Canonical Allele Identifier: CA437323916

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713584763
• MyVariant Identifiers: chr3:g.183858334G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140546G>A , CM000665.2:g.184140546G>A	GRCh38
NC_000003.11:g.183858334G>A , CM000665.1:g.183858334G>A	GRCh37
NC_000003.10:g.185341028G>A	NCBI36
NG_015826.1:g.10525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.995G>A
ENST00000468748.7:n.1215G>A
ENST00000484154.2:n.1387-1379G>A
ENST00000491008.6:n.1720G>A
ENST00000492226.2:n.1229G>A
ENST00000492773.6:c.726G>A
ENST00000647636.1:c.972G>A	ENSP00000497505.1:p.Glu324=
ENST00000647909.1:c.996G>A	ENSP00000498164.1:p.Glu332=
ENST00000648145.1:c.740G>A
ENST00000648189.1:c.786G>A
ENST00000648256.1:c.944G>A	ENSP00000497356.1:n.944G>A
ENST00000648314.1:c.*91G>A	ENSP00000496920.1:n.*91G>A
ENST00000648599.1:c.*255G>A	ENSP00000497159.1:n.*255G>A
ENST00000648630.1:c.966G>A	ENSP00000497887.1:p.Glu322=
ENST00000648682.1:c.972G>A	ENSP00000498185.1:p.Glu324=
ENST00000648882.1:c.*798G>A	ENSP00000497603.1:n.*798G>A
ENST00000648890.1:c.972G>A	ENSP00000497503.1:p.Glu324=
ENST00000648915.2:c.972G>A MANE Select	ENSP00000497160.1:p.Glu324=
ENST00000649545.1:c.577+389G>A
ENST00000649688.1:c.*255G>A	ENSP00000497097.1:n.*255G>A
ENST00000649814.1:n.1021G>A
ENST00000650270.1:c.839G>A
ENST00000273783.7:c.972G>A	ENSP00000273783.3:p.Glu324=
ENST00000432982.5:c.246-1691G>A
ENST00000444495.1:c.972G>A	ENSP00000409142.1:p.Glu324=
ENST00000479833.1:n.288G>A
ENST00000481054.5:n.1066G>A
ENST00000491144.5:n.1476G>A
ENST00000493740.1:n.202G>A
NM_003907.2:c.972G>A	NP_003898.2:p.Glu324=
XM_011513265.1:c.222G>A	XP_011511567.1:p.Glu74=
XM_011513266.1:c.135G>A	XP_011511568.1:p.Glu45=
XR_924208.1:n.1923G>A
NM_003907.3:c.972G>A MANE Select	NP_003898.2:p.Glu324=
XM_011513266.3:c.135G>A	XP_011511568.1:p.Glu45=
XR_001740352.2:n.1335G>A
XR_001740353.2:n.1335G>A
XR_924208.2:n.1335G>A