Canonical Allele Identifier: CA355382428

Gene: EIF2B5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.672A>T
ENST00000468748.7:n.632A>T
ENST00000484154.2:n.1270A>T
ENST00000491008.6:n.1397A>T
ENST00000492226.2:n.646A>T
ENST00000492773.6:c.381A>T
ENST00000647636.1:c.649A>T	ENSP00000497505.1:p.Lys217Ter
ENST00000647909.1:c.673A>T	ENSP00000498164.1:p.Lys225Ter
ENST00000648145.1:c.417A>T
ENST00000648189.1:c.399A>T
ENST00000648256.1:c.598A>T	ENSP00000497356.1:p.Lys200Ter
ENST00000648314.1:c.649A>T	ENSP00000496920.1:p.Lys217Ter
ENST00000648599.1:c.649A>T	ENSP00000497159.1:p.Lys217Ter
ENST00000648630.1:c.643A>T	ENSP00000497887.1:p.Lys215Ter
ENST00000648682.1:c.649A>T	ENSP00000498185.1:p.Lys217Ter
ENST00000648882.1:c.*475A>T	ENSP00000497603.1:n.*475A>T
ENST00000648890.1:c.649A>T	ENSP00000497503.1:p.Lys217Ter
ENST00000648915.2:c.649A>T MANE Select	ENSP00000497160.1:p.Lys217Ter
ENST00000649545.1:c.383A>T
ENST00000649688.1:c.649A>T	ENSP00000497097.1:p.Lys217Ter
ENST00000649814.1:n.698A>T
ENST00000650270.1:c.516A>T
ENST00000273783.7:c.649A>T	ENSP00000273783.3:p.Lys217Ter
ENST00000432982.5:c.245+1365A>T
ENST00000444495.1:c.649A>T	ENSP00000409142.1:p.Lys217Ter
ENST00000468748.5:n.102A>T
ENST00000481054.5:n.650A>T
ENST00000491008.5:n.613A>T
ENST00000491144.5:n.1089A>T
NM_003907.2:c.649A>T	NP_003898.2:p.Lys217Ter
XR_924208.1:n.1600A>T
NM_003907.3:c.649A>T MANE Select	NP_003898.2:p.Lys217Ter
XM_011513266.3:c.-253A>T	XP_011511568.1:n.-253A>T
XR_001740352.2:n.1012A>T
XR_001740353.2:n.1012A>T
XR_924208.2:n.1012A>T