Canonical Allele Identifier: CA355384651

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858222T>C (hg19) ; chr3:g.184140434T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140434T>C , CM000665.2:g.184140434T>C	GRCh38
NC_000003.11:g.183858222T>C , CM000665.1:g.183858222T>C	GRCh37
NC_000003.10:g.185340916T>C	NCBI36
NG_015826.1:g.10413T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.883T>C
ENST00000468748.7:n.1103T>C
ENST00000484154.2:n.1387-1491T>C
ENST00000491008.6:n.1608T>C
ENST00000492226.2:n.1117T>C
ENST00000492773.6:c.614T>C
ENST00000647636.1:c.860T>C	ENSP00000497505.1:p.Ile287Thr
ENST00000647909.1:c.884T>C	ENSP00000498164.1:p.Ile295Thr
ENST00000648145.1:c.628T>C
ENST00000648189.1:c.674T>C
ENST00000648256.1:c.832T>C	ENSP00000497356.1:n.832T>C
ENST00000648314.1:c.924T>C	ENSP00000496920.1:p.Asp308=
ENST00000648599.1:c.*143T>C	ENSP00000497159.1:n.*143T>C
ENST00000648630.1:c.854T>C	ENSP00000497887.1:p.Ile285Thr
ENST00000648682.1:c.860T>C	ENSP00000498185.1:p.Ile287Thr
ENST00000648882.1:c.*686T>C	ENSP00000497603.1:n.*686T>C
ENST00000648890.1:c.860T>C	ENSP00000497503.1:p.Ile287Thr
ENST00000648915.2:c.860T>C MANE Select	ENSP00000497160.1:p.Ile287Thr
ENST00000649545.1:c.577+277T>C
ENST00000649688.1:c.*143T>C	ENSP00000497097.1:n.*143T>C
ENST00000649814.1:n.909T>C
ENST00000650270.1:c.727T>C
ENST00000273783.7:c.860T>C	ENSP00000273783.3:p.Ile287Thr
ENST00000432982.5:c.246-1803T>C
ENST00000444495.1:c.860T>C	ENSP00000409142.1:p.Ile287Thr
ENST00000468748.5:n.573T>C
ENST00000479833.1:n.176T>C
ENST00000481054.5:n.954T>C
ENST00000491144.5:n.1364T>C
ENST00000493740.1:n.90T>C
NM_003907.2:c.860T>C	NP_003898.2:p.Ile287Thr
XM_011513265.1:c.110T>C	XP_011511567.1:p.Ile37Thr
XM_011513266.1:c.23T>C	XP_011511568.1:p.Ile8Thr
XR_924208.1:n.1811T>C
NM_003907.3:c.860T>C MANE Select	NP_003898.2:p.Ile287Thr
XM_011513266.3:c.23T>C	XP_011511568.1:p.Ile8Thr
XR_001740352.2:n.1223T>C
XR_001740353.2:n.1223T>C
XR_924208.2:n.1223T>C