Canonical Allele Identifier: CA355383066

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183856013T>G (hg19) ; chr3:g.184138225T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138225T>G , CM000665.2:g.184138225T>G	GRCh38
NC_000003.11:g.183856013T>G , CM000665.1:g.183856013T>G	GRCh37
NC_000003.10:g.185338707T>G	NCBI36
NG_015826.1:g.8204T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.767T>G
ENST00000468748.7:n.727T>G
ENST00000484154.2:n.1365T>G
ENST00000491008.6:n.1492T>G
ENST00000492226.2:n.741T>G
ENST00000492773.6:c.498T>G
ENST00000647636.1:c.744T>G	ENSP00000497505.1:p.His248Gln
ENST00000647909.1:c.768T>G	ENSP00000498164.1:p.His256Gln
ENST00000648145.1:c.512T>G
ENST00000648189.1:c.494T>G
ENST00000648256.1:c.693T>G	ENSP00000497356.1:p.His231Gln
ENST00000648314.1:c.744T>G	ENSP00000496920.1:p.His248Gln
ENST00000648599.1:c.744T>G	ENSP00000497159.1:p.His248Gln
ENST00000648630.1:c.738T>G	ENSP00000497887.1:p.His246Gln
ENST00000648682.1:c.744T>G	ENSP00000498185.1:p.His248Gln
ENST00000648882.1:c.*570T>G	ENSP00000497603.1:n.*570T>G
ENST00000648890.1:c.744T>G	ENSP00000497503.1:p.His248Gln
ENST00000648915.2:c.744T>G MANE Select	ENSP00000497160.1:p.His248Gln
ENST00000649545.1:c.478T>G
ENST00000649688.1:c.744T>G	ENSP00000497097.1:p.His248Gln
ENST00000649814.1:n.793T>G
ENST00000650270.1:c.611T>G
ENST00000273783.7:c.744T>G	ENSP00000273783.3:p.His248Gln
ENST00000432982.5:c.245+1550T>G
ENST00000444495.1:c.744T>G	ENSP00000409142.1:p.His248Gln
ENST00000468748.5:n.197T>G
ENST00000479833.1:n.60T>G
ENST00000481054.5:n.745T>G
ENST00000491008.5:n.708T>G
ENST00000491144.5:n.1184T>G
NM_003907.2:c.744T>G	NP_003898.2:p.His248Gln
XR_924208.1:n.1695T>G
NM_003907.3:c.744T>G MANE Select	NP_003898.2:p.His248Gln
XM_011513266.3:c.-158T>G	XP_011511568.1:n.-158T>G
XR_001740352.2:n.1107T>G
XR_001740353.2:n.1107T>G
XR_924208.2:n.1107T>G