Canonical Allele Identifier: CA355382425

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855827G>T (hg19) ; chr3:g.184138039G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138039G>T , CM000665.2:g.184138039G>T	GRCh38
NC_000003.11:g.183855827G>T , CM000665.1:g.183855827G>T	GRCh37
NC_000003.10:g.185338521G>T	NCBI36
NG_015826.1:g.8018G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.671G>T
ENST00000468748.7:n.631G>T
ENST00000484154.2:n.1269G>T
ENST00000491008.6:n.1396G>T
ENST00000492226.2:n.645G>T
ENST00000492773.6:c.380G>T
ENST00000647636.1:c.648G>T	ENSP00000497505.1:p.Gln216His
ENST00000647909.1:c.672G>T	ENSP00000498164.1:p.Gln224His
ENST00000648145.1:c.416G>T
ENST00000648189.1:c.398G>T
ENST00000648256.1:c.597G>T	ENSP00000497356.1:p.Gln199His
ENST00000648314.1:c.648G>T	ENSP00000496920.1:p.Gln216His
ENST00000648599.1:c.648G>T	ENSP00000497159.1:p.Gln216His
ENST00000648630.1:c.642G>T	ENSP00000497887.1:p.Gln214His
ENST00000648682.1:c.648G>T	ENSP00000498185.1:p.Gln216His
ENST00000648882.1:c.*474G>T	ENSP00000497603.1:n.*474G>T
ENST00000648890.1:c.648G>T	ENSP00000497503.1:p.Gln216His
ENST00000648915.2:c.648G>T MANE Select	ENSP00000497160.1:p.Gln216His
ENST00000649545.1:c.382G>T
ENST00000649688.1:c.648G>T	ENSP00000497097.1:p.Gln216His
ENST00000649814.1:n.697G>T
ENST00000650270.1:c.515G>T
ENST00000273783.7:c.648G>T	ENSP00000273783.3:p.Gln216His
ENST00000432982.5:c.245+1364G>T
ENST00000444495.1:c.648G>T	ENSP00000409142.1:p.Gln216His
ENST00000468748.5:n.101G>T
ENST00000481054.5:n.649G>T
ENST00000491008.5:n.612G>T
ENST00000491144.5:n.1088G>T
NM_003907.2:c.648G>T	NP_003898.2:p.Gln216His
XR_924208.1:n.1599G>T
NM_003907.3:c.648G>T MANE Select	NP_003898.2:p.Gln216His
XM_011513266.3:c.-254G>T	XP_011511568.1:n.-254G>T
XR_001740352.2:n.1011G>T
XR_001740353.2:n.1011G>T
XR_924208.2:n.1011G>T