Canonical Allele Identifier: CA2668796338

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184137878-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137878G>A , CM000665.2:g.184137878G>A	GRCh38
NC_000003.11:g.183855666G>A , CM000665.1:g.183855666G>A	GRCh37
NC_000003.10:g.185338360G>A	NCBI36
NG_015826.1:g.7857G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.530-20G>A
ENST00000468748.7:n.490-20G>A
ENST00000484154.2:n.1128-20G>A
ENST00000491008.6:n.1255-20G>A
ENST00000492226.2:n.504-20G>A
ENST00000492773.6:c.239-20G>A
ENST00000647636.1:c.507-20G>A	ENSP00000497505.1:n.507-20G>A
ENST00000647909.1:c.511G>A	ENSP00000498164.1:p.Val171Ile
ENST00000648145.1:c.275-20G>A
ENST00000648189.1:c.257-20G>A
ENST00000648256.1:c.456-20G>A	ENSP00000497356.1:n.456-20G>A
ENST00000648314.1:c.507-20G>A	ENSP00000496920.1:n.507-20G>A
ENST00000648599.1:c.507-20G>A	ENSP00000497159.1:n.507-20G>A
ENST00000648630.1:c.501-20G>A	ENSP00000497887.1:n.501-20G>A
ENST00000648682.1:c.507-20G>A	ENSP00000498185.1:n.507-20G>A
ENST00000648882.1:c.*333-20G>A	ENSP00000497603.1:n.*333-20G>A
ENST00000648890.1:c.507-20G>A	ENSP00000497503.1:n.507-20G>A
ENST00000648915.2:c.507-20G>A MANE Select	ENSP00000497160.1:n.507-20G>A
ENST00000649545.1:c.241-20G>A
ENST00000649688.1:c.507-20G>A	ENSP00000497097.1:n.507-20G>A
ENST00000649814.1:n.556-20G>A
ENST00000650244.1:c.652-20G>A	ENSP00000497227.1:n.652-20G>A
ENST00000650270.1:c.374-20G>A
ENST00000273783.7:c.507-20G>A	ENSP00000273783.3:n.507-20G>A
ENST00000432982.5:c.245+1203G>A
ENST00000444495.1:c.507-20G>A	ENSP00000409142.1:n.507-20G>A
ENST00000481054.5:n.508-20G>A
ENST00000491008.5:n.471-20G>A
ENST00000491144.5:n.927G>A
ENST00000498831.1:n.462-20G>A
NM_003907.2:c.507-20G>A	NP_003898.2:n.507-20G>A
XR_924208.1:n.1458-20G>A
NM_003907.3:c.507-20G>A MANE Select	NP_003898.2:n.507-20G>A
XM_011513266.3:c.-395-20G>A	XP_011511568.1:n.-395-20G>A
XR_001740352.2:n.870-20G>A
XR_001740353.2:n.870-20G>A
XR_924208.2:n.870-20G>A