Canonical Allele Identifier: CA437323882

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2999491
• ClinVar RCV Id: RCV003852122
• dbSNP Id: rs1475568601
• gnomAD v3: 3-184140522-A-C
• gnomAD v4: 3-184140522-A-C
• MyVariant Identifiers: chr3:g.183858310A>C (hg19) ; chr3:g.184140522A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140522A>C , CM000665.2:g.184140522A>C	GRCh38
NC_000003.11:g.183858310A>C , CM000665.1:g.183858310A>C	GRCh37
NC_000003.10:g.185341004A>C	NCBI36
NG_015826.1:g.10501A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.971A>C
ENST00000468748.7:n.1191A>C
ENST00000484154.2:n.1387-1403A>C
ENST00000491008.6:n.1696A>C
ENST00000492226.2:n.1205A>C
ENST00000492773.6:c.702A>C
ENST00000647636.1:c.948A>C	ENSP00000497505.1:p.Arg316=
ENST00000647909.1:c.972A>C	ENSP00000498164.1:p.Arg324=
ENST00000648145.1:c.716A>C
ENST00000648189.1:c.762A>C
ENST00000648256.1:c.920A>C	ENSP00000497356.1:n.920A>C
ENST00000648314.1:c.*67A>C	ENSP00000496920.1:n.*67A>C
ENST00000648599.1:c.*231A>C	ENSP00000497159.1:n.*231A>C
ENST00000648630.1:c.942A>C	ENSP00000497887.1:p.Arg314=
ENST00000648682.1:c.948A>C	ENSP00000498185.1:p.Arg316=
ENST00000648882.1:c.*774A>C	ENSP00000497603.1:n.*774A>C
ENST00000648890.1:c.948A>C	ENSP00000497503.1:p.Arg316=
ENST00000648915.2:c.948A>C MANE Select	ENSP00000497160.1:p.Arg316=
ENST00000649545.1:c.577+365A>C
ENST00000649688.1:c.*231A>C	ENSP00000497097.1:n.*231A>C
ENST00000649814.1:n.997A>C
ENST00000650270.1:c.815A>C
ENST00000273783.7:c.948A>C	ENSP00000273783.3:p.Arg316=
ENST00000432982.5:c.246-1715A>C
ENST00000444495.1:c.948A>C	ENSP00000409142.1:p.Arg316=
ENST00000468748.5:n.661A>C
ENST00000479833.1:n.264A>C
ENST00000481054.5:n.1042A>C
ENST00000491144.5:n.1452A>C
ENST00000493740.1:n.178A>C
NM_003907.2:c.948A>C	NP_003898.2:p.Arg316=
XM_011513265.1:c.198A>C	XP_011511567.1:p.Arg66=
XM_011513266.1:c.111A>C	XP_011511568.1:p.Arg37=
XR_924208.1:n.1899A>C
NM_003907.3:c.948A>C MANE Select	NP_003898.2:p.Arg316=
XM_011513266.3:c.111A>C	XP_011511568.1:p.Arg37=
XR_001740352.2:n.1311A>C
XR_001740353.2:n.1311A>C
XR_924208.2:n.1311A>C