Canonical Allele Identifier: CA355383455

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184140120-G-C
• MyVariant Identifiers: chr3:g.183857908G>C (hg19) ; chr3:g.184140120G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140120G>C , CM000665.2:g.184140120G>C	GRCh38
NC_000003.11:g.183857908G>C , CM000665.1:g.183857908G>C	GRCh37
NC_000003.10:g.185340602G>C	NCBI36
NG_015826.1:g.10099G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.829G>C
ENST00000468748.7:n.789G>C
ENST00000484154.2:n.1387-1805G>C
ENST00000491008.6:n.1554G>C
ENST00000492226.2:n.803G>C
ENST00000492773.6:c.560G>C
ENST00000647636.1:c.806G>C	ENSP00000497505.1:p.Arg269Pro
ENST00000647909.1:c.830G>C	ENSP00000498164.1:p.Arg277Pro
ENST00000648145.1:c.574G>C
ENST00000648189.1:c.556G>C
ENST00000648256.1:c.778G>C	ENSP00000497356.1:p.Glu260Gln
ENST00000648314.1:c.806G>C	ENSP00000496920.1:p.Arg269Pro
ENST00000648599.1:c.*89G>C	ENSP00000497159.1:n.*89G>C
ENST00000648630.1:c.800G>C	ENSP00000497887.1:p.Arg267Pro
ENST00000648682.1:c.806G>C	ENSP00000498185.1:p.Arg269Pro
ENST00000648882.1:c.*632G>C	ENSP00000497603.1:n.*632G>C
ENST00000648890.1:c.806G>C	ENSP00000497503.1:p.Arg269Pro
ENST00000648915.2:c.806G>C MANE Select	ENSP00000497160.1:p.Arg269Pro
ENST00000649545.1:c.540G>C
ENST00000649688.1:c.*89G>C	ENSP00000497097.1:n.*89G>C
ENST00000649814.1:n.855G>C
ENST00000650270.1:c.673G>C
ENST00000273783.7:c.806G>C	ENSP00000273783.3:p.Arg269Pro
ENST00000432982.5:c.246-2117G>C
ENST00000444495.1:c.806G>C	ENSP00000409142.1:p.Arg269Pro
ENST00000468748.5:n.259G>C
ENST00000479833.1:n.122G>C
ENST00000481054.5:n.900G>C
ENST00000491008.5:n.770G>C
ENST00000491144.5:n.1246G>C
NM_003907.2:c.806G>C	NP_003898.2:p.Arg269Pro
XM_011513265.1:c.56G>C	XP_011511567.1:p.Arg19Pro
XR_924208.1:n.1757G>C
NM_003907.3:c.806G>C MANE Select	NP_003898.2:p.Arg269Pro
XM_011513266.3:c.-96G>C	XP_011511568.1:n.-96G>C
XR_001740352.2:n.1169G>C
XR_001740353.2:n.1169G>C
XR_924208.2:n.1169G>C