Canonical Allele Identifier: CA355385109

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858288T>G (hg19) ; chr3:g.184140500T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140500T>G , CM000665.2:g.184140500T>G	GRCh38
NC_000003.11:g.183858288T>G , CM000665.1:g.183858288T>G	GRCh37
NC_000003.10:g.185340982T>G	NCBI36
NG_015826.1:g.10479T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.949T>G
ENST00000468748.7:n.1169T>G
ENST00000484154.2:n.1387-1425T>G
ENST00000491008.6:n.1674T>G
ENST00000492226.2:n.1183T>G
ENST00000492773.6:c.680T>G
ENST00000647636.1:c.926T>G	ENSP00000497505.1:p.Val309Gly
ENST00000647909.1:c.950T>G	ENSP00000498164.1:p.Val317Gly
ENST00000648145.1:c.694T>G
ENST00000648189.1:c.740T>G
ENST00000648256.1:c.898T>G	ENSP00000497356.1:n.898T>G
ENST00000648314.1:c.*45T>G	ENSP00000496920.1:n.*45T>G
ENST00000648599.1:c.*209T>G	ENSP00000497159.1:n.*209T>G
ENST00000648630.1:c.920T>G	ENSP00000497887.1:p.Val307Gly
ENST00000648682.1:c.926T>G	ENSP00000498185.1:p.Val309Gly
ENST00000648882.1:c.*752T>G	ENSP00000497603.1:n.*752T>G
ENST00000648890.1:c.926T>G	ENSP00000497503.1:p.Val309Gly
ENST00000648915.2:c.926T>G MANE Select	ENSP00000497160.1:p.Val309Gly
ENST00000649545.1:c.577+343T>G
ENST00000649688.1:c.*209T>G	ENSP00000497097.1:n.*209T>G
ENST00000649814.1:n.975T>G
ENST00000650270.1:c.793T>G
ENST00000273783.7:c.926T>G	ENSP00000273783.3:p.Val309Gly
ENST00000432982.5:c.246-1737T>G
ENST00000444495.1:c.926T>G	ENSP00000409142.1:p.Val309Gly
ENST00000468748.5:n.639T>G
ENST00000479833.1:n.242T>G
ENST00000481054.5:n.1020T>G
ENST00000491144.5:n.1430T>G
ENST00000493740.1:n.156T>G
NM_003907.2:c.926T>G	NP_003898.2:p.Val309Gly
XM_011513265.1:c.176T>G	XP_011511567.1:p.Val59Gly
XM_011513266.1:c.89T>G	XP_011511568.1:p.Val30Gly
XR_924208.1:n.1877T>G
NM_003907.3:c.926T>G MANE Select	NP_003898.2:p.Val309Gly
XM_011513266.3:c.89T>G	XP_011511568.1:p.Val30Gly
XR_001740352.2:n.1289T>G
XR_001740353.2:n.1289T>G
XR_924208.2:n.1289T>G