Canonical Allele Identifier: CA355382865

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138178-G-A
• MyVariant Identifiers: chr3:g.183855966G>A (hg19) ; chr3:g.184138178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138178G>A , CM000665.2:g.184138178G>A	GRCh38
NC_000003.11:g.183855966G>A , CM000665.1:g.183855966G>A	GRCh37
NC_000003.10:g.185338660G>A	NCBI36
NG_015826.1:g.8157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.720G>A
ENST00000468748.7:n.680G>A
ENST00000484154.2:n.1318G>A
ENST00000491008.6:n.1445G>A
ENST00000492226.2:n.694G>A
ENST00000492773.6:c.451G>A
ENST00000647636.1:c.697G>A	ENSP00000497505.1:p.Gly233Ser
ENST00000647909.1:c.721G>A	ENSP00000498164.1:p.Gly241Ser
ENST00000648145.1:c.465G>A
ENST00000648189.1:c.447G>A
ENST00000648256.1:c.646G>A	ENSP00000497356.1:p.Gly216Ser
ENST00000648314.1:c.697G>A	ENSP00000496920.1:p.Gly233Ser
ENST00000648599.1:c.697G>A	ENSP00000497159.1:p.Gly233Ser
ENST00000648630.1:c.691G>A	ENSP00000497887.1:p.Gly231Ser
ENST00000648682.1:c.697G>A	ENSP00000498185.1:p.Gly233Ser
ENST00000648882.1:c.*523G>A	ENSP00000497603.1:n.*523G>A
ENST00000648890.1:c.697G>A	ENSP00000497503.1:p.Gly233Ser
ENST00000648915.2:c.697G>A MANE Select	ENSP00000497160.1:p.Gly233Ser
ENST00000649545.1:c.431G>A
ENST00000649688.1:c.697G>A	ENSP00000497097.1:p.Gly233Ser
ENST00000649814.1:n.746G>A
ENST00000650270.1:c.564G>A
ENST00000273783.7:c.697G>A	ENSP00000273783.3:p.Gly233Ser
ENST00000432982.5:c.245+1503G>A
ENST00000444495.1:c.697G>A	ENSP00000409142.1:p.Gly233Ser
ENST00000468748.5:n.150G>A
ENST00000479833.1:n.13G>A
ENST00000481054.5:n.698G>A
ENST00000491008.5:n.661G>A
ENST00000491144.5:n.1137G>A
NM_003907.2:c.697G>A	NP_003898.2:p.Gly233Ser
XR_924208.1:n.1648G>A
NM_003907.3:c.697G>A MANE Select	NP_003898.2:p.Gly233Ser
XM_011513266.3:c.-205G>A	XP_011511568.1:n.-205G>A
XR_001740352.2:n.1060G>A
XR_001740353.2:n.1060G>A
XR_924208.2:n.1060G>A