Canonical Allele Identifier: CA437147742

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859726G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141938G>T , CM000665.2:g.184141938G>T	GRCh38
NC_000003.11:g.183859726G>T , CM000665.1:g.183859726G>T	GRCh37
NC_000003.10:g.185342420G>T	NCBI36
NG_015826.1:g.11917G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1193G>T
ENST00000468748.7:n.1413G>T
ENST00000484154.2:n.1400G>T
ENST00000491008.6:n.1918G>T
ENST00000492226.2:n.1437G>T
ENST00000492773.6:c.924G>T
ENST00000647636.1:c.*19G>T	ENSP00000497505.1:n.*19G>T
ENST00000647909.1:c.1194G>T	ENSP00000498164.1:p.Val398=
ENST00000648145.1:c.942G>T
ENST00000648189.1:c.988G>T
ENST00000648256.1:c.1142G>T	ENSP00000497356.1:n.1142G>T
ENST00000648314.1:c.*289G>T	ENSP00000496920.1:n.*289G>T
ENST00000648599.1:c.*453G>T	ENSP00000497159.1:n.*453G>T
ENST00000648630.1:c.1049G>T	ENSP00000497887.1:p.Cys350Phe
ENST00000648682.1:c.*10G>T	ENSP00000498185.1:n.*10G>T
ENST00000648882.1:c.*996G>T	ENSP00000497603.1:n.*996G>T
ENST00000648890.1:c.1170G>T	ENSP00000497503.1:p.Val390=
ENST00000648915.2:c.1170G>T MANE Select	ENSP00000497160.1:p.Val390=
ENST00000649545.1:c.591G>T
ENST00000649688.1:c.*463G>T	ENSP00000497097.1:n.*463G>T
ENST00000649814.1:n.1219G>T
ENST00000650270.1:c.1037G>T
ENST00000273783.7:c.1170G>T	ENSP00000273783.3:p.Val390=
ENST00000432982.5:c.246-299G>T
ENST00000444495.1:c.1170G>T	ENSP00000409142.1:p.Val390=
ENST00000479833.1:n.371G>T
ENST00000481054.5:n.1264G>T
ENST00000491144.5:n.1674G>T
ENST00000492773.5:n.53G>T
NM_003907.2:c.1170G>T	NP_003898.2:p.Val390=
XM_011513265.1:c.420G>T	XP_011511567.1:p.Val140=
XM_011513266.1:c.333G>T	XP_011511568.1:p.Val111=
XR_924208.1:n.2121G>T
NM_003907.3:c.1170G>T MANE Select	NP_003898.2:p.Val390=
XM_011513266.3:c.333G>T	XP_011511568.1:p.Val111=
XR_001740352.2:n.1533G>T
XR_001740353.2:n.1533G>T
XR_924208.2:n.1533G>T