Canonical Allele Identifier: CA2726434

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2585016
• ClinVar RCV Id: RCV003340916
• dbSNP Id: rs768305659
• ExAC: 3:183855812 G / C
• gnomAD v2: 3-183855812-G-C
• gnomAD v4: 3-184138024-G-C
• MyVariant Identifiers: chr3:g.183855812G>C (hg19) ; chr3:g.184138024G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.656G>C
ENST00000468748.7:n.616G>C
ENST00000484154.2:n.1254G>C
ENST00000491008.6:n.1381G>C
ENST00000492226.2:n.630G>C
ENST00000492773.6:c.365G>C
ENST00000647636.1:c.633G>C	ENSP00000497505.1:p.Arg211Ser
ENST00000647909.1:c.657G>C	ENSP00000498164.1:p.Arg219Ser
ENST00000648145.1:c.401G>C
ENST00000648189.1:c.383G>C
ENST00000648256.1:c.582G>C	ENSP00000497356.1:p.Arg194Ser
ENST00000648314.1:c.633G>C	ENSP00000496920.1:p.Arg211Ser
ENST00000648599.1:c.633G>C	ENSP00000497159.1:p.Arg211Ser
ENST00000648630.1:c.627G>C	ENSP00000497887.1:p.Arg209Ser
ENST00000648682.1:c.633G>C	ENSP00000498185.1:p.Arg211Ser
ENST00000648882.1:c.*459G>C	ENSP00000497603.1:n.*459G>C
ENST00000648890.1:c.633G>C	ENSP00000497503.1:p.Arg211Ser
ENST00000648915.2:c.633G>C MANE Select	ENSP00000497160.1:p.Arg211Ser
ENST00000649545.1:c.367G>C
ENST00000649688.1:c.633G>C	ENSP00000497097.1:p.Arg211Ser
ENST00000649814.1:n.682G>C
ENST00000650270.1:c.500G>C
ENST00000273783.7:c.633G>C	ENSP00000273783.3:p.Arg211Ser
ENST00000432982.5:c.245+1349G>C
ENST00000444495.1:c.633G>C	ENSP00000409142.1:p.Arg211Ser
ENST00000468748.5:n.86G>C
ENST00000481054.5:n.634G>C
ENST00000491008.5:n.597G>C
ENST00000491144.5:n.1073G>C
ENST00000498831.1:n.588G>C
NM_003907.2:c.633G>C	NP_003898.2:p.Arg211Ser
XR_924208.1:n.1584G>C
NM_003907.3:c.633G>C MANE Select	NP_003898.2:p.Arg211Ser
XM_011513266.3:c.-269G>C	XP_011511568.1:n.-269G>C
XR_001740352.2:n.996G>C
XR_001740353.2:n.996G>C
XR_924208.2:n.996G>C