Canonical Allele Identifier: CA355382426

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855828A>C (hg19) ; chr3:g.184138040A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138040A>C , CM000665.2:g.184138040A>C	GRCh38
NC_000003.11:g.183855828A>C , CM000665.1:g.183855828A>C	GRCh37
NC_000003.10:g.185338522A>C	NCBI36
NG_015826.1:g.8019A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.672A>C
ENST00000468748.7:n.632A>C
ENST00000484154.2:n.1270A>C
ENST00000491008.6:n.1397A>C
ENST00000492226.2:n.646A>C
ENST00000492773.6:c.381A>C
ENST00000647636.1:c.649A>C	ENSP00000497505.1:p.Lys217Gln
ENST00000647909.1:c.673A>C	ENSP00000498164.1:p.Lys225Gln
ENST00000648145.1:c.417A>C
ENST00000648189.1:c.399A>C
ENST00000648256.1:c.598A>C	ENSP00000497356.1:p.Lys200Gln
ENST00000648314.1:c.649A>C	ENSP00000496920.1:p.Lys217Gln
ENST00000648599.1:c.649A>C	ENSP00000497159.1:p.Lys217Gln
ENST00000648630.1:c.643A>C	ENSP00000497887.1:p.Lys215Gln
ENST00000648682.1:c.649A>C	ENSP00000498185.1:p.Lys217Gln
ENST00000648882.1:c.*475A>C	ENSP00000497603.1:n.*475A>C
ENST00000648890.1:c.649A>C	ENSP00000497503.1:p.Lys217Gln
ENST00000648915.2:c.649A>C MANE Select	ENSP00000497160.1:p.Lys217Gln
ENST00000649545.1:c.383A>C
ENST00000649688.1:c.649A>C	ENSP00000497097.1:p.Lys217Gln
ENST00000649814.1:n.698A>C
ENST00000650270.1:c.516A>C
ENST00000273783.7:c.649A>C	ENSP00000273783.3:p.Lys217Gln
ENST00000432982.5:c.245+1365A>C
ENST00000444495.1:c.649A>C	ENSP00000409142.1:p.Lys217Gln
ENST00000468748.5:n.102A>C
ENST00000481054.5:n.650A>C
ENST00000491008.5:n.613A>C
ENST00000491144.5:n.1089A>C
NM_003907.2:c.649A>C	NP_003898.2:p.Lys217Gln
XR_924208.1:n.1600A>C
NM_003907.3:c.649A>C MANE Select	NP_003898.2:p.Lys217Gln
XM_011513266.3:c.-253A>C	XP_011511568.1:n.-253A>C
XR_001740352.2:n.1012A>C
XR_001740353.2:n.1012A>C
XR_924208.2:n.1012A>C