Canonical Allele Identifier: CA355382950

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138198-G-C
• MyVariant Identifiers: chr3:g.183855986G>C (hg19) ; chr3:g.184138198G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138198G>C , CM000665.2:g.184138198G>C	GRCh38
NC_000003.11:g.183855986G>C , CM000665.1:g.183855986G>C	GRCh37
NC_000003.10:g.185338680G>C	NCBI36
NG_015826.1:g.8177G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.740G>C
ENST00000468748.7:n.700G>C
ENST00000484154.2:n.1338G>C
ENST00000491008.6:n.1465G>C
ENST00000492226.2:n.714G>C
ENST00000492773.6:c.471G>C
ENST00000647636.1:c.717G>C	ENSP00000497505.1:p.Glu239Asp
ENST00000647909.1:c.741G>C	ENSP00000498164.1:p.Glu247Asp
ENST00000648145.1:c.485G>C
ENST00000648189.1:c.467G>C
ENST00000648256.1:c.666G>C	ENSP00000497356.1:p.Glu222Asp
ENST00000648314.1:c.717G>C	ENSP00000496920.1:p.Glu239Asp
ENST00000648599.1:c.717G>C	ENSP00000497159.1:p.Glu239Asp
ENST00000648630.1:c.711G>C	ENSP00000497887.1:p.Glu237Asp
ENST00000648682.1:c.717G>C	ENSP00000498185.1:p.Glu239Asp
ENST00000648882.1:c.*543G>C	ENSP00000497603.1:n.*543G>C
ENST00000648890.1:c.717G>C	ENSP00000497503.1:p.Glu239Asp
ENST00000648915.2:c.717G>C MANE Select	ENSP00000497160.1:p.Glu239Asp
ENST00000649545.1:c.451G>C
ENST00000649688.1:c.717G>C	ENSP00000497097.1:p.Glu239Asp
ENST00000649814.1:n.766G>C
ENST00000650270.1:c.584G>C
ENST00000273783.7:c.717G>C	ENSP00000273783.3:p.Glu239Asp
ENST00000432982.5:c.245+1523G>C
ENST00000444495.1:c.717G>C	ENSP00000409142.1:p.Glu239Asp
ENST00000468748.5:n.170G>C
ENST00000479833.1:n.33G>C
ENST00000481054.5:n.718G>C
ENST00000491008.5:n.681G>C
ENST00000491144.5:n.1157G>C
NM_003907.2:c.717G>C	NP_003898.2:p.Glu239Asp
XR_924208.1:n.1668G>C
NM_003907.3:c.717G>C MANE Select	NP_003898.2:p.Glu239Asp
XM_011513266.3:c.-185G>C	XP_011511568.1:n.-185G>C
XR_001740352.2:n.1080G>C
XR_001740353.2:n.1080G>C
XR_924208.2:n.1080G>C