Canonical Allele Identifier: CA355382439

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855832C>T (hg19) ; chr3:g.184138044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138044C>T , CM000665.2:g.184138044C>T	GRCh38
NC_000003.11:g.183855832C>T , CM000665.1:g.183855832C>T	GRCh37
NC_000003.10:g.185338526C>T	NCBI36
NG_015826.1:g.8023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.676C>T
ENST00000468748.7:n.636C>T
ENST00000484154.2:n.1274C>T
ENST00000491008.6:n.1401C>T
ENST00000492226.2:n.650C>T
ENST00000492773.6:c.385C>T
ENST00000647636.1:c.653C>T	ENSP00000497505.1:p.Thr218Ile
ENST00000647909.1:c.677C>T	ENSP00000498164.1:p.Thr226Ile
ENST00000648145.1:c.421C>T
ENST00000648189.1:c.403C>T
ENST00000648256.1:c.602C>T	ENSP00000497356.1:p.Thr201Ile
ENST00000648314.1:c.653C>T	ENSP00000496920.1:p.Thr218Ile
ENST00000648599.1:c.653C>T	ENSP00000497159.1:p.Thr218Ile
ENST00000648630.1:c.647C>T	ENSP00000497887.1:p.Thr216Ile
ENST00000648682.1:c.653C>T	ENSP00000498185.1:p.Thr218Ile
ENST00000648882.1:c.*479C>T	ENSP00000497603.1:n.*479C>T
ENST00000648890.1:c.653C>T	ENSP00000497503.1:p.Thr218Ile
ENST00000648915.2:c.653C>T MANE Select	ENSP00000497160.1:p.Thr218Ile
ENST00000649545.1:c.387C>T
ENST00000649688.1:c.653C>T	ENSP00000497097.1:p.Thr218Ile
ENST00000649814.1:n.702C>T
ENST00000650270.1:c.520C>T
ENST00000273783.7:c.653C>T	ENSP00000273783.3:p.Thr218Ile
ENST00000432982.5:c.245+1369C>T
ENST00000444495.1:c.653C>T	ENSP00000409142.1:p.Thr218Ile
ENST00000468748.5:n.106C>T
ENST00000481054.5:n.654C>T
ENST00000491008.5:n.617C>T
ENST00000491144.5:n.1093C>T
NM_003907.2:c.653C>T	NP_003898.2:p.Thr218Ile
XR_924208.1:n.1604C>T
NM_003907.3:c.653C>T MANE Select	NP_003898.2:p.Thr218Ile
XM_011513266.3:c.-249C>T	XP_011511568.1:n.-249C>T
XR_001740352.2:n.1016C>T
XR_001740353.2:n.1016C>T
XR_924208.2:n.1016C>T