Canonical Allele Identifier: CA437323475

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2863938
• ClinVar RCV Id: RCV003702524
• dbSNP Id: rs373147037
• gnomAD v2: 3-183855693-C-A
• gnomAD v3: 3-184137905-C-A
• gnomAD v4: 3-184137905-C-A
• MyVariant Identifiers: chr3:g.183855693C>A (hg19) ; chr3:g.184137905C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137905C>A , CM000665.2:g.184137905C>A	GRCh38
NC_000003.11:g.183855693C>A , CM000665.1:g.183855693C>A	GRCh37
NC_000003.10:g.185338387C>A	NCBI36
NG_015826.1:g.7884C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.537C>A
ENST00000468748.7:n.497C>A
ENST00000484154.2:n.1135C>A
ENST00000491008.6:n.1262C>A
ENST00000492226.2:n.511C>A
ENST00000492773.6:c.246C>A
ENST00000647636.1:c.514C>A	ENSP00000497505.1:p.Arg172=
ENST00000647909.1:c.538C>A	ENSP00000498164.1:p.Arg180=
ENST00000648145.1:c.282C>A
ENST00000648189.1:c.264C>A
ENST00000648256.1:c.463C>A	ENSP00000497356.1:p.Arg155=
ENST00000648314.1:c.514C>A	ENSP00000496920.1:p.Arg172=
ENST00000648599.1:c.514C>A	ENSP00000497159.1:p.Arg172=
ENST00000648630.1:c.508C>A	ENSP00000497887.1:p.Arg170=
ENST00000648682.1:c.514C>A	ENSP00000498185.1:p.Arg172=
ENST00000648882.1:c.*340C>A	ENSP00000497603.1:n.*340C>A
ENST00000648890.1:c.514C>A	ENSP00000497503.1:p.Arg172=
ENST00000648915.2:c.514C>A MANE Select	ENSP00000497160.1:p.Arg172=
ENST00000649545.1:c.248C>A
ENST00000649688.1:c.514C>A	ENSP00000497097.1:p.Arg172=
ENST00000649814.1:n.563C>A
ENST00000650244.1:c.659C>A	ENSP00000497227.1:n.659C>A
ENST00000650270.1:c.381C>A
ENST00000273783.7:c.514C>A	ENSP00000273783.3:p.Arg172=
ENST00000432982.5:c.245+1230C>A
ENST00000444495.1:c.514C>A	ENSP00000409142.1:p.Arg172=
ENST00000481054.5:n.515C>A
ENST00000491008.5:n.478C>A
ENST00000491144.5:n.954C>A
ENST00000498831.1:n.469C>A
NM_003907.2:c.514C>A	NP_003898.2:p.Arg172=
XR_924208.1:n.1465C>A
NM_003907.3:c.514C>A MANE Select	NP_003898.2:p.Arg172=
XM_011513266.3:c.-388C>A	XP_011511568.1:n.-388C>A
XR_001740352.2:n.877C>A
XR_001740353.2:n.877C>A
XR_924208.2:n.877C>A