Canonical Allele Identifier: CA2726430

Gene: EIF2B5

Linked Data

• dbSNP Id: rs201115066
• ExAC: 3:183855793 T / G
• gnomAD v2: 3-183855793-T-G
• gnomAD v4: 3-184138005-T-G
• MyVariant Identifiers: chr3:g.183855793T>G (hg19) ; chr3:g.184138005T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138005T>G , CM000665.2:g.184138005T>G	GRCh38
NC_000003.11:g.183855793T>G , CM000665.1:g.183855793T>G	GRCh37
NC_000003.10:g.185338487T>G	NCBI36
NG_015826.1:g.7984T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.637T>G
ENST00000468748.7:n.597T>G
ENST00000484154.2:n.1235T>G
ENST00000491008.6:n.1362T>G
ENST00000492226.2:n.611T>G
ENST00000492773.6:c.346T>G
ENST00000647636.1:c.614T>G	ENSP00000497505.1:p.Val205Gly
ENST00000647909.1:c.638T>G	ENSP00000498164.1:p.Val213Gly
ENST00000648145.1:c.382T>G
ENST00000648189.1:c.364T>G
ENST00000648256.1:c.563T>G	ENSP00000497356.1:p.Val188Gly
ENST00000648314.1:c.614T>G	ENSP00000496920.1:p.Val205Gly
ENST00000648599.1:c.614T>G	ENSP00000497159.1:p.Val205Gly
ENST00000648630.1:c.608T>G	ENSP00000497887.1:p.Val203Gly
ENST00000648682.1:c.614T>G	ENSP00000498185.1:p.Val205Gly
ENST00000648882.1:c.*440T>G	ENSP00000497603.1:n.*440T>G
ENST00000648890.1:c.614T>G	ENSP00000497503.1:p.Val205Gly
ENST00000648915.2:c.614T>G MANE Select	ENSP00000497160.1:p.Val205Gly
ENST00000649545.1:c.348T>G
ENST00000649688.1:c.614T>G	ENSP00000497097.1:p.Val205Gly
ENST00000649814.1:n.663T>G
ENST00000650270.1:c.481T>G
ENST00000273783.7:c.614T>G	ENSP00000273783.3:p.Val205Gly
ENST00000432982.5:c.245+1330T>G
ENST00000444495.1:c.614T>G	ENSP00000409142.1:p.Val205Gly
ENST00000468748.5:n.67T>G
ENST00000481054.5:n.615T>G
ENST00000491008.5:n.578T>G
ENST00000491144.5:n.1054T>G
ENST00000498831.1:n.569T>G
NM_003907.2:c.614T>G	NP_003898.2:p.Val205Gly
XR_924208.1:n.1565T>G
NM_003907.3:c.614T>G MANE Select	NP_003898.2:p.Val205Gly
XM_011513266.3:c.-288T>G	XP_011511568.1:n.-288T>G
XR_001740352.2:n.977T>G
XR_001740353.2:n.977T>G
XR_924208.2:n.977T>G