Canonical Allele Identifier: CA355386647

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859725T>C (hg19) ; chr3:g.184141937T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141937T>C , CM000665.2:g.184141937T>C	GRCh38
NC_000003.11:g.183859725T>C , CM000665.1:g.183859725T>C	GRCh37
NC_000003.10:g.185342419T>C	NCBI36
NG_015826.1:g.11916T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1192T>C
ENST00000468748.7:n.1412T>C
ENST00000484154.2:n.1399T>C
ENST00000491008.6:n.1917T>C
ENST00000492226.2:n.1436T>C
ENST00000492773.6:c.923T>C
ENST00000647636.1:c.*18T>C	ENSP00000497505.1:n.*18T>C
ENST00000647909.1:c.1193T>C	ENSP00000498164.1:p.Val398Ala
ENST00000648145.1:c.941T>C
ENST00000648189.1:c.987T>C
ENST00000648256.1:c.1141T>C	ENSP00000497356.1:n.1141T>C
ENST00000648314.1:c.*288T>C	ENSP00000496920.1:n.*288T>C
ENST00000648599.1:c.*452T>C	ENSP00000497159.1:n.*452T>C
ENST00000648630.1:c.1048T>C	ENSP00000497887.1:p.Cys350Arg
ENST00000648682.1:c.*9T>C	ENSP00000498185.1:n.*9T>C
ENST00000648882.1:c.*995T>C	ENSP00000497603.1:n.*995T>C
ENST00000648890.1:c.1169T>C	ENSP00000497503.1:p.Val390Ala
ENST00000648915.2:c.1169T>C MANE Select	ENSP00000497160.1:p.Val390Ala
ENST00000649545.1:c.590T>C
ENST00000649688.1:c.*462T>C	ENSP00000497097.1:n.*462T>C
ENST00000649814.1:n.1218T>C
ENST00000650270.1:c.1036T>C
ENST00000273783.7:c.1169T>C	ENSP00000273783.3:p.Val390Ala
ENST00000432982.5:c.246-300T>C
ENST00000444495.1:c.1169T>C	ENSP00000409142.1:p.Val390Ala
ENST00000479833.1:n.370T>C
ENST00000481054.5:n.1263T>C
ENST00000491144.5:n.1673T>C
ENST00000492773.5:n.52T>C
NM_003907.2:c.1169T>C	NP_003898.2:p.Val390Ala
XM_011513265.1:c.419T>C	XP_011511567.1:p.Val140Ala
XM_011513266.1:c.332T>C	XP_011511568.1:p.Val111Ala
XR_924208.1:n.2120T>C
NM_003907.3:c.1169T>C MANE Select	NP_003898.2:p.Val390Ala
XM_011513266.3:c.332T>C	XP_011511568.1:p.Val111Ala
XR_001740352.2:n.1532T>C
XR_001740353.2:n.1532T>C
XR_924208.2:n.1532T>C