Canonical Allele Identifier: CA88842896

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1042057631
• MyVariant Identifiers: chr3:g.183858384A>G (hg19) ; chr3:g.184140596A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140596A>G , CM000665.2:g.184140596A>G	GRCh38
NC_000003.11:g.183858384A>G , CM000665.1:g.183858384A>G	GRCh37
NC_000003.10:g.185341078A>G	NCBI36
NG_015826.1:g.10575A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1045A>G
ENST00000468748.7:n.1265A>G
ENST00000484154.2:n.1387-1329A>G
ENST00000491008.6:n.1770A>G
ENST00000492226.2:n.1279A>G
ENST00000492773.6:c.776A>G
ENST00000647636.1:c.1022A>G	ENSP00000497505.1:p.Asn341Ser
ENST00000647909.1:c.1046A>G	ENSP00000498164.1:p.Asn349Ser
ENST00000648145.1:c.790A>G
ENST00000648189.1:c.836A>G
ENST00000648256.1:c.994A>G	ENSP00000497356.1:n.994A>G
ENST00000648314.1:c.*141A>G	ENSP00000496920.1:n.*141A>G
ENST00000648599.1:c.*305A>G	ENSP00000497159.1:n.*305A>G
ENST00000648630.1:c.1016A>G	ENSP00000497887.1:p.Asn339Ser
ENST00000648682.1:c.1022A>G	ENSP00000498185.1:p.Asn341Ser
ENST00000648882.1:c.*848A>G	ENSP00000497603.1:n.*848A>G
ENST00000648890.1:c.1022A>G	ENSP00000497503.1:p.Asn341Ser
ENST00000648915.2:c.1022A>G MANE Select	ENSP00000497160.1:p.Asn341Ser
ENST00000649545.1:c.577+439A>G
ENST00000649688.1:c.*305A>G	ENSP00000497097.1:n.*305A>G
ENST00000649814.1:n.1071A>G
ENST00000650270.1:c.889A>G
ENST00000273783.7:c.1022A>G	ENSP00000273783.3:p.Asn341Ser
ENST00000432982.5:c.246-1641A>G
ENST00000444495.1:c.1022A>G	ENSP00000409142.1:p.Asn341Ser
ENST00000479833.1:n.338A>G
ENST00000481054.5:n.1116A>G
ENST00000491144.5:n.1526A>G
ENST00000493740.1:n.252A>G
NM_003907.2:c.1022A>G	NP_003898.2:p.Asn341Ser
XM_011513265.1:c.272A>G	XP_011511567.1:p.Asn91Ser
XM_011513266.1:c.185A>G	XP_011511568.1:p.Asn62Ser
XR_924208.1:n.1973A>G
NM_003907.3:c.1022A>G MANE Select	NP_003898.2:p.Asn341Ser
XM_011513266.3:c.185A>G	XP_011511568.1:p.Asn62Ser
XR_001740352.2:n.1385A>G
XR_001740353.2:n.1385A>G
XR_924208.2:n.1385A>G