Canonical Allele Identifier: CA2726306

Gene: EIF2B5

Linked Data

• dbSNP Id: rs756880751
• ExAC: 3:183853228 C / G
• gnomAD v2: 3-183853228-C-G
• gnomAD v4: 3-184135440-C-G
• MyVariant Identifiers: chr3:g.183853228C>G (hg19) ; chr3:g.184135440C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135440C>G , CM000665.2:g.184135440C>G	GRCh38
NC_000003.11:g.183853228C>G , CM000665.1:g.183853228C>G	GRCh37
NC_000003.10:g.185335922C>G	NCBI36
NG_015826.1:g.5419C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.55C>G	ENSP00000414775.1:p.Arg19Gly
ENST00000465218.3:n.78C>G
ENST00000468748.7:n.38C>G
ENST00000471832.2:c.55C>G	ENSP00000497786.1:p.Arg19Gly
ENST00000492226.2:n.52C>G
ENST00000647636.1:c.55C>G	ENSP00000497505.1:p.Arg19Gly
ENST00000647909.1:c.55C>G	ENSP00000498164.1:p.Arg19Gly
ENST00000648256.1:c.4C>G	ENSP00000497356.1:p.Arg2Gly
ENST00000648314.1:c.55C>G	ENSP00000496920.1:p.Arg19Gly
ENST00000648599.1:c.55C>G	ENSP00000497159.1:p.Arg19Gly
ENST00000648630.1:c.49C>G	ENSP00000497887.1:p.Arg17Gly
ENST00000648682.1:c.55C>G	ENSP00000498185.1:p.Arg19Gly
ENST00000648882.1:c.55C>G	ENSP00000497603.1:p.Arg19Gly
ENST00000648890.1:c.55C>G	ENSP00000497503.1:p.Arg19Gly
ENST00000648915.2:c.55C>G MANE Select	ENSP00000497160.1:p.Arg19Gly
ENST00000649688.1:c.55C>G	ENSP00000497097.1:p.Arg19Gly
ENST00000649814.1:n.104C>G
ENST00000273783.7:c.55C>G	ENSP00000273783.3:p.Arg19Gly
ENST00000432569.1:c.55C>G	ENSP00000414775.1:p.Arg19Gly
ENST00000432982.5:c.41C>G
ENST00000444495.1:c.55C>G	ENSP00000409142.1:p.Arg19Gly
ENST00000481054.5:n.56C>G
ENST00000491144.5:n.403C>G
NM_003907.2:c.55C>G	NP_003898.2:p.Arg19Gly
XR_924208.1:n.1006C>G
NM_003907.3:c.55C>G MANE Select	NP_003898.2:p.Arg19Gly
XM_011513266.3:c.-847C>G	XP_011511568.1:n.-847C>G
XR_001740352.2:n.418C>G
XR_001740353.2:n.418C>G
XR_924208.2:n.418C>G