Canonical Allele Identifier: CA2668796267

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2783142
• ClinVar RCV Id: RCV003665874
• gnomAD v4: 3-184135600-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135600G>A , CM000665.2:g.184135600G>A	GRCh38
NC_000003.11:g.183853388G>A , CM000665.1:g.183853388G>A	GRCh37
NC_000003.10:g.185336082G>A	NCBI36
NG_015826.1:g.5579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.195+20G>A	ENSP00000414775.1:n.195+20G>A
ENST00000465218.3:n.218+20G>A
ENST00000468748.7:n.178+20G>A
ENST00000471832.2:c.215G>A	ENSP00000497786.1:p.Ser72Asn
ENST00000491008.6:n.60+20G>A
ENST00000492226.2:n.192+20G>A
ENST00000647636.1:c.195+20G>A	ENSP00000497505.1:n.195+20G>A
ENST00000647909.1:c.195+20G>A	ENSP00000498164.1:n.195+20G>A
ENST00000648256.1:c.144+20G>A	ENSP00000497356.1:n.144+20G>A
ENST00000648314.1:c.195+20G>A	ENSP00000496920.1:n.195+20G>A
ENST00000648599.1:c.195+20G>A	ENSP00000497159.1:n.195+20G>A
ENST00000648630.1:c.189+20G>A	ENSP00000497887.1:n.189+20G>A
ENST00000648682.1:c.195+20G>A	ENSP00000498185.1:n.195+20G>A
ENST00000648882.1:c.215G>A	ENSP00000497603.1:p.Ser72Asn
ENST00000648890.1:c.195+20G>A	ENSP00000497503.1:n.195+20G>A
ENST00000648915.2:c.195+20G>A MANE Select	ENSP00000497160.1:n.195+20G>A
ENST00000649688.1:c.195+20G>A	ENSP00000497097.1:n.195+20G>A
ENST00000649814.1:n.244+20G>A
ENST00000650244.1:c.87+20G>A	ENSP00000497227.1:n.87+20G>A
ENST00000650270.1:c.62+20G>A
ENST00000273783.7:c.195+20G>A	ENSP00000273783.3:n.195+20G>A
ENST00000432569.1:c.195+20G>A	ENSP00000414775.1:n.195+20G>A
ENST00000432982.5:c.181+20G>A
ENST00000444495.1:c.195+20G>A	ENSP00000409142.1:n.195+20G>A
ENST00000481054.5:n.196+20G>A
ENST00000491144.5:n.543+20G>A
NM_003907.2:c.195+20G>A	NP_003898.2:n.195+20G>A
XR_924208.1:n.1146+20G>A
NM_003907.3:c.195+20G>A MANE Select	NP_003898.2:n.195+20G>A
XM_011513266.3:c.-707+20G>A	XP_011511568.1:n.-707+20G>A
XR_001740352.2:n.558+20G>A
XR_001740353.2:n.558+20G>A
XR_924208.2:n.558+20G>A