Canonical Allele Identifier: CA355383402

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857896A>C (hg19) ; chr3:g.184140108A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140108A>C , CM000665.2:g.184140108A>C	GRCh38
NC_000003.11:g.183857896A>C , CM000665.1:g.183857896A>C	GRCh37
NC_000003.10:g.185340590A>C	NCBI36
NG_015826.1:g.10087A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.817A>C
ENST00000468748.7:n.777A>C
ENST00000484154.2:n.1387-1817A>C
ENST00000491008.6:n.1542A>C
ENST00000492226.2:n.791A>C
ENST00000492773.6:c.548A>C
ENST00000647636.1:c.794A>C	ENSP00000497505.1:p.Asp265Ala
ENST00000647909.1:c.818A>C	ENSP00000498164.1:p.Asp273Ala
ENST00000648145.1:c.562A>C
ENST00000648189.1:c.544A>C
ENST00000648256.1:c.766A>C	ENSP00000497356.1:p.Thr256Pro
ENST00000648314.1:c.794A>C	ENSP00000496920.1:p.Asp265Ala
ENST00000648599.1:c.*77A>C	ENSP00000497159.1:n.*77A>C
ENST00000648630.1:c.788A>C	ENSP00000497887.1:p.Asp263Ala
ENST00000648682.1:c.794A>C	ENSP00000498185.1:p.Asp265Ala
ENST00000648882.1:c.*620A>C	ENSP00000497603.1:n.*620A>C
ENST00000648890.1:c.794A>C	ENSP00000497503.1:p.Asp265Ala
ENST00000648915.2:c.794A>C MANE Select	ENSP00000497160.1:p.Asp265Ala
ENST00000649545.1:c.528A>C
ENST00000649688.1:c.*77A>C	ENSP00000497097.1:n.*77A>C
ENST00000649814.1:n.843A>C
ENST00000650270.1:c.661A>C
ENST00000273783.7:c.794A>C	ENSP00000273783.3:p.Asp265Ala
ENST00000432982.5:c.246-2129A>C
ENST00000444495.1:c.794A>C	ENSP00000409142.1:p.Asp265Ala
ENST00000468748.5:n.247A>C
ENST00000479833.1:n.110A>C
ENST00000481054.5:n.888A>C
ENST00000491008.5:n.758A>C
ENST00000491144.5:n.1234A>C
NM_003907.2:c.794A>C	NP_003898.2:p.Asp265Ala
XM_011513265.1:c.44A>C	XP_011511567.1:p.Asp15Ala
XR_924208.1:n.1745A>C
NM_003907.3:c.794A>C MANE Select	NP_003898.2:p.Asp265Ala
XM_011513266.3:c.-108A>C	XP_011511568.1:n.-108A>C
XR_001740352.2:n.1157A>C
XR_001740353.2:n.1157A>C
XR_924208.2:n.1157A>C