Canonical Allele Identifier: CA355384723

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184140443-A-C
• MyVariant Identifiers: chr3:g.183858231A>C (hg19) ; chr3:g.184140443A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140443A>C , CM000665.2:g.184140443A>C	GRCh38
NC_000003.11:g.183858231A>C , CM000665.1:g.183858231A>C	GRCh37
NC_000003.10:g.185340925A>C	NCBI36
NG_015826.1:g.10422A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.892A>C
ENST00000468748.7:n.1112A>C
ENST00000484154.2:n.1387-1482A>C
ENST00000491008.6:n.1617A>C
ENST00000492226.2:n.1126A>C
ENST00000492773.6:c.623A>C
ENST00000647636.1:c.869A>C	ENSP00000497505.1:p.His290Pro
ENST00000647909.1:c.893A>C	ENSP00000498164.1:p.His298Pro
ENST00000648145.1:c.637A>C
ENST00000648189.1:c.683A>C
ENST00000648256.1:c.841A>C	ENSP00000497356.1:n.841A>C
ENST00000648314.1:c.933A>C	ENSP00000496920.1:p.Ala311=
ENST00000648599.1:c.*152A>C	ENSP00000497159.1:n.*152A>C
ENST00000648630.1:c.863A>C	ENSP00000497887.1:p.His288Pro
ENST00000648682.1:c.869A>C	ENSP00000498185.1:p.His290Pro
ENST00000648882.1:c.*695A>C	ENSP00000497603.1:n.*695A>C
ENST00000648890.1:c.869A>C	ENSP00000497503.1:p.His290Pro
ENST00000648915.2:c.869A>C MANE Select	ENSP00000497160.1:p.His290Pro
ENST00000649545.1:c.577+286A>C
ENST00000649688.1:c.*152A>C	ENSP00000497097.1:n.*152A>C
ENST00000649814.1:n.918A>C
ENST00000650270.1:c.736A>C
ENST00000273783.7:c.869A>C	ENSP00000273783.3:p.His290Pro
ENST00000432982.5:c.246-1794A>C
ENST00000444495.1:c.869A>C	ENSP00000409142.1:p.His290Pro
ENST00000468748.5:n.582A>C
ENST00000479833.1:n.185A>C
ENST00000481054.5:n.963A>C
ENST00000491144.5:n.1373A>C
ENST00000493740.1:n.99A>C
NM_003907.2:c.869A>C	NP_003898.2:p.His290Pro
XM_011513265.1:c.119A>C	XP_011511567.1:p.His40Pro
XM_011513266.1:c.32A>C	XP_011511568.1:p.His11Pro
XR_924208.1:n.1820A>C
NM_003907.3:c.869A>C MANE Select	NP_003898.2:p.His290Pro
XM_011513266.3:c.32A>C	XP_011511568.1:p.His11Pro
XR_001740352.2:n.1232A>C
XR_001740353.2:n.1232A>C
XR_924208.2:n.1232A>C