Canonical Allele Identifier: CA355384560

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713574419
• MyVariant Identifiers: chr3:g.183858208C>G (hg19) ; chr3:g.184140420C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.869C>G
ENST00000468748.7:n.1089C>G
ENST00000484154.2:n.1387-1505C>G
ENST00000491008.6:n.1594C>G
ENST00000492226.2:n.1103C>G
ENST00000492773.6:c.600C>G
ENST00000647636.1:c.846C>G	ENSP00000497505.1:p.Ile282Met
ENST00000647909.1:c.870C>G	ENSP00000498164.1:p.Ile290Met
ENST00000648145.1:c.614C>G
ENST00000648189.1:c.660C>G
ENST00000648256.1:c.818C>G	ENSP00000497356.1:n.818C>G
ENST00000648314.1:c.910C>G	ENSP00000496920.1:p.Pro304Ala
ENST00000648599.1:c.*129C>G	ENSP00000497159.1:n.*129C>G
ENST00000648630.1:c.840C>G	ENSP00000497887.1:p.Ile280Met
ENST00000648682.1:c.846C>G	ENSP00000498185.1:p.Ile282Met
ENST00000648882.1:c.*672C>G	ENSP00000497603.1:n.*672C>G
ENST00000648890.1:c.846C>G	ENSP00000497503.1:p.Ile282Met
ENST00000648915.2:c.846C>G MANE Select	ENSP00000497160.1:p.Ile282Met
ENST00000649545.1:c.577+263C>G
ENST00000649688.1:c.*129C>G	ENSP00000497097.1:n.*129C>G
ENST00000649814.1:n.895C>G
ENST00000650270.1:c.713C>G
ENST00000273783.7:c.846C>G	ENSP00000273783.3:p.Ile282Met
ENST00000432982.5:c.246-1817C>G
ENST00000444495.1:c.846C>G	ENSP00000409142.1:p.Ile282Met
ENST00000468748.5:n.559C>G
ENST00000479833.1:n.162C>G
ENST00000481054.5:n.940C>G
ENST00000491144.5:n.1350C>G
ENST00000493740.1:n.76C>G
NM_003907.2:c.846C>G	NP_003898.2:p.Ile282Met
XM_011513265.1:c.96C>G	XP_011511567.1:p.Ile32Met
XM_011513266.1:c.9C>G	XP_011511568.1:p.Ile3Met
XR_924208.1:n.1797C>G
NM_003907.3:c.846C>G MANE Select	NP_003898.2:p.Ile282Met
XM_011513266.3:c.9C>G	XP_011511568.1:p.Ile3Met
XR_001740352.2:n.1209C>G
XR_001740353.2:n.1209C>G
XR_924208.2:n.1209C>G