Canonical Allele Identifier: CA2697557004

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2747108
• ClinVar RCV Id: RCV003563367

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137883T>C , CM000665.2:g.184137883T>C	GRCh38
NC_000003.11:g.183855671T>C , CM000665.1:g.183855671T>C	GRCh37
NC_000003.10:g.185338365T>C	NCBI36
NG_015826.1:g.7862T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.530-15T>C
ENST00000468748.7:n.490-15T>C
ENST00000484154.2:n.1128-15T>C
ENST00000491008.6:n.1255-15T>C
ENST00000492226.2:n.504-15T>C
ENST00000492773.6:c.239-15T>C
ENST00000647636.1:c.507-15T>C	ENSP00000497505.1:n.507-15T>C
ENST00000647909.1:c.516T>C	ENSP00000498164.1:p.Pro172=
ENST00000648145.1:c.275-15T>C
ENST00000648189.1:c.257-15T>C
ENST00000648256.1:c.456-15T>C	ENSP00000497356.1:n.456-15T>C
ENST00000648314.1:c.507-15T>C	ENSP00000496920.1:n.507-15T>C
ENST00000648599.1:c.507-15T>C	ENSP00000497159.1:n.507-15T>C
ENST00000648630.1:c.501-15T>C	ENSP00000497887.1:n.501-15T>C
ENST00000648682.1:c.507-15T>C	ENSP00000498185.1:n.507-15T>C
ENST00000648882.1:c.*333-15T>C	ENSP00000497603.1:n.*333-15T>C
ENST00000648890.1:c.507-15T>C	ENSP00000497503.1:n.507-15T>C
ENST00000648915.2:c.507-15T>C MANE Select	ENSP00000497160.1:n.507-15T>C
ENST00000649545.1:c.241-15T>C
ENST00000649688.1:c.507-15T>C	ENSP00000497097.1:n.507-15T>C
ENST00000649814.1:n.556-15T>C
ENST00000650244.1:c.652-15T>C	ENSP00000497227.1:n.652-15T>C
ENST00000650270.1:c.374-15T>C
ENST00000273783.7:c.507-15T>C	ENSP00000273783.3:n.507-15T>C
ENST00000432982.5:c.245+1208T>C
ENST00000444495.1:c.507-15T>C	ENSP00000409142.1:n.507-15T>C
ENST00000481054.5:n.508-15T>C
ENST00000491008.5:n.471-15T>C
ENST00000491144.5:n.932T>C
ENST00000498831.1:n.462-15T>C
NM_003907.2:c.507-15T>C	NP_003898.2:n.507-15T>C
XR_924208.1:n.1458-15T>C
NM_003907.3:c.507-15T>C MANE Select	NP_003898.2:n.507-15T>C
XM_011513266.3:c.-395-15T>C	XP_011511568.1:n.-395-15T>C
XR_001740352.2:n.870-15T>C
XR_001740353.2:n.870-15T>C
XR_924208.2:n.870-15T>C