Canonical Allele Identifier: CA437323843

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1385346017
• gnomAD v2: 3-183858292-T-C
• gnomAD v3: 3-184140504-T-C
• gnomAD v4: 3-184140504-T-C
• MyVariant Identifiers: chr3:g.183858292T>C (hg19) ; chr3:g.184140504T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140504T>C , CM000665.2:g.184140504T>C	GRCh38
NC_000003.11:g.183858292T>C , CM000665.1:g.183858292T>C	GRCh37
NC_000003.10:g.185340986T>C	NCBI36
NG_015826.1:g.10483T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.953T>C
ENST00000468748.7:n.1173T>C
ENST00000484154.2:n.1387-1421T>C
ENST00000491008.6:n.1678T>C
ENST00000492226.2:n.1187T>C
ENST00000492773.6:c.684T>C
ENST00000647636.1:c.930T>C	ENSP00000497505.1:p.Cys310=
ENST00000647909.1:c.954T>C	ENSP00000498164.1:p.Cys318=
ENST00000648145.1:c.698T>C
ENST00000648189.1:c.744T>C
ENST00000648256.1:c.902T>C	ENSP00000497356.1:n.902T>C
ENST00000648314.1:c.*49T>C	ENSP00000496920.1:n.*49T>C
ENST00000648599.1:c.*213T>C	ENSP00000497159.1:n.*213T>C
ENST00000648630.1:c.924T>C	ENSP00000497887.1:p.Cys308=
ENST00000648682.1:c.930T>C	ENSP00000498185.1:p.Cys310=
ENST00000648882.1:c.*756T>C	ENSP00000497603.1:n.*756T>C
ENST00000648890.1:c.930T>C	ENSP00000497503.1:p.Cys310=
ENST00000648915.2:c.930T>C MANE Select	ENSP00000497160.1:p.Cys310=
ENST00000649545.1:c.577+347T>C
ENST00000649688.1:c.*213T>C	ENSP00000497097.1:n.*213T>C
ENST00000649814.1:n.979T>C
ENST00000650270.1:c.797T>C
ENST00000273783.7:c.930T>C	ENSP00000273783.3:p.Cys310=
ENST00000432982.5:c.246-1733T>C
ENST00000444495.1:c.930T>C	ENSP00000409142.1:p.Cys310=
ENST00000468748.5:n.643T>C
ENST00000479833.1:n.246T>C
ENST00000481054.5:n.1024T>C
ENST00000491144.5:n.1434T>C
ENST00000493740.1:n.160T>C
NM_003907.2:c.930T>C	NP_003898.2:p.Cys310=
XM_011513265.1:c.180T>C	XP_011511567.1:p.Cys60=
XM_011513266.1:c.93T>C	XP_011511568.1:p.Cys31=
XR_924208.1:n.1881T>C
NM_003907.3:c.930T>C MANE Select	NP_003898.2:p.Cys310=
XM_011513266.3:c.93T>C	XP_011511568.1:p.Cys31=
XR_001740352.2:n.1293T>C
XR_001740353.2:n.1293T>C
XR_924208.2:n.1293T>C