Canonical Allele Identifier: CA2726403

Gene: EIF2B5

Linked Data

• dbSNP Id: rs761708632
• ExAC: 3:183855581 T / A
• gnomAD v2: 3-183855581-T-A
• gnomAD v3: 3-184137793-T-A
• gnomAD v4: 3-184137793-T-A
• MyVariant Identifiers: chr3:g.183855581T>A (hg19) ; chr3:g.184137793T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137793T>A , CM000665.2:g.184137793T>A	GRCh38
NC_000003.11:g.183855581T>A , CM000665.1:g.183855581T>A	GRCh37
NC_000003.10:g.185338275T>A	NCBI36
NG_015826.1:g.7772T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.517T>A
ENST00000468748.7:n.477T>A
ENST00000484154.2:n.1115T>A
ENST00000491008.6:n.1242T>A
ENST00000492226.2:n.491T>A
ENST00000492773.6:c.226T>A
ENST00000647636.1:c.494T>A	ENSP00000497505.1:p.Leu165His
ENST00000647909.1:c.494T>A	ENSP00000498164.1:p.Leu165His
ENST00000648145.1:c.262T>A
ENST00000648189.1:c.244T>A
ENST00000648256.1:c.443T>A	ENSP00000497356.1:p.Leu148His
ENST00000648314.1:c.494T>A	ENSP00000496920.1:p.Leu165His
ENST00000648599.1:c.494T>A	ENSP00000497159.1:p.Leu165His
ENST00000648630.1:c.488T>A	ENSP00000497887.1:p.Leu163His
ENST00000648682.1:c.494T>A	ENSP00000498185.1:p.Leu165His
ENST00000648882.1:c.*320T>A	ENSP00000497603.1:n.*320T>A
ENST00000648890.1:c.494T>A	ENSP00000497503.1:p.Leu165His
ENST00000648915.2:c.494T>A MANE Select	ENSP00000497160.1:p.Leu165His
ENST00000649545.1:c.228T>A
ENST00000649688.1:c.494T>A	ENSP00000497097.1:p.Leu165His
ENST00000649814.1:n.543T>A
ENST00000650244.1:c.639T>A	ENSP00000497227.1:n.639T>A
ENST00000650270.1:c.361T>A
ENST00000273783.7:c.494T>A	ENSP00000273783.3:p.Leu165His
ENST00000432982.5:c.245+1118T>A
ENST00000444495.1:c.494T>A	ENSP00000409142.1:p.Leu165His
ENST00000481054.5:n.495T>A
ENST00000491008.5:n.458T>A
ENST00000491144.5:n.842T>A
ENST00000498831.1:n.449T>A
NM_003907.2:c.494T>A	NP_003898.2:p.Leu165His
XR_924208.1:n.1445T>A
NM_003907.3:c.494T>A MANE Select	NP_003898.2:p.Leu165His
XM_011513266.3:c.-408T>A	XP_011511568.1:n.-408T>A
XR_001740352.2:n.857T>A
XR_001740353.2:n.857T>A
XR_924208.2:n.857T>A