Canonical Allele Identifier: CA437147748

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859735G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141947G>A , CM000665.2:g.184141947G>A	GRCh38
NC_000003.11:g.183859735G>A , CM000665.1:g.183859735G>A	GRCh37
NC_000003.10:g.185342429G>A	NCBI36
NG_015826.1:g.11926G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1202G>A
ENST00000468748.7:n.1422G>A
ENST00000484154.2:n.1409G>A
ENST00000491008.6:n.1927G>A
ENST00000492226.2:n.1446G>A
ENST00000492773.6:c.933G>A
ENST00000647636.1:c.*28G>A	ENSP00000497505.1:n.*28G>A
ENST00000647909.1:c.1203G>A	ENSP00000498164.1:p.Gln401=
ENST00000648145.1:c.951G>A
ENST00000648189.1:c.997G>A
ENST00000648256.1:c.1151G>A	ENSP00000497356.1:n.1151G>A
ENST00000648314.1:c.*298G>A	ENSP00000496920.1:n.*298G>A
ENST00000648599.1:c.*462G>A	ENSP00000497159.1:n.*462G>A
ENST00000648630.1:c.1058G>A	ENSP00000497887.1:p.Arg353Lys
ENST00000648682.1:c.*19G>A	ENSP00000498185.1:n.*19G>A
ENST00000648882.1:c.*1005G>A	ENSP00000497603.1:n.*1005G>A
ENST00000648890.1:c.1179G>A	ENSP00000497503.1:p.Gln393=
ENST00000648915.2:c.1179G>A MANE Select	ENSP00000497160.1:p.Gln393=
ENST00000649545.1:c.600G>A
ENST00000649688.1:c.*472G>A	ENSP00000497097.1:n.*472G>A
ENST00000649814.1:n.1228G>A
ENST00000650270.1:c.1046G>A
ENST00000273783.7:c.1179G>A	ENSP00000273783.3:p.Gln393=
ENST00000432982.5:c.246-290G>A
ENST00000444495.1:c.1179G>A	ENSP00000409142.1:p.Gln393=
ENST00000479833.1:n.380G>A
ENST00000481054.5:n.1273G>A
ENST00000491144.5:n.1683G>A
ENST00000492773.5:n.62G>A
NM_003907.2:c.1179G>A	NP_003898.2:p.Gln393=
XM_011513265.1:c.429G>A	XP_011511567.1:p.Gln143=
XM_011513266.1:c.342G>A	XP_011511568.1:p.Gln114=
XR_924208.1:n.2130G>A
NM_003907.3:c.1179G>A MANE Select	NP_003898.2:p.Gln393=
XM_011513266.3:c.342G>A	XP_011511568.1:p.Gln114=
XR_001740352.2:n.1542G>A
XR_001740353.2:n.1542G>A
XR_924208.2:n.1542G>A