Canonical Allele Identifier: CA2580070484

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2119218
• ClinVar RCV Id: RCV003054547

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138162A>C , CM000665.2:g.184138162A>C	GRCh38
NC_000003.11:g.183855950A>C , CM000665.1:g.183855950A>C	GRCh37
NC_000003.10:g.185338644A>C	NCBI36
NG_015826.1:g.8141A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.708-4A>C
ENST00000468748.7:n.668-4A>C
ENST00000484154.2:n.1306-4A>C
ENST00000491008.6:n.1433-4A>C
ENST00000492226.2:n.682-4A>C
ENST00000492773.6:c.435A>C
ENST00000647636.1:c.685-4A>C	ENSP00000497505.1:n.685-4A>C
ENST00000647909.1:c.709-4A>C	ENSP00000498164.1:n.709-4A>C
ENST00000648145.1:c.453-4A>C
ENST00000648189.1:c.435-4A>C
ENST00000648256.1:c.634-4A>C	ENSP00000497356.1:n.634-4A>C
ENST00000648314.1:c.685-4A>C	ENSP00000496920.1:n.685-4A>C
ENST00000648599.1:c.685-4A>C	ENSP00000497159.1:n.685-4A>C
ENST00000648630.1:c.679-4A>C	ENSP00000497887.1:n.679-4A>C
ENST00000648682.1:c.685-4A>C	ENSP00000498185.1:n.685-4A>C
ENST00000648882.1:c.*511-4A>C	ENSP00000497603.1:n.*511-4A>C
ENST00000648890.1:c.685-4A>C	ENSP00000497503.1:n.685-4A>C
ENST00000648915.2:c.685-4A>C MANE Select	ENSP00000497160.1:n.685-4A>C
ENST00000649545.1:c.419-4A>C
ENST00000649688.1:c.685-4A>C	ENSP00000497097.1:n.685-4A>C
ENST00000649814.1:n.734-4A>C
ENST00000650270.1:c.552-4A>C
ENST00000273783.7:c.685-4A>C	ENSP00000273783.3:n.685-4A>C
ENST00000432982.5:c.245+1487A>C
ENST00000444495.1:c.685-4A>C	ENSP00000409142.1:n.685-4A>C
ENST00000468748.5:n.138-4A>C
ENST00000481054.5:n.686-4A>C
ENST00000491008.5:n.649-4A>C
ENST00000491144.5:n.1125-4A>C
NM_003907.2:c.685-4A>C	NP_003898.2:n.685-4A>C
XR_924208.1:n.1636-4A>C
NM_003907.3:c.685-4A>C MANE Select	NP_003898.2:n.685-4A>C
XM_011513266.3:c.-217-4A>C	XP_011511568.1:n.-217-4A>C
XR_001740352.2:n.1048-4A>C
XR_001740353.2:n.1048-4A>C
XR_924208.2:n.1048-4A>C