Canonical Allele Identifier: CA355382307

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1439106289
• gnomAD v2: 3-183855772-A-G
• gnomAD v4: 3-184137984-A-G
• MyVariant Identifiers: chr3:g.183855772A>G (hg19) ; chr3:g.184137984A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137984A>G , CM000665.2:g.184137984A>G	GRCh38
NC_000003.11:g.183855772A>G , CM000665.1:g.183855772A>G	GRCh37
NC_000003.10:g.185338466A>G	NCBI36
NG_015826.1:g.7963A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.616A>G
ENST00000468748.7:n.576A>G
ENST00000484154.2:n.1214A>G
ENST00000491008.6:n.1341A>G
ENST00000492226.2:n.590A>G
ENST00000492773.6:c.325A>G
ENST00000647636.1:c.593A>G	ENSP00000497505.1:p.Glu198Gly
ENST00000647909.1:c.617A>G	ENSP00000498164.1:p.Glu206Gly
ENST00000648145.1:c.361A>G
ENST00000648189.1:c.343A>G
ENST00000648256.1:c.542A>G	ENSP00000497356.1:p.Glu181Gly
ENST00000648314.1:c.593A>G	ENSP00000496920.1:p.Glu198Gly
ENST00000648599.1:c.593A>G	ENSP00000497159.1:p.Glu198Gly
ENST00000648630.1:c.587A>G	ENSP00000497887.1:p.Glu196Gly
ENST00000648682.1:c.593A>G	ENSP00000498185.1:p.Glu198Gly
ENST00000648882.1:c.*419A>G	ENSP00000497603.1:n.*419A>G
ENST00000648890.1:c.593A>G	ENSP00000497503.1:p.Glu198Gly
ENST00000648915.2:c.593A>G MANE Select	ENSP00000497160.1:p.Glu198Gly
ENST00000649545.1:c.327A>G
ENST00000649688.1:c.593A>G	ENSP00000497097.1:p.Glu198Gly
ENST00000649814.1:n.642A>G
ENST00000650270.1:c.460A>G
ENST00000273783.7:c.593A>G	ENSP00000273783.3:p.Glu198Gly
ENST00000432982.5:c.245+1309A>G
ENST00000444495.1:c.593A>G	ENSP00000409142.1:p.Glu198Gly
ENST00000468748.5:n.46A>G
ENST00000481054.5:n.594A>G
ENST00000491008.5:n.557A>G
ENST00000491144.5:n.1033A>G
ENST00000498831.1:n.548A>G
NM_003907.2:c.593A>G	NP_003898.2:p.Glu198Gly
XR_924208.1:n.1544A>G
NM_003907.3:c.593A>G MANE Select	NP_003898.2:p.Glu198Gly
XM_011513266.3:c.-309A>G	XP_011511568.1:n.-309A>G
XR_001740352.2:n.956A>G
XR_001740353.2:n.956A>G
XR_924208.2:n.956A>G