Canonical Allele Identifier: CA437323743

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2014925
• ClinVar RCV Id: RCV002861726
• MyVariant Identifiers: chr3:g.183858208C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140420C>A , CM000665.2:g.184140420C>A	GRCh38
NC_000003.11:g.183858208C>A , CM000665.1:g.183858208C>A	GRCh37
NC_000003.10:g.185340902C>A	NCBI36
NG_015826.1:g.10399C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.869C>A
ENST00000468748.7:n.1089C>A
ENST00000484154.2:n.1387-1505C>A
ENST00000491008.6:n.1594C>A
ENST00000492226.2:n.1103C>A
ENST00000492773.6:c.600C>A
ENST00000647636.1:c.846C>A	ENSP00000497505.1:p.Ile282=
ENST00000647909.1:c.870C>A	ENSP00000498164.1:p.Ile290=
ENST00000648145.1:c.614C>A
ENST00000648189.1:c.660C>A
ENST00000648256.1:c.818C>A	ENSP00000497356.1:n.818C>A
ENST00000648314.1:c.910C>A	ENSP00000496920.1:p.Pro304Thr
ENST00000648599.1:c.*129C>A	ENSP00000497159.1:n.*129C>A
ENST00000648630.1:c.840C>A	ENSP00000497887.1:p.Ile280=
ENST00000648682.1:c.846C>A	ENSP00000498185.1:p.Ile282=
ENST00000648882.1:c.*672C>A	ENSP00000497603.1:n.*672C>A
ENST00000648890.1:c.846C>A	ENSP00000497503.1:p.Ile282=
ENST00000648915.2:c.846C>A MANE Select	ENSP00000497160.1:p.Ile282=
ENST00000649545.1:c.577+263C>A
ENST00000649688.1:c.*129C>A	ENSP00000497097.1:n.*129C>A
ENST00000649814.1:n.895C>A
ENST00000650270.1:c.713C>A
ENST00000273783.7:c.846C>A	ENSP00000273783.3:p.Ile282=
ENST00000432982.5:c.246-1817C>A
ENST00000444495.1:c.846C>A	ENSP00000409142.1:p.Ile282=
ENST00000468748.5:n.559C>A
ENST00000479833.1:n.162C>A
ENST00000481054.5:n.940C>A
ENST00000491144.5:n.1350C>A
ENST00000493740.1:n.76C>A
NM_003907.2:c.846C>A	NP_003898.2:p.Ile282=
XM_011513265.1:c.96C>A	XP_011511567.1:p.Ile32=
XM_011513266.1:c.9C>A	XP_011511568.1:p.Ile3=
XR_924208.1:n.1797C>A
NM_003907.3:c.846C>A MANE Select	NP_003898.2:p.Ile282=
XM_011513266.3:c.9C>A	XP_011511568.1:p.Ile3=
XR_001740352.2:n.1209C>A
XR_001740353.2:n.1209C>A
XR_924208.2:n.1209C>A