Canonical Allele Identifier: CA355384941

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858266A>T (hg19) ; chr3:g.184140478A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140478A>T , CM000665.2:g.184140478A>T	GRCh38
NC_000003.11:g.183858266A>T , CM000665.1:g.183858266A>T	GRCh37
NC_000003.10:g.185340960A>T	NCBI36
NG_015826.1:g.10457A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.927A>T
ENST00000468748.7:n.1147A>T
ENST00000484154.2:n.1387-1447A>T
ENST00000491008.6:n.1652A>T
ENST00000492226.2:n.1161A>T
ENST00000492773.6:c.658A>T
ENST00000647636.1:c.904A>T	ENSP00000497505.1:p.Asn302Tyr
ENST00000647909.1:c.928A>T	ENSP00000498164.1:p.Asn310Tyr
ENST00000648145.1:c.672A>T
ENST00000648189.1:c.718A>T
ENST00000648256.1:c.876A>T	ENSP00000497356.1:n.876A>T
ENST00000648314.1:c.*23A>T	ENSP00000496920.1:n.*23A>T
ENST00000648599.1:c.*187A>T	ENSP00000497159.1:n.*187A>T
ENST00000648630.1:c.898A>T	ENSP00000497887.1:p.Asn300Tyr
ENST00000648682.1:c.904A>T	ENSP00000498185.1:p.Asn302Tyr
ENST00000648882.1:c.*730A>T	ENSP00000497603.1:n.*730A>T
ENST00000648890.1:c.904A>T	ENSP00000497503.1:p.Asn302Tyr
ENST00000648915.2:c.904A>T MANE Select	ENSP00000497160.1:p.Asn302Tyr
ENST00000649545.1:c.577+321A>T
ENST00000649688.1:c.*187A>T	ENSP00000497097.1:n.*187A>T
ENST00000649814.1:n.953A>T
ENST00000650270.1:c.771A>T
ENST00000273783.7:c.904A>T	ENSP00000273783.3:p.Asn302Tyr
ENST00000432982.5:c.246-1759A>T
ENST00000444495.1:c.904A>T	ENSP00000409142.1:p.Asn302Tyr
ENST00000468748.5:n.617A>T
ENST00000479833.1:n.220A>T
ENST00000481054.5:n.998A>T
ENST00000491144.5:n.1408A>T
ENST00000493740.1:n.134A>T
NM_003907.2:c.904A>T	NP_003898.2:p.Asn302Tyr
XM_011513265.1:c.154A>T	XP_011511567.1:p.Asn52Tyr
XM_011513266.1:c.67A>T	XP_011511568.1:p.Asn23Tyr
XR_924208.1:n.1855A>T
NM_003907.3:c.904A>T MANE Select	NP_003898.2:p.Asn302Tyr
XM_011513266.3:c.67A>T	XP_011511568.1:p.Asn23Tyr
XR_001740352.2:n.1267A>T
XR_001740353.2:n.1267A>T
XR_924208.2:n.1267A>T