2:c.246C>T	NP_003898.2:p.Phe82=
XR_924208.1:n.1197C>T
NM_003907.3:c.246C>T MANE Select	NP_003898.2:p.Phe82=
XM_011513266.3:c.-656C>T	XP_011511568.1:n.-656C>T
XR_001740352.2:n.609C>T
XR_001740353.2:n.609C>T
XR_924208.2:n.609C>T