Canonical Allele Identifier: CA437323749

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858214G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140426G>A , CM000665.2:g.184140426G>A	GRCh38
NC_000003.11:g.183858214G>A , CM000665.1:g.183858214G>A	GRCh37
NC_000003.10:g.185340908G>A	NCBI36
NG_015826.1:g.10405G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.875G>A
ENST00000468748.7:n.1095G>A
ENST00000484154.2:n.1387-1499G>A
ENST00000491008.6:n.1600G>A
ENST00000492226.2:n.1109G>A
ENST00000492773.6:c.606G>A
ENST00000647636.1:c.852G>A	ENSP00000497505.1:p.Gly284=
ENST00000647909.1:c.876G>A	ENSP00000498164.1:p.Gly292=
ENST00000648145.1:c.620G>A
ENST00000648189.1:c.666G>A
ENST00000648256.1:c.824G>A	ENSP00000497356.1:n.824G>A
ENST00000648314.1:c.916G>A	ENSP00000496920.1:p.Glu306Lys
ENST00000648599.1:c.*135G>A	ENSP00000497159.1:n.*135G>A
ENST00000648630.1:c.846G>A	ENSP00000497887.1:p.Gly282=
ENST00000648682.1:c.852G>A	ENSP00000498185.1:p.Gly284=
ENST00000648882.1:c.*678G>A	ENSP00000497603.1:n.*678G>A
ENST00000648890.1:c.852G>A	ENSP00000497503.1:p.Gly284=
ENST00000648915.2:c.852G>A MANE Select	ENSP00000497160.1:p.Gly284=
ENST00000649545.1:c.577+269G>A
ENST00000649688.1:c.*135G>A	ENSP00000497097.1:n.*135G>A
ENST00000649814.1:n.901G>A
ENST00000650270.1:c.719G>A
ENST00000273783.7:c.852G>A	ENSP00000273783.3:p.Gly284=
ENST00000432982.5:c.246-1811G>A
ENST00000444495.1:c.852G>A	ENSP00000409142.1:p.Gly284=
ENST00000468748.5:n.565G>A
ENST00000479833.1:n.168G>A
ENST00000481054.5:n.946G>A
ENST00000491144.5:n.1356G>A
ENST00000493740.1:n.82G>A
NM_003907.2:c.852G>A	NP_003898.2:p.Gly284=
XM_011513265.1:c.102G>A	XP_011511567.1:p.Gly34=
XM_011513266.1:c.15G>A	XP_011511568.1:p.Gly5=
XR_924208.1:n.1803G>A
NM_003907.3:c.852G>A MANE Select	NP_003898.2:p.Gly284=
XM_011513266.3:c.15G>A	XP_011511568.1:p.Gly5=
XR_001740352.2:n.1215G>A
XR_001740353.2:n.1215G>A
XR_924208.2:n.1215G>A