Canonical Allele Identifier: CA355385311

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1475157
• ClinVar RCV Id: RCV001973913
• dbSNP Id: rs1713583429
• gnomAD v4: 3-184140527-T-C
• MyVariant Identifiers: chr3:g.183858315T>C (hg19) ; chr3:g.184140527T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140527T>C , CM000665.2:g.184140527T>C	GRCh38
NC_000003.11:g.183858315T>C , CM000665.1:g.183858315T>C	GRCh37
NC_000003.10:g.185341009T>C	NCBI36
NG_015826.1:g.10506T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.976T>C
ENST00000468748.7:n.1196T>C
ENST00000484154.2:n.1387-1398T>C
ENST00000491008.6:n.1701T>C
ENST00000492226.2:n.1210T>C
ENST00000492773.6:c.707T>C
ENST00000647636.1:c.953T>C	ENSP00000497505.1:p.Val318Ala
ENST00000647909.1:c.977T>C	ENSP00000498164.1:p.Val326Ala
ENST00000648145.1:c.721T>C
ENST00000648189.1:c.767T>C
ENST00000648256.1:c.925T>C	ENSP00000497356.1:n.925T>C
ENST00000648314.1:c.*72T>C	ENSP00000496920.1:n.*72T>C
ENST00000648599.1:c.*236T>C	ENSP00000497159.1:n.*236T>C
ENST00000648630.1:c.947T>C	ENSP00000497887.1:p.Val316Ala
ENST00000648682.1:c.953T>C	ENSP00000498185.1:p.Val318Ala
ENST00000648882.1:c.*779T>C	ENSP00000497603.1:n.*779T>C
ENST00000648890.1:c.953T>C	ENSP00000497503.1:p.Val318Ala
ENST00000648915.2:c.953T>C MANE Select	ENSP00000497160.1:p.Val318Ala
ENST00000649545.1:c.577+370T>C
ENST00000649688.1:c.*236T>C	ENSP00000497097.1:n.*236T>C
ENST00000649814.1:n.1002T>C
ENST00000650270.1:c.820T>C
ENST00000273783.7:c.953T>C	ENSP00000273783.3:p.Val318Ala
ENST00000432982.5:c.246-1710T>C
ENST00000444495.1:c.953T>C	ENSP00000409142.1:p.Val318Ala
ENST00000468748.5:n.666T>C
ENST00000479833.1:n.269T>C
ENST00000481054.5:n.1047T>C
ENST00000491144.5:n.1457T>C
ENST00000493740.1:n.183T>C
NM_003907.2:c.953T>C	NP_003898.2:p.Val318Ala
XM_011513265.1:c.203T>C	XP_011511567.1:p.Val68Ala
XM_011513266.1:c.116T>C	XP_011511568.1:p.Val39Ala
XR_924208.1:n.1904T>C
NM_003907.3:c.953T>C MANE Select	NP_003898.2:p.Val318Ala
XM_011513266.3:c.116T>C	XP_011511568.1:p.Val39Ala
XR_001740352.2:n.1316T>C
XR_001740353.2:n.1316T>C
XR_924208.2:n.1316T>C