Canonical Allele Identifier: CA437146684

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183856016C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.770C>T
ENST00000468748.7:n.730C>T
ENST00000484154.2:n.1368C>T
ENST00000491008.6:n.1495C>T
ENST00000492226.2:n.744C>T
ENST00000492773.6:c.501C>T
ENST00000647636.1:c.747C>T	ENSP00000497505.1:p.Ile249=
ENST00000647909.1:c.771C>T	ENSP00000498164.1:p.Ile257=
ENST00000648145.1:c.515C>T
ENST00000648189.1:c.497C>T
ENST00000648256.1:c.696C>T	ENSP00000497356.1:p.Ile232=
ENST00000648314.1:c.747C>T	ENSP00000496920.1:p.Ile249=
ENST00000648599.1:c.747C>T	ENSP00000497159.1:p.Ile249=
ENST00000648630.1:c.741C>T	ENSP00000497887.1:p.Ile247=
ENST00000648682.1:c.747C>T	ENSP00000498185.1:p.Ile249=
ENST00000648882.1:c.*573C>T	ENSP00000497603.1:n.*573C>T
ENST00000648890.1:c.747C>T	ENSP00000497503.1:p.Ile249=
ENST00000648915.2:c.747C>T MANE Select	ENSP00000497160.1:p.Ile249=
ENST00000649545.1:c.481C>T
ENST00000649688.1:c.747C>T	ENSP00000497097.1:p.Ile249=
ENST00000649814.1:n.796C>T
ENST00000650270.1:c.614C>T
ENST00000273783.7:c.747C>T	ENSP00000273783.3:p.Ile249=
ENST00000432982.5:c.245+1553C>T
ENST00000444495.1:c.747C>T	ENSP00000409142.1:p.Ile249=
ENST00000468748.5:n.200C>T
ENST00000479833.1:n.63C>T
ENST00000481054.5:n.748C>T
ENST00000491008.5:n.711C>T
ENST00000491144.5:n.1187C>T
NM_003907.2:c.747C>T	NP_003898.2:p.Ile249=
XR_924208.1:n.1698C>T
NM_003907.3:c.747C>T MANE Select	NP_003898.2:p.Ile249=
XM_011513266.3:c.-155C>T	XP_011511568.1:n.-155C>T
XR_001740352.2:n.1110C>T
XR_001740353.2:n.1110C>T
XR_924208.2:n.1110C>T