Canonical Allele Identifier: CA355386672

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713652389
• MyVariant Identifiers: chr3:g.183859732C>A (hg19) ; chr3:g.184141944C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141944C>A , CM000665.2:g.184141944C>A	GRCh38
NC_000003.11:g.183859732C>A , CM000665.1:g.183859732C>A	GRCh37
NC_000003.10:g.185342426C>A	NCBI36
NG_015826.1:g.11923C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1199C>A
ENST00000468748.7:n.1419C>A
ENST00000484154.2:n.1406C>A
ENST00000491008.6:n.1924C>A
ENST00000492226.2:n.1443C>A
ENST00000492773.6:c.930C>A
ENST00000647636.1:c.*25C>A	ENSP00000497505.1:n.*25C>A
ENST00000647909.1:c.1200C>A	ENSP00000498164.1:p.Asp400Glu
ENST00000648145.1:c.948C>A
ENST00000648189.1:c.994C>A
ENST00000648256.1:c.1148C>A	ENSP00000497356.1:n.1148C>A
ENST00000648314.1:c.*295C>A	ENSP00000496920.1:n.*295C>A
ENST00000648599.1:c.*459C>A	ENSP00000497159.1:n.*459C>A
ENST00000648630.1:c.1055C>A	ENSP00000497887.1:p.Thr352Asn
ENST00000648682.1:c.*16C>A	ENSP00000498185.1:n.*16C>A
ENST00000648882.1:c.*1002C>A	ENSP00000497603.1:n.*1002C>A
ENST00000648890.1:c.1176C>A	ENSP00000497503.1:p.Asp392Glu
ENST00000648915.2:c.1176C>A MANE Select	ENSP00000497160.1:p.Asp392Glu
ENST00000649545.1:c.597C>A
ENST00000649688.1:c.*469C>A	ENSP00000497097.1:n.*469C>A
ENST00000649814.1:n.1225C>A
ENST00000650270.1:c.1043C>A
ENST00000273783.7:c.1176C>A	ENSP00000273783.3:p.Asp392Glu
ENST00000432982.5:c.246-293C>A
ENST00000444495.1:c.1176C>A	ENSP00000409142.1:p.Asp392Glu
ENST00000479833.1:n.377C>A
ENST00000481054.5:n.1270C>A
ENST00000491144.5:n.1680C>A
ENST00000492773.5:n.59C>A
NM_003907.2:c.1176C>A	NP_003898.2:p.Asp392Glu
XM_011513265.1:c.426C>A	XP_011511567.1:p.Asp142Glu
XM_011513266.1:c.339C>A	XP_011511568.1:p.Asp113Glu
XR_924208.1:n.2127C>A
NM_003907.3:c.1176C>A MANE Select	NP_003898.2:p.Asp392Glu
XM_011513266.3:c.339C>A	XP_011511568.1:p.Asp113Glu
XR_001740352.2:n.1539C>A
XR_001740353.2:n.1539C>A
XR_924208.2:n.1539C>A