Canonical Allele Identifier: CA2726422

Gene: EIF2B5

Linked Data

• dbSNP Id: rs773141690
• ExAC: 3:183855755 C / A
• gnomAD v2: 3-183855755-C-A
• gnomAD v4: 3-184137967-C-A
• MyVariant Identifiers: chr3:g.183855755C>A (hg19) ; chr3:g.184137967C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137967C>A , CM000665.2:g.184137967C>A	GRCh38
NC_000003.11:g.183855755C>A , CM000665.1:g.183855755C>A	GRCh37
NC_000003.10:g.185338449C>A	NCBI36
NG_015826.1:g.7946C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.599C>A
ENST00000468748.7:n.559C>A
ENST00000484154.2:n.1197C>A
ENST00000491008.6:n.1324C>A
ENST00000492226.2:n.573C>A
ENST00000492773.6:c.308C>A
ENST00000647636.1:c.576C>A	ENSP00000497505.1:p.His192Gln
ENST00000647909.1:c.600C>A	ENSP00000498164.1:p.His200Gln
ENST00000648145.1:c.344C>A
ENST00000648189.1:c.326C>A
ENST00000648256.1:c.525C>A	ENSP00000497356.1:p.His175Gln
ENST00000648314.1:c.576C>A	ENSP00000496920.1:p.His192Gln
ENST00000648599.1:c.576C>A	ENSP00000497159.1:p.His192Gln
ENST00000648630.1:c.570C>A	ENSP00000497887.1:p.His190Gln
ENST00000648682.1:c.576C>A	ENSP00000498185.1:p.His192Gln
ENST00000648882.1:c.*402C>A	ENSP00000497603.1:n.*402C>A
ENST00000648890.1:c.576C>A	ENSP00000497503.1:p.His192Gln
ENST00000648915.2:c.576C>A MANE Select	ENSP00000497160.1:p.His192Gln
ENST00000649545.1:c.310C>A
ENST00000649688.1:c.576C>A	ENSP00000497097.1:p.His192Gln
ENST00000649814.1:n.625C>A
ENST00000650270.1:c.443C>A
ENST00000273783.7:c.576C>A	ENSP00000273783.3:p.His192Gln
ENST00000432982.5:c.245+1292C>A
ENST00000444495.1:c.576C>A	ENSP00000409142.1:p.His192Gln
ENST00000468748.5:n.29C>A
ENST00000481054.5:n.577C>A
ENST00000491008.5:n.540C>A
ENST00000491144.5:n.1016C>A
ENST00000498831.1:n.531C>A
NM_003907.2:c.576C>A	NP_003898.2:p.His192Gln
XR_924208.1:n.1527C>A
NM_003907.3:c.576C>A MANE Select	NP_003898.2:p.His192Gln
XM_011513266.3:c.-326C>A	XP_011511568.1:n.-326C>A
XR_001740352.2:n.939C>A
XR_001740353.2:n.939C>A
XR_924208.2:n.939C>A