Canonical Allele Identifier: CA355383062

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138224-A-T
• MyVariant Identifiers: chr3:g.183856012A>T (hg19) ; chr3:g.184138224A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138224A>T , CM000665.2:g.184138224A>T	GRCh38
NC_000003.11:g.183856012A>T , CM000665.1:g.183856012A>T	GRCh37
NC_000003.10:g.185338706A>T	NCBI36
NG_015826.1:g.8203A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.766A>T
ENST00000468748.7:n.726A>T
ENST00000484154.2:n.1364A>T
ENST00000491008.6:n.1491A>T
ENST00000492226.2:n.740A>T
ENST00000492773.6:c.497A>T
ENST00000647636.1:c.743A>T	ENSP00000497505.1:p.His248Leu
ENST00000647909.1:c.767A>T	ENSP00000498164.1:p.His256Leu
ENST00000648145.1:c.511A>T
ENST00000648189.1:c.493A>T
ENST00000648256.1:c.692A>T	ENSP00000497356.1:p.His231Leu
ENST00000648314.1:c.743A>T	ENSP00000496920.1:p.His248Leu
ENST00000648599.1:c.743A>T	ENSP00000497159.1:p.His248Leu
ENST00000648630.1:c.737A>T	ENSP00000497887.1:p.His246Leu
ENST00000648682.1:c.743A>T	ENSP00000498185.1:p.His248Leu
ENST00000648882.1:c.*569A>T	ENSP00000497603.1:n.*569A>T
ENST00000648890.1:c.743A>T	ENSP00000497503.1:p.His248Leu
ENST00000648915.2:c.743A>T MANE Select	ENSP00000497160.1:p.His248Leu
ENST00000649545.1:c.477A>T
ENST00000649688.1:c.743A>T	ENSP00000497097.1:p.His248Leu
ENST00000649814.1:n.792A>T
ENST00000650270.1:c.610A>T
ENST00000273783.7:c.743A>T	ENSP00000273783.3:p.His248Leu
ENST00000432982.5:c.245+1549A>T
ENST00000444495.1:c.743A>T	ENSP00000409142.1:p.His248Leu
ENST00000468748.5:n.196A>T
ENST00000479833.1:n.59A>T
ENST00000481054.5:n.744A>T
ENST00000491008.5:n.707A>T
ENST00000491144.5:n.1183A>T
NM_003907.2:c.743A>T	NP_003898.2:p.His248Leu
XR_924208.1:n.1694A>T
NM_003907.3:c.743A>T MANE Select	NP_003898.2:p.His248Leu
XM_011513266.3:c.-159A>T	XP_011511568.1:n.-159A>T
XR_001740352.2:n.1106A>T
XR_001740353.2:n.1106A>T
XR_924208.2:n.1106A>T