Canonical Allele Identifier: CA355384604

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858216A>C (hg19) ; chr3:g.184140428A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140428A>C , CM000665.2:g.184140428A>C	GRCh38
NC_000003.11:g.183858216A>C , CM000665.1:g.183858216A>C	GRCh37
NC_000003.10:g.185340910A>C	NCBI36
NG_015826.1:g.10407A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.877A>C
ENST00000468748.7:n.1097A>C
ENST00000484154.2:n.1387-1497A>C
ENST00000491008.6:n.1602A>C
ENST00000492226.2:n.1111A>C
ENST00000492773.6:c.608A>C
ENST00000647636.1:c.854A>C	ENSP00000497505.1:p.Asn285Thr
ENST00000647909.1:c.878A>C	ENSP00000498164.1:p.Asn293Thr
ENST00000648145.1:c.622A>C
ENST00000648189.1:c.668A>C
ENST00000648256.1:c.826A>C	ENSP00000497356.1:n.826A>C
ENST00000648314.1:c.918A>C	ENSP00000496920.1:p.Glu306Asp
ENST00000648599.1:c.*137A>C	ENSP00000497159.1:n.*137A>C
ENST00000648630.1:c.848A>C	ENSP00000497887.1:p.Asn283Thr
ENST00000648682.1:c.854A>C	ENSP00000498185.1:p.Asn285Thr
ENST00000648882.1:c.*680A>C	ENSP00000497603.1:n.*680A>C
ENST00000648890.1:c.854A>C	ENSP00000497503.1:p.Asn285Thr
ENST00000648915.2:c.854A>C MANE Select	ENSP00000497160.1:p.Asn285Thr
ENST00000649545.1:c.577+271A>C
ENST00000649688.1:c.*137A>C	ENSP00000497097.1:n.*137A>C
ENST00000649814.1:n.903A>C
ENST00000650270.1:c.721A>C
ENST00000273783.7:c.854A>C	ENSP00000273783.3:p.Asn285Thr
ENST00000432982.5:c.246-1809A>C
ENST00000444495.1:c.854A>C	ENSP00000409142.1:p.Asn285Thr
ENST00000468748.5:n.567A>C
ENST00000479833.1:n.170A>C
ENST00000481054.5:n.948A>C
ENST00000491144.5:n.1358A>C
ENST00000493740.1:n.84A>C
NM_003907.2:c.854A>C	NP_003898.2:p.Asn285Thr
XM_011513265.1:c.104A>C	XP_011511567.1:p.Asn35Thr
XM_011513266.1:c.17A>C	XP_011511568.1:p.Asn6Thr
XR_924208.1:n.1805A>C
NM_003907.3:c.854A>C MANE Select	NP_003898.2:p.Asn285Thr
XM_011513266.3:c.17A>C	XP_011511568.1:p.Asn6Thr
XR_001740352.2:n.1217A>C
XR_001740353.2:n.1217A>C
XR_924208.2:n.1217A>C