Canonical Allele Identifier: CA437323612

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2865908
• ClinVar RCV Id: RCV003704929
• gnomAD v4: 3-184138024-G-A
• MyVariant Identifiers: chr3:g.183855812G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138024G>A , CM000665.2:g.184138024G>A	GRCh38
NC_000003.11:g.183855812G>A , CM000665.1:g.183855812G>A	GRCh37
NC_000003.10:g.185338506G>A	NCBI36
NG_015826.1:g.8003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.656G>A
ENST00000468748.7:n.616G>A
ENST00000484154.2:n.1254G>A
ENST00000491008.6:n.1381G>A
ENST00000492226.2:n.630G>A
ENST00000492773.6:c.365G>A
ENST00000647636.1:c.633G>A	ENSP00000497505.1:p.Arg211=
ENST00000647909.1:c.657G>A	ENSP00000498164.1:p.Arg219=
ENST00000648145.1:c.401G>A
ENST00000648189.1:c.383G>A
ENST00000648256.1:c.582G>A	ENSP00000497356.1:p.Arg194=
ENST00000648314.1:c.633G>A	ENSP00000496920.1:p.Arg211=
ENST00000648599.1:c.633G>A	ENSP00000497159.1:p.Arg211=
ENST00000648630.1:c.627G>A	ENSP00000497887.1:p.Arg209=
ENST00000648682.1:c.633G>A	ENSP00000498185.1:p.Arg211=
ENST00000648882.1:c.*459G>A	ENSP00000497603.1:n.*459G>A
ENST00000648890.1:c.633G>A	ENSP00000497503.1:p.Arg211=
ENST00000648915.2:c.633G>A MANE Select	ENSP00000497160.1:p.Arg211=
ENST00000649545.1:c.367G>A
ENST00000649688.1:c.633G>A	ENSP00000497097.1:p.Arg211=
ENST00000649814.1:n.682G>A
ENST00000650270.1:c.500G>A
ENST00000273783.7:c.633G>A	ENSP00000273783.3:p.Arg211=
ENST00000432982.5:c.245+1349G>A
ENST00000444495.1:c.633G>A	ENSP00000409142.1:p.Arg211=
ENST00000468748.5:n.86G>A
ENST00000481054.5:n.634G>A
ENST00000491008.5:n.597G>A
ENST00000491144.5:n.1073G>A
ENST00000498831.1:n.588G>A
NM_003907.2:c.633G>A	NP_003898.2:p.Arg211=
XR_924208.1:n.1584G>A
NM_003907.3:c.633G>A MANE Select	NP_003898.2:p.Arg211=
XM_011513266.3:c.-269G>A	XP_011511568.1:n.-269G>A
XR_001740352.2:n.996G>A
XR_001740353.2:n.996G>A
XR_924208.2:n.996G>A