Canonical Allele Identifier: CA355384558

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858207T>G (hg19) ; chr3:g.184140419T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140419T>G , CM000665.2:g.184140419T>G	GRCh38
NC_000003.11:g.183858207T>G , CM000665.1:g.183858207T>G	GRCh37
NC_000003.10:g.185340901T>G	NCBI36
NG_015826.1:g.10398T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.868T>G
ENST00000468748.7:n.1088T>G
ENST00000484154.2:n.1387-1506T>G
ENST00000491008.6:n.1593T>G
ENST00000492226.2:n.1102T>G
ENST00000492773.6:c.599T>G
ENST00000647636.1:c.845T>G	ENSP00000497505.1:p.Ile282Ser
ENST00000647909.1:c.869T>G	ENSP00000498164.1:p.Ile290Ser
ENST00000648145.1:c.613T>G
ENST00000648189.1:c.659T>G
ENST00000648256.1:c.817T>G	ENSP00000497356.1:n.817T>G
ENST00000648314.1:c.909T>G	ENSP00000496920.1:p.Asp303Glu
ENST00000648599.1:c.*128T>G	ENSP00000497159.1:n.*128T>G
ENST00000648630.1:c.839T>G	ENSP00000497887.1:p.Ile280Ser
ENST00000648682.1:c.845T>G	ENSP00000498185.1:p.Ile282Ser
ENST00000648882.1:c.*671T>G	ENSP00000497603.1:n.*671T>G
ENST00000648890.1:c.845T>G	ENSP00000497503.1:p.Ile282Ser
ENST00000648915.2:c.845T>G MANE Select	ENSP00000497160.1:p.Ile282Ser
ENST00000649545.1:c.577+262T>G
ENST00000649688.1:c.*128T>G	ENSP00000497097.1:n.*128T>G
ENST00000649814.1:n.894T>G
ENST00000650270.1:c.712T>G
ENST00000273783.7:c.845T>G	ENSP00000273783.3:p.Ile282Ser
ENST00000432982.5:c.246-1818T>G
ENST00000444495.1:c.845T>G	ENSP00000409142.1:p.Ile282Ser
ENST00000468748.5:n.558T>G
ENST00000479833.1:n.161T>G
ENST00000481054.5:n.939T>G
ENST00000491144.5:n.1349T>G
ENST00000493740.1:n.75T>G
NM_003907.2:c.845T>G	NP_003898.2:p.Ile282Ser
XM_011513265.1:c.95T>G	XP_011511567.1:p.Ile32Ser
XM_011513266.1:c.8T>G	XP_011511568.1:p.Ile3Ser
XR_924208.1:n.1796T>G
NM_003907.3:c.845T>G MANE Select	NP_003898.2:p.Ile282Ser
XM_011513266.3:c.8T>G	XP_011511568.1:p.Ile3Ser
XR_001740352.2:n.1208T>G
XR_001740353.2:n.1208T>G
XR_924208.2:n.1208T>G