Canonical Allele Identifier: CA355389581

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1167870991
• gnomAD v2: 3-183860071-C-G
• gnomAD v4: 3-184142283-C-G
• MyVariant Identifiers: chr3:g.183860071C>G (hg19) ; chr3:g.184142283C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142283C>G , CM000665.2:g.184142283C>G	GRCh38
NC_000003.11:g.183860071C>G , CM000665.1:g.183860071C>G	GRCh37
NC_000003.10:g.185342765C>G	NCBI36
NG_015826.1:g.12262C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1372C>G
ENST00000468748.7:n.1592C>G
ENST00000484154.2:n.1579C>G
ENST00000491008.6:n.2097C>G
ENST00000492226.2:n.1616C>G
ENST00000492773.6:c.1103C>G
ENST00000647636.1:c.*198C>G	ENSP00000497505.1:n.*198C>G
ENST00000647909.1:c.1373C>G	ENSP00000498164.1:p.Ser458Cys
ENST00000648145.1:c.1121C>G
ENST00000648189.1:c.1167C>G
ENST00000648256.1:c.1321C>G	ENSP00000497356.1:n.1321C>G
ENST00000648314.1:c.*468C>G	ENSP00000496920.1:n.*468C>G
ENST00000648599.1:c.*632C>G	ENSP00000497159.1:n.*632C>G
ENST00000648630.1:c.1228C>G	ENSP00000497887.1:n.1228C>G
ENST00000648682.1:c.*189C>G	ENSP00000498185.1:n.*189C>G
ENST00000648882.1:c.*1175C>G	ENSP00000497603.1:n.*1175C>G
ENST00000648890.1:c.1349C>G	ENSP00000497503.1:p.Ser450Cys
ENST00000648915.2:c.1349C>G MANE Select	ENSP00000497160.1:p.Ser450Cys
ENST00000649545.1:c.724-15C>G
ENST00000649688.1:c.*642C>G	ENSP00000497097.1:n.*642C>G
ENST00000649814.1:n.1398C>G
ENST00000650270.1:c.1216C>G
ENST00000273783.7:c.1349C>G	ENSP00000273783.3:p.Ser450Cys
ENST00000432982.5:c.292C>G
ENST00000444495.1:c.1349C>G	ENSP00000409142.1:p.Ser450Cys
ENST00000479250.1:n.176C>G
ENST00000481054.5:n.1443C>G
ENST00000491144.5:n.1853C>G
ENST00000492773.5:n.232C>G
NM_003907.2:c.1349C>G	NP_003898.2:p.Ser450Cys
XM_011513265.1:c.599C>G	XP_011511567.1:p.Ser200Cys
XM_011513266.1:c.512C>G	XP_011511568.1:p.Ser171Cys
XR_924208.1:n.2300C>G
NM_003907.3:c.1349C>G MANE Select	NP_003898.2:p.Ser450Cys
XM_011513266.3:c.512C>G	XP_011511568.1:p.Ser171Cys
XR_001740352.2:n.1712C>G
XR_001740353.2:n.1712C>G
XR_924208.2:n.1712C>G