Canonical Allele Identifier: CA355382489

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713447061
• gnomAD v3: 3-184138070-C-G
• gnomAD v4: 3-184138070-C-G
• MyVariant Identifiers: chr3:g.183855858C>G (hg19) ; chr3:g.184138070C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138070C>G , CM000665.2:g.184138070C>G	GRCh38
NC_000003.11:g.183855858C>G , CM000665.1:g.183855858C>G	GRCh37
NC_000003.10:g.185338552C>G	NCBI36
NG_015826.1:g.8049C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.702C>G
ENST00000468748.7:n.662C>G
ENST00000484154.2:n.1300C>G
ENST00000491008.6:n.1427C>G
ENST00000492226.2:n.676C>G
ENST00000492773.6:c.411C>G
ENST00000647636.1:c.679C>G	ENSP00000497505.1:p.Pro227Ala
ENST00000647909.1:c.703C>G	ENSP00000498164.1:p.Pro235Ala
ENST00000648145.1:c.447C>G
ENST00000648189.1:c.429C>G
ENST00000648256.1:c.628C>G	ENSP00000497356.1:p.Pro210Ala
ENST00000648314.1:c.679C>G	ENSP00000496920.1:p.Pro227Ala
ENST00000648599.1:c.679C>G	ENSP00000497159.1:p.Pro227Ala
ENST00000648630.1:c.673C>G	ENSP00000497887.1:p.Pro225Ala
ENST00000648682.1:c.679C>G	ENSP00000498185.1:p.Pro227Ala
ENST00000648882.1:c.*505C>G	ENSP00000497603.1:n.*505C>G
ENST00000648890.1:c.679C>G	ENSP00000497503.1:p.Pro227Ala
ENST00000648915.2:c.679C>G MANE Select	ENSP00000497160.1:p.Pro227Ala
ENST00000649545.1:c.413C>G
ENST00000649688.1:c.679C>G	ENSP00000497097.1:p.Pro227Ala
ENST00000649814.1:n.728C>G
ENST00000650270.1:c.546C>G
ENST00000273783.7:c.679C>G	ENSP00000273783.3:p.Pro227Ala
ENST00000432982.5:c.245+1395C>G
ENST00000444495.1:c.679C>G	ENSP00000409142.1:p.Pro227Ala
ENST00000468748.5:n.132C>G
ENST00000481054.5:n.680C>G
ENST00000491008.5:n.643C>G
ENST00000491144.5:n.1119C>G
NM_003907.2:c.679C>G	NP_003898.2:p.Pro227Ala
XR_924208.1:n.1630C>G
NM_003907.3:c.679C>G MANE Select	NP_003898.2:p.Pro227Ala
XM_011513266.3:c.-223C>G	XP_011511568.1:n.-223C>G
XR_001740352.2:n.1042C>G
XR_001740353.2:n.1042C>G
XR_924208.2:n.1042C>G