Canonical Allele Identifier: CA16603159

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 376766
• ClinVar RCV Id: RCV000419089 ; RCV001828391
• dbSNP Id: rs1057520047
• gnomAD v2: 3-183855792-G-A
• MyVariant Identifiers: chr3:g.183855792G>A (hg19) ; chr3:g.184138004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138004G>A , CM000665.2:g.184138004G>A	GRCh38
NC_000003.11:g.183855792G>A , CM000665.1:g.183855792G>A	GRCh37
NC_000003.10:g.185338486G>A	NCBI36
NG_015826.1:g.7983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.636G>A
ENST00000468748.7:n.596G>A
ENST00000484154.2:n.1234G>A
ENST00000491008.6:n.1361G>A
ENST00000492226.2:n.610G>A
ENST00000492773.6:c.345G>A
ENST00000647636.1:c.613G>A	ENSP00000497505.1:p.Val205Met
ENST00000647909.1:c.637G>A	ENSP00000498164.1:p.Val213Met
ENST00000648145.1:c.381G>A
ENST00000648189.1:c.363G>A
ENST00000648256.1:c.562G>A	ENSP00000497356.1:p.Val188Met
ENST00000648314.1:c.613G>A	ENSP00000496920.1:p.Val205Met
ENST00000648599.1:c.613G>A	ENSP00000497159.1:p.Val205Met
ENST00000648630.1:c.607G>A	ENSP00000497887.1:p.Val203Met
ENST00000648682.1:c.613G>A	ENSP00000498185.1:p.Val205Met
ENST00000648882.1:c.*439G>A	ENSP00000497603.1:n.*439G>A
ENST00000648890.1:c.613G>A	ENSP00000497503.1:p.Val205Met
ENST00000648915.2:c.613G>A MANE Select	ENSP00000497160.1:p.Val205Met
ENST00000649545.1:c.347G>A
ENST00000649688.1:c.613G>A	ENSP00000497097.1:p.Val205Met
ENST00000649814.1:n.662G>A
ENST00000650270.1:c.480G>A
ENST00000273783.7:c.613G>A	ENSP00000273783.3:p.Val205Met
ENST00000432982.5:c.245+1329G>A
ENST00000444495.1:c.613G>A	ENSP00000409142.1:p.Val205Met
ENST00000468748.5:n.66G>A
ENST00000481054.5:n.614G>A
ENST00000491008.5:n.577G>A
ENST00000491144.5:n.1053G>A
ENST00000498831.1:n.568G>A
NM_003907.2:c.613G>A	NP_003898.2:p.Val205Met
XR_924208.1:n.1564G>A
NM_003907.3:c.613G>A MANE Select	NP_003898.2:p.Val205Met
XM_011513266.3:c.-289G>A	XP_011511568.1:n.-289G>A
XR_001740352.2:n.976G>A
XR_001740353.2:n.976G>A
XR_924208.2:n.976G>A