Canonical Allele Identifier: CA355386703

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713652523
• MyVariant Identifiers: chr3:g.183859739T>A (hg19) ; chr3:g.184141951T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141951T>A , CM000665.2:g.184141951T>A	GRCh38
NC_000003.11:g.183859739T>A , CM000665.1:g.183859739T>A	GRCh37
NC_000003.10:g.185342433T>A	NCBI36
NG_015826.1:g.11930T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1206T>A
ENST00000468748.7:n.1426T>A
ENST00000484154.2:n.1413T>A
ENST00000491008.6:n.1931T>A
ENST00000492226.2:n.1450T>A
ENST00000492773.6:c.937T>A
ENST00000647636.1:c.*32T>A	ENSP00000497505.1:n.*32T>A
ENST00000647909.1:c.1207T>A	ENSP00000498164.1:p.Tyr403Asn
ENST00000648145.1:c.955T>A
ENST00000648189.1:c.1001T>A
ENST00000648256.1:c.1155T>A	ENSP00000497356.1:n.1155T>A
ENST00000648314.1:c.*302T>A	ENSP00000496920.1:n.*302T>A
ENST00000648599.1:c.*466T>A	ENSP00000497159.1:n.*466T>A
ENST00000648630.1:c.1062T>A	ENSP00000497887.1:p.Pro354=
ENST00000648682.1:c.*23T>A	ENSP00000498185.1:n.*23T>A
ENST00000648882.1:c.*1009T>A	ENSP00000497603.1:n.*1009T>A
ENST00000648890.1:c.1183T>A	ENSP00000497503.1:p.Tyr395Asn
ENST00000648915.2:c.1183T>A MANE Select	ENSP00000497160.1:p.Tyr395Asn
ENST00000649545.1:c.604T>A
ENST00000649688.1:c.*476T>A	ENSP00000497097.1:n.*476T>A
ENST00000649814.1:n.1232T>A
ENST00000650270.1:c.1050T>A
ENST00000273783.7:c.1183T>A	ENSP00000273783.3:p.Tyr395Asn
ENST00000432982.5:c.246-286T>A
ENST00000444495.1:c.1183T>A	ENSP00000409142.1:p.Tyr395Asn
ENST00000479833.1:n.384T>A
ENST00000481054.5:n.1277T>A
ENST00000491144.5:n.1687T>A
ENST00000492773.5:n.66T>A
NM_003907.2:c.1183T>A	NP_003898.2:p.Tyr395Asn
XM_011513265.1:c.433T>A	XP_011511567.1:p.Tyr145Asn
XM_011513266.1:c.346T>A	XP_011511568.1:p.Tyr116Asn
XR_924208.1:n.2134T>A
NM_003907.3:c.1183T>A MANE Select	NP_003898.2:p.Tyr395Asn
XM_011513266.3:c.346T>A	XP_011511568.1:p.Tyr116Asn
XR_001740352.2:n.1546T>A
XR_001740353.2:n.1546T>A
XR_924208.2:n.1546T>A