Canonical Allele Identifier: CA2726440

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1709121
• ClinVar RCV Id: RCV002288405
• dbSNP Id: rs576734904
• ExAC: 3:183855846 C / T
• gnomAD v2: 3-183855846-C-T
• gnomAD v3: 3-184138058-C-T
• gnomAD v4: 3-184138058-C-T
• COSMIC: COSM5509983
• MyVariant Identifiers: chr3:g.183855846C>T (hg19) ; chr3:g.184138058C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138058C>T , CM000665.2:g.184138058C>T	GRCh38
NC_000003.11:g.183855846C>T , CM000665.1:g.183855846C>T	GRCh37
NC_000003.10:g.185338540C>T	NCBI36
NG_015826.1:g.8037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.690C>T
ENST00000468748.7:n.650C>T
ENST00000484154.2:n.1288C>T
ENST00000491008.6:n.1415C>T
ENST00000492226.2:n.664C>T
ENST00000492773.6:c.399C>T
ENST00000647636.1:c.667C>T	ENSP00000497505.1:p.Arg223Cys
ENST00000647909.1:c.691C>T	ENSP00000498164.1:p.Arg231Cys
ENST00000648145.1:c.435C>T
ENST00000648189.1:c.417C>T
ENST00000648256.1:c.616C>T	ENSP00000497356.1:p.Arg206Cys
ENST00000648314.1:c.667C>T	ENSP00000496920.1:p.Arg223Cys
ENST00000648599.1:c.667C>T	ENSP00000497159.1:p.Arg223Cys
ENST00000648630.1:c.661C>T	ENSP00000497887.1:p.Arg221Cys
ENST00000648682.1:c.667C>T	ENSP00000498185.1:p.Arg223Cys
ENST00000648882.1:c.*493C>T	ENSP00000497603.1:n.*493C>T
ENST00000648890.1:c.667C>T	ENSP00000497503.1:p.Arg223Cys
ENST00000648915.2:c.667C>T MANE Select	ENSP00000497160.1:p.Arg223Cys
ENST00000649545.1:c.401C>T
ENST00000649688.1:c.667C>T	ENSP00000497097.1:p.Arg223Cys
ENST00000649814.1:n.716C>T
ENST00000650270.1:c.534C>T
ENST00000273783.7:c.667C>T	ENSP00000273783.3:p.Arg223Cys
ENST00000432982.5:c.245+1383C>T
ENST00000444495.1:c.667C>T	ENSP00000409142.1:p.Arg223Cys
ENST00000468748.5:n.120C>T
ENST00000481054.5:n.668C>T
ENST00000491008.5:n.631C>T
ENST00000491144.5:n.1107C>T
NM_003907.2:c.667C>T	NP_003898.2:p.Arg223Cys
XR_924208.1:n.1618C>T
NM_003907.3:c.667C>T MANE Select	NP_003898.2:p.Arg223Cys
XM_011513266.3:c.-235C>T	XP_011511568.1:n.-235C>T
XR_001740352.2:n.1030C>T
XR_001740353.2:n.1030C>T
XR_924208.2:n.1030C>T