Canonical Allele Identifier: CA355382023

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2736131
• ClinVar RCV Id: RCV003557829
• MyVariant Identifiers: chr3:g.183855557C>G (hg19) ; chr3:g.184137769C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137769C>G , CM000665.2:g.184137769C>G	GRCh38
NC_000003.11:g.183855557C>G , CM000665.1:g.183855557C>G	GRCh37
NC_000003.10:g.185338251C>G	NCBI36
NG_015826.1:g.7748C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.493C>G
ENST00000468748.7:n.453C>G
ENST00000484154.2:n.1091C>G
ENST00000491008.6:n.1218C>G
ENST00000492226.2:n.467C>G
ENST00000492773.6:c.202C>G
ENST00000647636.1:c.470C>G	ENSP00000497505.1:p.Ser157Ter
ENST00000647909.1:c.470C>G	ENSP00000498164.1:p.Ser157Ter
ENST00000648145.1:c.238C>G
ENST00000648189.1:c.220C>G
ENST00000648256.1:c.419C>G	ENSP00000497356.1:p.Ser140Ter
ENST00000648314.1:c.470C>G	ENSP00000496920.1:p.Ser157Ter
ENST00000648599.1:c.470C>G	ENSP00000497159.1:p.Ser157Ter
ENST00000648630.1:c.464C>G	ENSP00000497887.1:p.Ser155Ter
ENST00000648682.1:c.470C>G	ENSP00000498185.1:p.Ser157Ter
ENST00000648882.1:c.*296C>G	ENSP00000497603.1:n.*296C>G
ENST00000648890.1:c.470C>G	ENSP00000497503.1:p.Ser157Ter
ENST00000648915.2:c.470C>G MANE Select	ENSP00000497160.1:p.Ser157Ter
ENST00000649545.1:c.204C>G
ENST00000649688.1:c.470C>G	ENSP00000497097.1:p.Ser157Ter
ENST00000649814.1:n.519C>G
ENST00000650244.1:c.615C>G	ENSP00000497227.1:n.615C>G
ENST00000650270.1:c.337C>G
ENST00000273783.7:c.470C>G	ENSP00000273783.3:p.Ser157Ter
ENST00000432982.5:c.245+1094C>G
ENST00000444495.1:c.470C>G	ENSP00000409142.1:p.Ser157Ter
ENST00000481054.5:n.471C>G
ENST00000491008.5:n.434C>G
ENST00000491144.5:n.818C>G
ENST00000498831.1:n.425C>G
NM_003907.2:c.470C>G	NP_003898.2:p.Ser157Ter
XR_924208.1:n.1421C>G
NM_003907.3:c.470C>G MANE Select	NP_003898.2:p.Ser157Ter
XM_011513266.3:c.-432C>G	XP_011511568.1:n.-432C>G
XR_001740352.2:n.833C>G
XR_001740353.2:n.833C>G
XR_924208.2:n.833C>G