Canonical Allele Identifier: CA355383043

Gene: EIF2B5

Linked Data

• dbSNP Id: rs2109007364
• MyVariant Identifiers: chr3:g.183856009G>A (hg19) ; chr3:g.184138221G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138221G>A , CM000665.2:g.184138221G>A	GRCh38
NC_000003.11:g.183856009G>A , CM000665.1:g.183856009G>A	GRCh37
NC_000003.10:g.185338703G>A	NCBI36
NG_015826.1:g.8200G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.763G>A
ENST00000468748.7:n.723G>A
ENST00000484154.2:n.1361G>A
ENST00000491008.6:n.1488G>A
ENST00000492226.2:n.737G>A
ENST00000492773.6:c.494G>A
ENST00000647636.1:c.740G>A	ENSP00000497505.1:p.Cys247Tyr
ENST00000647909.1:c.764G>A	ENSP00000498164.1:p.Cys255Tyr
ENST00000648145.1:c.508G>A
ENST00000648189.1:c.490G>A
ENST00000648256.1:c.689G>A	ENSP00000497356.1:p.Cys230Tyr
ENST00000648314.1:c.740G>A	ENSP00000496920.1:p.Cys247Tyr
ENST00000648599.1:c.740G>A	ENSP00000497159.1:p.Cys247Tyr
ENST00000648630.1:c.734G>A	ENSP00000497887.1:p.Cys245Tyr
ENST00000648682.1:c.740G>A	ENSP00000498185.1:p.Cys247Tyr
ENST00000648882.1:c.*566G>A	ENSP00000497603.1:n.*566G>A
ENST00000648890.1:c.740G>A	ENSP00000497503.1:p.Cys247Tyr
ENST00000648915.2:c.740G>A MANE Select	ENSP00000497160.1:p.Cys247Tyr
ENST00000649545.1:c.474G>A
ENST00000649688.1:c.740G>A	ENSP00000497097.1:p.Cys247Tyr
ENST00000649814.1:n.789G>A
ENST00000650270.1:c.607G>A
ENST00000273783.7:c.740G>A	ENSP00000273783.3:p.Cys247Tyr
ENST00000432982.5:c.245+1546G>A
ENST00000444495.1:c.740G>A	ENSP00000409142.1:p.Cys247Tyr
ENST00000468748.5:n.193G>A
ENST00000479833.1:n.56G>A
ENST00000481054.5:n.741G>A
ENST00000491008.5:n.704G>A
ENST00000491144.5:n.1180G>A
NM_003907.2:c.740G>A	NP_003898.2:p.Cys247Tyr
XR_924208.1:n.1691G>A
NM_003907.3:c.740G>A MANE Select	NP_003898.2:p.Cys247Tyr
XM_011513266.3:c.-162G>A	XP_011511568.1:n.-162G>A
XR_001740352.2:n.1103G>A
XR_001740353.2:n.1103G>A
XR_924208.2:n.1103G>A