Canonical Allele Identifier: CA355381385

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2163790
• ClinVar RCV Id: RCV003092505
• gnomAD v4: 3-184135564-C-T
• MyVariant Identifiers: chr3:g.183853352C>T (hg19) ; chr3:g.184135564C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135564C>T , CM000665.2:g.184135564C>T	GRCh38
NC_000003.11:g.183853352C>T , CM000665.1:g.183853352C>T	GRCh37
NC_000003.10:g.185336046C>T	NCBI36
NG_015826.1:g.5543C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.179C>T	ENSP00000414775.1:p.Ser60Phe
ENST00000465218.3:n.202C>T
ENST00000468748.7:n.162C>T
ENST00000471832.2:c.179C>T	ENSP00000497786.1:p.Ser60Phe
ENST00000491008.6:n.44C>T
ENST00000492226.2:n.176C>T
ENST00000647636.1:c.179C>T	ENSP00000497505.1:p.Ser60Phe
ENST00000647909.1:c.179C>T	ENSP00000498164.1:p.Ser60Phe
ENST00000648256.1:c.128C>T	ENSP00000497356.1:p.Ser43Phe
ENST00000648314.1:c.179C>T	ENSP00000496920.1:p.Ser60Phe
ENST00000648599.1:c.179C>T	ENSP00000497159.1:p.Ser60Phe
ENST00000648630.1:c.173C>T	ENSP00000497887.1:p.Ser58Phe
ENST00000648682.1:c.179C>T	ENSP00000498185.1:p.Ser60Phe
ENST00000648882.1:c.179C>T	ENSP00000497603.1:p.Ser60Phe
ENST00000648890.1:c.179C>T	ENSP00000497503.1:p.Ser60Phe
ENST00000648915.2:c.179C>T MANE Select	ENSP00000497160.1:p.Ser60Phe
ENST00000649688.1:c.179C>T	ENSP00000497097.1:p.Ser60Phe
ENST00000649814.1:n.228C>T
ENST00000650244.1:c.71C>T	ENSP00000497227.1:p.Ser24Phe
ENST00000650270.1:c.46C>T
ENST00000273783.7:c.179C>T	ENSP00000273783.3:p.Ser60Phe
ENST00000432569.1:c.179C>T	ENSP00000414775.1:p.Ser60Phe
ENST00000432982.5:c.165C>T
ENST00000444495.1:c.179C>T	ENSP00000409142.1:p.Ser60Phe
ENST00000481054.5:n.180C>T
ENST00000491144.5:n.527C>T
NM_003907.2:c.179C>T	NP_003898.2:p.Ser60Phe
XR_924208.1:n.1130C>T
NM_003907.3:c.179C>T MANE Select	NP_003898.2:p.Ser60Phe
XM_011513266.3:c.-723C>T	XP_011511568.1:n.-723C>T
XR_001740352.2:n.542C>T
XR_001740353.2:n.542C>T
XR_924208.2:n.542C>T