Canonical Allele Identifier: CA355389504

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184142274-C-G
• MyVariant Identifiers: chr3:g.183860062C>G (hg19) ; chr3:g.184142274C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142274C>G , CM000665.2:g.184142274C>G	GRCh38
NC_000003.11:g.183860062C>G , CM000665.1:g.183860062C>G	GRCh37
NC_000003.10:g.185342756C>G	NCBI36
NG_015826.1:g.12253C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1363C>G
ENST00000468748.7:n.1583C>G
ENST00000484154.2:n.1570C>G
ENST00000491008.6:n.2088C>G
ENST00000492226.2:n.1607C>G
ENST00000492773.6:c.1094C>G
ENST00000647636.1:c.*189C>G	ENSP00000497505.1:n.*189C>G
ENST00000647909.1:c.1364C>G	ENSP00000498164.1:p.Ser455Trp
ENST00000648145.1:c.1112C>G
ENST00000648189.1:c.1158C>G
ENST00000648256.1:c.1312C>G	ENSP00000497356.1:n.1312C>G
ENST00000648314.1:c.*459C>G	ENSP00000496920.1:n.*459C>G
ENST00000648599.1:c.*623C>G	ENSP00000497159.1:n.*623C>G
ENST00000648630.1:c.1219C>G	ENSP00000497887.1:n.1219C>G
ENST00000648682.1:c.*180C>G	ENSP00000498185.1:n.*180C>G
ENST00000648882.1:c.*1166C>G	ENSP00000497603.1:n.*1166C>G
ENST00000648890.1:c.1340C>G	ENSP00000497503.1:p.Ser447Trp
ENST00000648915.2:c.1340C>G MANE Select	ENSP00000497160.1:p.Ser447Trp
ENST00000649545.1:c.724-24C>G
ENST00000649688.1:c.*633C>G	ENSP00000497097.1:n.*633C>G
ENST00000649814.1:n.1389C>G
ENST00000650270.1:c.1207C>G
ENST00000273783.7:c.1340C>G	ENSP00000273783.3:p.Ser447Trp
ENST00000432982.5:c.283C>G
ENST00000444495.1:c.1340C>G	ENSP00000409142.1:p.Ser447Trp
ENST00000479250.1:n.167C>G
ENST00000481054.5:n.1434C>G
ENST00000491144.5:n.1844C>G
ENST00000492773.5:n.223C>G
NM_003907.2:c.1340C>G	NP_003898.2:p.Ser447Trp
XM_011513265.1:c.590C>G	XP_011511567.1:p.Ser197Trp
XM_011513266.1:c.503C>G	XP_011511568.1:p.Ser168Trp
XR_924208.1:n.2291C>G
NM_003907.3:c.1340C>G MANE Select	NP_003898.2:p.Ser447Trp
XM_011513266.3:c.503C>G	XP_011511568.1:p.Ser168Trp
XR_001740352.2:n.1703C>G
XR_001740353.2:n.1703C>G
XR_924208.2:n.1703C>G