Canonical Allele Identifier: CA2668796196

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184137538-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137538C>A , CM000665.2:g.184137538C>A	GRCh38
NC_000003.11:g.183855326C>A , CM000665.1:g.183855326C>A	GRCh37
NC_000003.10:g.185338020C>A	NCBI36
NG_015826.1:g.7517C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.344-82C>A
ENST00000468748.7:n.304-82C>A
ENST00000484154.2:n.860C>A
ENST00000491008.6:n.987C>A
ENST00000492226.2:n.318-82C>A
ENST00000492773.6:c.53-82C>A
ENST00000647636.1:c.321-82C>A	ENSP00000497505.1:n.321-82C>A
ENST00000647909.1:c.321-82C>A	ENSP00000498164.1:n.321-82C>A
ENST00000648145.1:c.89-82C>A
ENST00000648189.1:c.71-82C>A
ENST00000648256.1:c.270-82C>A	ENSP00000497356.1:n.270-82C>A
ENST00000648314.1:c.321-82C>A	ENSP00000496920.1:n.321-82C>A
ENST00000648599.1:c.321-82C>A	ENSP00000497159.1:n.321-82C>A
ENST00000648630.1:c.315-82C>A	ENSP00000497887.1:n.315-82C>A
ENST00000648682.1:c.321-82C>A	ENSP00000498185.1:n.321-82C>A
ENST00000648882.1:c.*147-82C>A	ENSP00000497603.1:n.*147-82C>A
ENST00000648890.1:c.321-82C>A	ENSP00000497503.1:n.321-82C>A
ENST00000648915.2:c.321-82C>A MANE Select	ENSP00000497160.1:n.321-82C>A
ENST00000649545.1:c.55-82C>A
ENST00000649688.1:c.321-82C>A	ENSP00000497097.1:n.321-82C>A
ENST00000649814.1:n.370-82C>A
ENST00000650244.1:c.466-82C>A	ENSP00000497227.1:n.466-82C>A
ENST00000650270.1:c.188-82C>A
ENST00000273783.7:c.321-82C>A	ENSP00000273783.3:n.321-82C>A
ENST00000432982.5:c.245+863C>A
ENST00000444495.1:c.321-82C>A	ENSP00000409142.1:n.321-82C>A
ENST00000481054.5:n.322-82C>A
ENST00000491008.5:n.203C>A
ENST00000491144.5:n.669-82C>A
ENST00000498831.1:n.275+8C>A
NM_003907.2:c.321-82C>A	NP_003898.2:n.321-82C>A
XR_924208.1:n.1272-82C>A
NM_003907.3:c.321-82C>A MANE Select	NP_003898.2:n.321-82C>A
XM_011513266.3:c.-581-82C>A	XP_011511568.1:n.-581-82C>A
XR_001740352.2:n.684-82C>A
XR_001740353.2:n.684-82C>A
XR_924208.2:n.684-82C>A