Canonical Allele Identifier: CA355383080

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183856016C>G (hg19) ; chr3:g.184138228C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138228C>G , CM000665.2:g.184138228C>G	GRCh38
NC_000003.11:g.183856016C>G , CM000665.1:g.183856016C>G	GRCh37
NC_000003.10:g.185338710C>G	NCBI36
NG_015826.1:g.8207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.770C>G
ENST00000468748.7:n.730C>G
ENST00000484154.2:n.1368C>G
ENST00000491008.6:n.1495C>G
ENST00000492226.2:n.744C>G
ENST00000492773.6:c.501C>G
ENST00000647636.1:c.747C>G	ENSP00000497505.1:p.Ile249Met
ENST00000647909.1:c.771C>G	ENSP00000498164.1:p.Ile257Met
ENST00000648145.1:c.515C>G
ENST00000648189.1:c.497C>G
ENST00000648256.1:c.696C>G	ENSP00000497356.1:p.Ile232Met
ENST00000648314.1:c.747C>G	ENSP00000496920.1:p.Ile249Met
ENST00000648599.1:c.747C>G	ENSP00000497159.1:p.Ile249Met
ENST00000648630.1:c.741C>G	ENSP00000497887.1:p.Ile247Met
ENST00000648682.1:c.747C>G	ENSP00000498185.1:p.Ile249Met
ENST00000648882.1:c.*573C>G	ENSP00000497603.1:n.*573C>G
ENST00000648890.1:c.747C>G	ENSP00000497503.1:p.Ile249Met
ENST00000648915.2:c.747C>G MANE Select	ENSP00000497160.1:p.Ile249Met
ENST00000649545.1:c.481C>G
ENST00000649688.1:c.747C>G	ENSP00000497097.1:p.Ile249Met
ENST00000649814.1:n.796C>G
ENST00000650270.1:c.614C>G
ENST00000273783.7:c.747C>G	ENSP00000273783.3:p.Ile249Met
ENST00000432982.5:c.245+1553C>G
ENST00000444495.1:c.747C>G	ENSP00000409142.1:p.Ile249Met
ENST00000468748.5:n.200C>G
ENST00000479833.1:n.63C>G
ENST00000481054.5:n.748C>G
ENST00000491008.5:n.711C>G
ENST00000491144.5:n.1187C>G
NM_003907.2:c.747C>G	NP_003898.2:p.Ile249Met
XR_924208.1:n.1698C>G
NM_003907.3:c.747C>G MANE Select	NP_003898.2:p.Ile249Met
XM_011513266.3:c.-155C>G	XP_011511568.1:n.-155C>G
XR_001740352.2:n.1110C>G
XR_001740353.2:n.1110C>G
XR_924208.2:n.1110C>G