Canonical Allele Identifier: CA355382854

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855964A>T (hg19) ; chr3:g.184138176A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138176A>T , CM000665.2:g.184138176A>T	GRCh38
NC_000003.11:g.183855964A>T , CM000665.1:g.183855964A>T	GRCh37
NC_000003.10:g.185338658A>T	NCBI36
NG_015826.1:g.8155A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.718A>T
ENST00000468748.7:n.678A>T
ENST00000484154.2:n.1316A>T
ENST00000491008.6:n.1443A>T
ENST00000492226.2:n.692A>T
ENST00000492773.6:c.449A>T
ENST00000647636.1:c.695A>T	ENSP00000497505.1:p.Gln232Leu
ENST00000647909.1:c.719A>T	ENSP00000498164.1:p.Gln240Leu
ENST00000648145.1:c.463A>T
ENST00000648189.1:c.445A>T
ENST00000648256.1:c.644A>T	ENSP00000497356.1:p.Gln215Leu
ENST00000648314.1:c.695A>T	ENSP00000496920.1:p.Gln232Leu
ENST00000648599.1:c.695A>T	ENSP00000497159.1:p.Gln232Leu
ENST00000648630.1:c.689A>T	ENSP00000497887.1:p.Gln230Leu
ENST00000648682.1:c.695A>T	ENSP00000498185.1:p.Gln232Leu
ENST00000648882.1:c.*521A>T	ENSP00000497603.1:n.*521A>T
ENST00000648890.1:c.695A>T	ENSP00000497503.1:p.Gln232Leu
ENST00000648915.2:c.695A>T MANE Select	ENSP00000497160.1:p.Gln232Leu
ENST00000649545.1:c.429A>T
ENST00000649688.1:c.695A>T	ENSP00000497097.1:p.Gln232Leu
ENST00000649814.1:n.744A>T
ENST00000650270.1:c.562A>T
ENST00000273783.7:c.695A>T	ENSP00000273783.3:p.Gln232Leu
ENST00000432982.5:c.245+1501A>T
ENST00000444495.1:c.695A>T	ENSP00000409142.1:p.Gln232Leu
ENST00000468748.5:n.148A>T
ENST00000479833.1:n.11A>T
ENST00000481054.5:n.696A>T
ENST00000491008.5:n.659A>T
ENST00000491144.5:n.1135A>T
NM_003907.2:c.695A>T	NP_003898.2:p.Gln232Leu
XR_924208.1:n.1646A>T
NM_003907.3:c.695A>T MANE Select	NP_003898.2:p.Gln232Leu
XM_011513266.3:c.-207A>T	XP_011511568.1:n.-207A>T
XR_001740352.2:n.1058A>T
XR_001740353.2:n.1058A>T
XR_924208.2:n.1058A>T