Canonical Allele Identifier: CA355381781

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855437T>G (hg19) ; chr3:g.184137649T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137649T>G , CM000665.2:g.184137649T>G	GRCh38
NC_000003.11:g.183855437T>G , CM000665.1:g.183855437T>G	GRCh37
NC_000003.10:g.185338131T>G	NCBI36
NG_015826.1:g.7628T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.373T>G
ENST00000468748.7:n.333T>G
ENST00000484154.2:n.971T>G
ENST00000491008.6:n.1098T>G
ENST00000492226.2:n.347T>G
ENST00000492773.6:c.82T>G
ENST00000647636.1:c.350T>G	ENSP00000497505.1:p.Leu117Arg
ENST00000647909.1:c.350T>G	ENSP00000498164.1:p.Leu117Arg
ENST00000648145.1:c.118T>G
ENST00000648189.1:c.100T>G
ENST00000648256.1:c.299T>G	ENSP00000497356.1:p.Leu100Arg
ENST00000648314.1:c.350T>G	ENSP00000496920.1:p.Leu117Arg
ENST00000648599.1:c.350T>G	ENSP00000497159.1:p.Leu117Arg
ENST00000648630.1:c.344T>G	ENSP00000497887.1:p.Leu115Arg
ENST00000648682.1:c.350T>G	ENSP00000498185.1:p.Leu117Arg
ENST00000648882.1:c.*176T>G	ENSP00000497603.1:n.*176T>G
ENST00000648890.1:c.350T>G	ENSP00000497503.1:p.Leu117Arg
ENST00000648915.2:c.350T>G MANE Select	ENSP00000497160.1:p.Leu117Arg
ENST00000649545.1:c.84T>G
ENST00000649688.1:c.350T>G	ENSP00000497097.1:p.Leu117Arg
ENST00000649814.1:n.399T>G
ENST00000650244.1:c.495T>G	ENSP00000497227.1:n.495T>G
ENST00000650270.1:c.217T>G
ENST00000273783.7:c.350T>G	ENSP00000273783.3:p.Leu117Arg
ENST00000432982.5:c.245+974T>G
ENST00000444495.1:c.350T>G	ENSP00000409142.1:p.Leu117Arg
ENST00000481054.5:n.351T>G
ENST00000491008.5:n.314T>G
ENST00000491144.5:n.698T>G
ENST00000498831.1:n.305T>G
NM_003907.2:c.350T>G	NP_003898.2:p.Leu117Arg
XR_924208.1:n.1301T>G
NM_003907.3:c.350T>G MANE Select	NP_003898.2:p.Leu117Arg
XM_011513266.3:c.-552T>G	XP_011511568.1:n.-552T>G
XR_001740352.2:n.713T>G
XR_001740353.2:n.713T>G
XR_924208.2:n.713T>G