Canonical Allele Identifier: CA355382301

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855769A>T (hg19) ; chr3:g.184137981A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137981A>T , CM000665.2:g.184137981A>T	GRCh38
NC_000003.11:g.183855769A>T , CM000665.1:g.183855769A>T	GRCh37
NC_000003.10:g.185338463A>T	NCBI36
NG_015826.1:g.7960A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.613A>T
ENST00000468748.7:n.573A>T
ENST00000484154.2:n.1211A>T
ENST00000491008.6:n.1338A>T
ENST00000492226.2:n.587A>T
ENST00000492773.6:c.322A>T
ENST00000647636.1:c.590A>T	ENSP00000497505.1:p.His197Leu
ENST00000647909.1:c.614A>T	ENSP00000498164.1:p.His205Leu
ENST00000648145.1:c.358A>T
ENST00000648189.1:c.340A>T
ENST00000648256.1:c.539A>T	ENSP00000497356.1:p.His180Leu
ENST00000648314.1:c.590A>T	ENSP00000496920.1:p.His197Leu
ENST00000648599.1:c.590A>T	ENSP00000497159.1:p.His197Leu
ENST00000648630.1:c.584A>T	ENSP00000497887.1:p.His195Leu
ENST00000648682.1:c.590A>T	ENSP00000498185.1:p.His197Leu
ENST00000648882.1:c.*416A>T	ENSP00000497603.1:n.*416A>T
ENST00000648890.1:c.590A>T	ENSP00000497503.1:p.His197Leu
ENST00000648915.2:c.590A>T MANE Select	ENSP00000497160.1:p.His197Leu
ENST00000649545.1:c.324A>T
ENST00000649688.1:c.590A>T	ENSP00000497097.1:p.His197Leu
ENST00000649814.1:n.639A>T
ENST00000650270.1:c.457A>T
ENST00000273783.7:c.590A>T	ENSP00000273783.3:p.His197Leu
ENST00000432982.5:c.245+1306A>T
ENST00000444495.1:c.590A>T	ENSP00000409142.1:p.His197Leu
ENST00000468748.5:n.43A>T
ENST00000481054.5:n.591A>T
ENST00000491008.5:n.554A>T
ENST00000491144.5:n.1030A>T
ENST00000498831.1:n.545A>T
NM_003907.2:c.590A>T	NP_003898.2:p.His197Leu
XR_924208.1:n.1541A>T
NM_003907.3:c.590A>T MANE Select	NP_003898.2:p.His197Leu
XM_011513266.3:c.-312A>T	XP_011511568.1:n.-312A>T
XR_001740352.2:n.953A>T
XR_001740353.2:n.953A>T
XR_924208.2:n.953A>T