Canonical Allele Identifier: CA355382946

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855985A>T (hg19) ; chr3:g.184138197A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138197A>T , CM000665.2:g.184138197A>T	GRCh38
NC_000003.11:g.183855985A>T , CM000665.1:g.183855985A>T	GRCh37
NC_000003.10:g.185338679A>T	NCBI36
NG_015826.1:g.8176A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.739A>T
ENST00000468748.7:n.699A>T
ENST00000484154.2:n.1337A>T
ENST00000491008.6:n.1464A>T
ENST00000492226.2:n.713A>T
ENST00000492773.6:c.470A>T
ENST00000647636.1:c.716A>T	ENSP00000497505.1:p.Glu239Val
ENST00000647909.1:c.740A>T	ENSP00000498164.1:p.Glu247Val
ENST00000648145.1:c.484A>T
ENST00000648189.1:c.466A>T
ENST00000648256.1:c.665A>T	ENSP00000497356.1:p.Glu222Val
ENST00000648314.1:c.716A>T	ENSP00000496920.1:p.Glu239Val
ENST00000648599.1:c.716A>T	ENSP00000497159.1:p.Glu239Val
ENST00000648630.1:c.710A>T	ENSP00000497887.1:p.Glu237Val
ENST00000648682.1:c.716A>T	ENSP00000498185.1:p.Glu239Val
ENST00000648882.1:c.*542A>T	ENSP00000497603.1:n.*542A>T
ENST00000648890.1:c.716A>T	ENSP00000497503.1:p.Glu239Val
ENST00000648915.2:c.716A>T MANE Select	ENSP00000497160.1:p.Glu239Val
ENST00000649545.1:c.450A>T
ENST00000649688.1:c.716A>T	ENSP00000497097.1:p.Glu239Val
ENST00000649814.1:n.765A>T
ENST00000650270.1:c.583A>T
ENST00000273783.7:c.716A>T	ENSP00000273783.3:p.Glu239Val
ENST00000432982.5:c.245+1522A>T
ENST00000444495.1:c.716A>T	ENSP00000409142.1:p.Glu239Val
ENST00000468748.5:n.169A>T
ENST00000479833.1:n.32A>T
ENST00000481054.5:n.717A>T
ENST00000491008.5:n.680A>T
ENST00000491144.5:n.1156A>T
NM_003907.2:c.716A>T	NP_003898.2:p.Glu239Val
XR_924208.1:n.1667A>T
NM_003907.3:c.716A>T MANE Select	NP_003898.2:p.Glu239Val
XM_011513266.3:c.-186A>T	XP_011511568.1:n.-186A>T
XR_001740352.2:n.1079A>T
XR_001740353.2:n.1079A>T
XR_924208.2:n.1079A>T