Canonical Allele Identifier: CA437145917

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 3002226
• ClinVar RCV Id: RCV003865353
• COSMIC: COSM5398741
• MyVariant Identifiers: chr3:g.183853344C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135556C>T , CM000665.2:g.184135556C>T	GRCh38
NC_000003.11:g.183853344C>T , CM000665.1:g.183853344C>T	GRCh37
NC_000003.10:g.185336038C>T	NCBI36
NG_015826.1:g.5535C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.171C>T	ENSP00000414775.1:p.Phe57=
ENST00000465218.3:n.194C>T
ENST00000468748.7:n.154C>T
ENST00000471832.2:c.171C>T	ENSP00000497786.1:p.Phe57=
ENST00000491008.6:n.36C>T
ENST00000492226.2:n.168C>T
ENST00000647636.1:c.171C>T	ENSP00000497505.1:p.Phe57=
ENST00000647909.1:c.171C>T	ENSP00000498164.1:p.Phe57=
ENST00000648256.1:c.120C>T	ENSP00000497356.1:p.Phe40=
ENST00000648314.1:c.171C>T	ENSP00000496920.1:p.Phe57=
ENST00000648599.1:c.171C>T	ENSP00000497159.1:p.Phe57=
ENST00000648630.1:c.165C>T	ENSP00000497887.1:p.Phe55=
ENST00000648682.1:c.171C>T	ENSP00000498185.1:p.Phe57=
ENST00000648882.1:c.171C>T	ENSP00000497603.1:p.Phe57=
ENST00000648890.1:c.171C>T	ENSP00000497503.1:p.Phe57=
ENST00000648915.2:c.171C>T MANE Select	ENSP00000497160.1:p.Phe57=
ENST00000649688.1:c.171C>T	ENSP00000497097.1:p.Phe57=
ENST00000649814.1:n.220C>T
ENST00000650244.1:c.63C>T	ENSP00000497227.1:p.Phe21=
ENST00000650270.1:c.38C>T
ENST00000273783.7:c.171C>T	ENSP00000273783.3:p.Phe57=
ENST00000432569.1:c.171C>T	ENSP00000414775.1:p.Phe57=
ENST00000432982.5:c.157C>T
ENST00000444495.1:c.171C>T	ENSP00000409142.1:p.Phe57=
ENST00000481054.5:n.172C>T
ENST00000491144.5:n.519C>T
NM_003907.2:c.171C>T	NP_003898.2:p.Phe57=
XR_924208.1:n.1122C>T
NM_003907.3:c.171C>T MANE Select	NP_003898.2:p.Phe57=
XM_011513266.3:c.-731C>T	XP_011511568.1:n.-731C>T
XR_001740352.2:n.534C>T
XR_001740353.2:n.534C>T
XR_924208.2:n.534C>T