Canonical Allele Identifier: CA355389529

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183860065T>G (hg19) ; chr3:g.184142277T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142277T>G , CM000665.2:g.184142277T>G	GRCh38
NC_000003.11:g.183860065T>G , CM000665.1:g.183860065T>G	GRCh37
NC_000003.10:g.185342759T>G	NCBI36
NG_015826.1:g.12256T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1366T>G
ENST00000468748.7:n.1586T>G
ENST00000484154.2:n.1573T>G
ENST00000491008.6:n.2091T>G
ENST00000492226.2:n.1610T>G
ENST00000492773.6:c.1097T>G
ENST00000647636.1:c.*192T>G	ENSP00000497505.1:n.*192T>G
ENST00000647909.1:c.1367T>G	ENSP00000498164.1:p.Val456Gly
ENST00000648145.1:c.1115T>G
ENST00000648189.1:c.1161T>G
ENST00000648256.1:c.1315T>G	ENSP00000497356.1:n.1315T>G
ENST00000648314.1:c.*462T>G	ENSP00000496920.1:n.*462T>G
ENST00000648599.1:c.*626T>G	ENSP00000497159.1:n.*626T>G
ENST00000648630.1:c.1222T>G	ENSP00000497887.1:n.1222T>G
ENST00000648682.1:c.*183T>G	ENSP00000498185.1:n.*183T>G
ENST00000648882.1:c.*1169T>G	ENSP00000497603.1:n.*1169T>G
ENST00000648890.1:c.1343T>G	ENSP00000497503.1:p.Val448Gly
ENST00000648915.2:c.1343T>G MANE Select	ENSP00000497160.1:p.Val448Gly
ENST00000649545.1:c.724-21T>G
ENST00000649688.1:c.*636T>G	ENSP00000497097.1:n.*636T>G
ENST00000649814.1:n.1392T>G
ENST00000650270.1:c.1210T>G
ENST00000273783.7:c.1343T>G	ENSP00000273783.3:p.Val448Gly
ENST00000432982.5:c.286T>G
ENST00000444495.1:c.1343T>G	ENSP00000409142.1:p.Val448Gly
ENST00000479250.1:n.170T>G
ENST00000481054.5:n.1437T>G
ENST00000491144.5:n.1847T>G
ENST00000492773.5:n.226T>G
NM_003907.2:c.1343T>G	NP_003898.2:p.Val448Gly
XM_011513265.1:c.593T>G	XP_011511567.1:p.Val198Gly
XM_011513266.1:c.506T>G	XP_011511568.1:p.Val169Gly
XR_924208.1:n.2294T>G
NM_003907.3:c.1343T>G MANE Select	NP_003898.2:p.Val448Gly
XM_011513266.3:c.506T>G	XP_011511568.1:p.Val169Gly
XR_001740352.2:n.1706T>G
XR_001740353.2:n.1706T>G
XR_924208.2:n.1706T>G