Canonical Allele Identifier: CA355386774

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184141962-G-T
• MyVariant Identifiers: chr3:g.183859750G>T (hg19) ; chr3:g.184141962G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141962G>T , CM000665.2:g.184141962G>T	GRCh38
NC_000003.11:g.183859750G>T , CM000665.1:g.183859750G>T	GRCh37
NC_000003.10:g.185342444G>T	NCBI36
NG_015826.1:g.11941G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1217G>T
ENST00000468748.7:n.1437G>T
ENST00000484154.2:n.1424G>T
ENST00000491008.6:n.1942G>T
ENST00000492226.2:n.1461G>T
ENST00000492773.6:c.948G>T
ENST00000647636.1:c.*43G>T	ENSP00000497505.1:n.*43G>T
ENST00000647909.1:c.1218G>T	ENSP00000498164.1:p.Gln406His
ENST00000648145.1:c.966G>T
ENST00000648189.1:c.1012G>T
ENST00000648256.1:c.1166G>T	ENSP00000497356.1:n.1166G>T
ENST00000648314.1:c.*313G>T	ENSP00000496920.1:n.*313G>T
ENST00000648599.1:c.*477G>T	ENSP00000497159.1:n.*477G>T
ENST00000648630.1:c.1073G>T	ENSP00000497887.1:p.Arg358Met
ENST00000648682.1:c.*34G>T	ENSP00000498185.1:n.*34G>T
ENST00000648882.1:c.*1020G>T	ENSP00000497603.1:n.*1020G>T
ENST00000648890.1:c.1194G>T	ENSP00000497503.1:p.Gln398His
ENST00000648915.2:c.1194G>T MANE Select	ENSP00000497160.1:p.Gln398His
ENST00000649545.1:c.615G>T
ENST00000649688.1:c.*487G>T	ENSP00000497097.1:n.*487G>T
ENST00000649814.1:n.1243G>T
ENST00000650270.1:c.1061G>T
ENST00000273783.7:c.1194G>T	ENSP00000273783.3:p.Gln398His
ENST00000432982.5:c.246-275G>T
ENST00000444495.1:c.1194G>T	ENSP00000409142.1:p.Gln398His
ENST00000479833.1:n.395G>T
ENST00000481054.5:n.1288G>T
ENST00000491144.5:n.1698G>T
ENST00000492773.5:n.77G>T
NM_003907.2:c.1194G>T	NP_003898.2:p.Gln398His
XM_011513265.1:c.444G>T	XP_011511567.1:p.Gln148His
XM_011513266.1:c.357G>T	XP_011511568.1:p.Gln119His
XR_924208.1:n.2145G>T
NM_003907.3:c.1194G>T MANE Select	NP_003898.2:p.Gln398His
XM_011513266.3:c.357G>T	XP_011511568.1:p.Gln119His
XR_001740352.2:n.1557G>T
XR_001740353.2:n.1557G>T
XR_924208.2:n.1557G>T