Canonical Allele Identifier: CA355384637

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858219A>C (hg19) ; chr3:g.184140431A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140431A>C , CM000665.2:g.184140431A>C	GRCh38
NC_000003.11:g.183858219A>C , CM000665.1:g.183858219A>C	GRCh37
NC_000003.10:g.185340913A>C	NCBI36
NG_015826.1:g.10410A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.880A>C
ENST00000468748.7:n.1100A>C
ENST00000484154.2:n.1387-1494A>C
ENST00000491008.6:n.1605A>C
ENST00000492226.2:n.1114A>C
ENST00000492773.6:c.611A>C
ENST00000647636.1:c.857A>C	ENSP00000497505.1:p.Gln286Pro
ENST00000647909.1:c.881A>C	ENSP00000498164.1:p.Gln294Pro
ENST00000648145.1:c.625A>C
ENST00000648189.1:c.671A>C
ENST00000648256.1:c.829A>C	ENSP00000497356.1:n.829A>C
ENST00000648314.1:c.921A>C	ENSP00000496920.1:p.Pro307=
ENST00000648599.1:c.*140A>C	ENSP00000497159.1:n.*140A>C
ENST00000648630.1:c.851A>C	ENSP00000497887.1:p.Gln284Pro
ENST00000648682.1:c.857A>C	ENSP00000498185.1:p.Gln286Pro
ENST00000648882.1:c.*683A>C	ENSP00000497603.1:n.*683A>C
ENST00000648890.1:c.857A>C	ENSP00000497503.1:p.Gln286Pro
ENST00000648915.2:c.857A>C MANE Select	ENSP00000497160.1:p.Gln286Pro
ENST00000649545.1:c.577+274A>C
ENST00000649688.1:c.*140A>C	ENSP00000497097.1:n.*140A>C
ENST00000649814.1:n.906A>C
ENST00000650270.1:c.724A>C
ENST00000273783.7:c.857A>C	ENSP00000273783.3:p.Gln286Pro
ENST00000432982.5:c.246-1806A>C
ENST00000444495.1:c.857A>C	ENSP00000409142.1:p.Gln286Pro
ENST00000468748.5:n.570A>C
ENST00000479833.1:n.173A>C
ENST00000481054.5:n.951A>C
ENST00000491144.5:n.1361A>C
ENST00000493740.1:n.87A>C
NM_003907.2:c.857A>C	NP_003898.2:p.Gln286Pro
XM_011513265.1:c.107A>C	XP_011511567.1:p.Gln36Pro
XM_011513266.1:c.20A>C	XP_011511568.1:p.Gln7Pro
XR_924208.1:n.1808A>C
NM_003907.3:c.857A>C MANE Select	NP_003898.2:p.Gln286Pro
XM_011513266.3:c.20A>C	XP_011511568.1:p.Gln7Pro
XR_001740352.2:n.1220A>C
XR_001740353.2:n.1220A>C
XR_924208.2:n.1220A>C