Canonical Allele Identifier: CA355386833

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859761T>A (hg19) ; chr3:g.184141973T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141973T>A , CM000665.2:g.184141973T>A	GRCh38
NC_000003.11:g.183859761T>A , CM000665.1:g.183859761T>A	GRCh37
NC_000003.10:g.185342455T>A	NCBI36
NG_015826.1:g.11952T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1228T>A
ENST00000468748.7:n.1448T>A
ENST00000484154.2:n.1435T>A
ENST00000491008.6:n.1953T>A
ENST00000492226.2:n.1472T>A
ENST00000492773.6:c.959T>A
ENST00000647636.1:c.*54T>A	ENSP00000497505.1:n.*54T>A
ENST00000647909.1:c.1229T>A	ENSP00000498164.1:p.Val410Glu
ENST00000648145.1:c.977T>A
ENST00000648189.1:c.1023T>A
ENST00000648256.1:c.1177T>A	ENSP00000497356.1:n.1177T>A
ENST00000648314.1:c.*324T>A	ENSP00000496920.1:n.*324T>A
ENST00000648599.1:c.*488T>A	ENSP00000497159.1:n.*488T>A
ENST00000648630.1:c.1084T>A	ENSP00000497887.1:p.Trp362Arg
ENST00000648682.1:c.*45T>A	ENSP00000498185.1:n.*45T>A
ENST00000648882.1:c.*1031T>A	ENSP00000497603.1:n.*1031T>A
ENST00000648890.1:c.1205T>A	ENSP00000497503.1:p.Val402Glu
ENST00000648915.2:c.1205T>A MANE Select	ENSP00000497160.1:p.Val402Glu
ENST00000649545.1:c.626T>A
ENST00000649688.1:c.*498T>A	ENSP00000497097.1:n.*498T>A
ENST00000649814.1:n.1254T>A
ENST00000650270.1:c.1072T>A
ENST00000273783.7:c.1205T>A	ENSP00000273783.3:p.Val402Glu
ENST00000432982.5:c.246-264T>A
ENST00000444495.1:c.1205T>A	ENSP00000409142.1:p.Val402Glu
ENST00000479833.1:n.406T>A
ENST00000481054.5:n.1299T>A
ENST00000491144.5:n.1709T>A
ENST00000492773.5:n.88T>A
NM_003907.2:c.1205T>A	NP_003898.2:p.Val402Glu
XM_011513265.1:c.455T>A	XP_011511567.1:p.Val152Glu
XM_011513266.1:c.368T>A	XP_011511568.1:p.Val123Glu
XR_924208.1:n.2156T>A
NM_003907.3:c.1205T>A MANE Select	NP_003898.2:p.Val402Glu
XM_011513266.3:c.368T>A	XP_011511568.1:p.Val123Glu
XR_001740352.2:n.1568T>A
XR_001740353.2:n.1568T>A
XR_924208.2:n.1568T>A