Canonical Allele Identifier: CA355385843

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858391C>G (hg19) ; chr3:g.184140603C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140603C>G , CM000665.2:g.184140603C>G	GRCh38
NC_000003.11:g.183858391C>G , CM000665.1:g.183858391C>G	GRCh37
NC_000003.10:g.185341085C>G	NCBI36
NG_015826.1:g.10582C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1052C>G
ENST00000468748.7:n.1272C>G
ENST00000484154.2:n.1387-1322C>G
ENST00000491008.6:n.1777C>G
ENST00000492226.2:n.1286C>G
ENST00000492773.6:c.783C>G
ENST00000647636.1:c.1029C>G	ENSP00000497505.1:p.Tyr343Ter
ENST00000647909.1:c.1053C>G	ENSP00000498164.1:p.Tyr351Ter
ENST00000648145.1:c.797C>G
ENST00000648189.1:c.843C>G
ENST00000648256.1:c.1001C>G	ENSP00000497356.1:n.1001C>G
ENST00000648314.1:c.*148C>G	ENSP00000496920.1:n.*148C>G
ENST00000648599.1:c.*312C>G	ENSP00000497159.1:n.*312C>G
ENST00000648630.1:c.1023C>G	ENSP00000497887.1:p.Tyr341Ter
ENST00000648682.1:c.1029C>G	ENSP00000498185.1:p.Tyr343Ter
ENST00000648882.1:c.*855C>G	ENSP00000497603.1:n.*855C>G
ENST00000648890.1:c.1029C>G	ENSP00000497503.1:p.Tyr343Ter
ENST00000648915.2:c.1029C>G MANE Select	ENSP00000497160.1:p.Tyr343Ter
ENST00000649545.1:c.577+446C>G
ENST00000649688.1:c.*312C>G	ENSP00000497097.1:n.*312C>G
ENST00000649814.1:n.1078C>G
ENST00000650270.1:c.896C>G
ENST00000273783.7:c.1029C>G	ENSP00000273783.3:p.Tyr343Ter
ENST00000432982.5:c.246-1634C>G
ENST00000444495.1:c.1029C>G	ENSP00000409142.1:p.Tyr343Ter
ENST00000479833.1:n.345C>G
ENST00000481054.5:n.1123C>G
ENST00000491144.5:n.1533C>G
ENST00000493740.1:n.259C>G
NM_003907.2:c.1029C>G	NP_003898.2:p.Tyr343Ter
XM_011513265.1:c.279C>G	XP_011511567.1:p.Tyr93Ter
XM_011513266.1:c.192C>G	XP_011511568.1:p.Tyr64Ter
XR_924208.1:n.1980C>G
NM_003907.3:c.1029C>G MANE Select	NP_003898.2:p.Tyr343Ter
XM_011513266.3:c.192C>G	XP_011511568.1:p.Tyr64Ter
XR_001740352.2:n.1392C>G
XR_001740353.2:n.1392C>G
XR_924208.2:n.1392C>G