Canonical Allele Identifier: CA355387074

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859799G>T (hg19) ; chr3:g.184142011G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142011G>T , CM000665.2:g.184142011G>T	GRCh38
NC_000003.11:g.183859799G>T , CM000665.1:g.183859799G>T	GRCh37
NC_000003.10:g.185342493G>T	NCBI36
NG_015826.1:g.11990G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1266G>T
ENST00000468748.7:n.1486G>T
ENST00000484154.2:n.1473G>T
ENST00000491008.6:n.1991G>T
ENST00000492226.2:n.1510G>T
ENST00000492773.6:c.997G>T
ENST00000647636.1:c.*92G>T	ENSP00000497505.1:n.*92G>T
ENST00000647909.1:c.1267G>T	ENSP00000498164.1:p.Asp423Tyr
ENST00000648145.1:c.1015G>T
ENST00000648189.1:c.1061G>T
ENST00000648256.1:c.1215G>T	ENSP00000497356.1:n.1215G>T
ENST00000648314.1:c.*362G>T	ENSP00000496920.1:n.*362G>T
ENST00000648599.1:c.*526G>T	ENSP00000497159.1:n.*526G>T
ENST00000648630.1:c.1122G>T	ENSP00000497887.1:p.Val374=
ENST00000648682.1:c.*83G>T	ENSP00000498185.1:n.*83G>T
ENST00000648882.1:c.*1069G>T	ENSP00000497603.1:n.*1069G>T
ENST00000648890.1:c.1243G>T	ENSP00000497503.1:p.Asp415Tyr
ENST00000648915.2:c.1243G>T MANE Select	ENSP00000497160.1:p.Asp415Tyr
ENST00000649545.1:c.664G>T
ENST00000649688.1:c.*536G>T	ENSP00000497097.1:n.*536G>T
ENST00000649814.1:n.1292G>T
ENST00000650270.1:c.1110G>T
ENST00000273783.7:c.1243G>T	ENSP00000273783.3:p.Asp415Tyr
ENST00000432982.5:c.246-226G>T
ENST00000444495.1:c.1243G>T	ENSP00000409142.1:p.Asp415Tyr
ENST00000479833.1:n.444G>T
ENST00000481054.5:n.1337G>T
ENST00000491144.5:n.1747G>T
ENST00000492773.5:n.126G>T
NM_003907.2:c.1243G>T	NP_003898.2:p.Asp415Tyr
XM_011513265.1:c.493G>T	XP_011511567.1:p.Asp165Tyr
XM_011513266.1:c.406G>T	XP_011511568.1:p.Asp136Tyr
XR_924208.1:n.2194G>T
NM_003907.3:c.1243G>T MANE Select	NP_003898.2:p.Asp415Tyr
XM_011513266.3:c.406G>T	XP_011511568.1:p.Asp136Tyr
XR_001740352.2:n.1606G>T
XR_001740353.2:n.1606G>T
XR_924208.2:n.1606G>T