Canonical Allele Identifier: CA355384797

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858242A>C (hg19) ; chr3:g.184140454A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140454A>C , CM000665.2:g.184140454A>C	GRCh38
NC_000003.11:g.183858242A>C , CM000665.1:g.183858242A>C	GRCh37
NC_000003.10:g.185340936A>C	NCBI36
NG_015826.1:g.10433A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.903A>C
ENST00000468748.7:n.1123A>C
ENST00000484154.2:n.1387-1471A>C
ENST00000491008.6:n.1628A>C
ENST00000492226.2:n.1137A>C
ENST00000492773.6:c.634A>C
ENST00000647636.1:c.880A>C	ENSP00000497505.1:p.Lys294Gln
ENST00000647909.1:c.904A>C	ENSP00000498164.1:p.Lys302Gln
ENST00000648145.1:c.648A>C
ENST00000648189.1:c.694A>C
ENST00000648256.1:c.852A>C	ENSP00000497356.1:n.852A>C
ENST00000648314.1:c.944A>C	ENSP00000496920.1:p.Ter315Ser
ENST00000648599.1:c.*163A>C	ENSP00000497159.1:n.*163A>C
ENST00000648630.1:c.874A>C	ENSP00000497887.1:p.Lys292Gln
ENST00000648682.1:c.880A>C	ENSP00000498185.1:p.Lys294Gln
ENST00000648882.1:c.*706A>C	ENSP00000497603.1:n.*706A>C
ENST00000648890.1:c.880A>C	ENSP00000497503.1:p.Lys294Gln
ENST00000648915.2:c.880A>C MANE Select	ENSP00000497160.1:p.Lys294Gln
ENST00000649545.1:c.577+297A>C
ENST00000649688.1:c.*163A>C	ENSP00000497097.1:n.*163A>C
ENST00000649814.1:n.929A>C
ENST00000650270.1:c.747A>C
ENST00000273783.7:c.880A>C	ENSP00000273783.3:p.Lys294Gln
ENST00000432982.5:c.246-1783A>C
ENST00000444495.1:c.880A>C	ENSP00000409142.1:p.Lys294Gln
ENST00000468748.5:n.593A>C
ENST00000479833.1:n.196A>C
ENST00000481054.5:n.974A>C
ENST00000491144.5:n.1384A>C
ENST00000493740.1:n.110A>C
NM_003907.2:c.880A>C	NP_003898.2:p.Lys294Gln
XM_011513265.1:c.130A>C	XP_011511567.1:p.Lys44Gln
XM_011513266.1:c.43A>C	XP_011511568.1:p.Lys15Gln
XR_924208.1:n.1831A>C
NM_003907.3:c.880A>C MANE Select	NP_003898.2:p.Lys294Gln
XM_011513266.3:c.43A>C	XP_011511568.1:p.Lys15Gln
XR_001740352.2:n.1243A>C
XR_001740353.2:n.1243A>C
XR_924208.2:n.1243A>C