Canonical Allele Identifier: CA355387365

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859842C>A (hg19) ; chr3:g.184142054C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142054C>A , CM000665.2:g.184142054C>A	GRCh38
NC_000003.11:g.183859842C>A , CM000665.1:g.183859842C>A	GRCh37
NC_000003.10:g.185342536C>A	NCBI36
NG_015826.1:g.12033C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1309C>A
ENST00000468748.7:n.1529C>A
ENST00000484154.2:n.1516C>A
ENST00000491008.6:n.2034C>A
ENST00000492226.2:n.1553C>A
ENST00000492773.6:c.1040C>A
ENST00000647636.1:c.*135C>A	ENSP00000497505.1:n.*135C>A
ENST00000647909.1:c.1310C>A	ENSP00000498164.1:p.Ser437Tyr
ENST00000648145.1:c.1058C>A
ENST00000648189.1:c.1104C>A
ENST00000648256.1:c.1258C>A	ENSP00000497356.1:n.1258C>A
ENST00000648314.1:c.*405C>A	ENSP00000496920.1:n.*405C>A
ENST00000648599.1:c.*569C>A	ENSP00000497159.1:n.*569C>A
ENST00000648630.1:c.1165C>A	ENSP00000497887.1:n.1165C>A
ENST00000648682.1:c.*126C>A	ENSP00000498185.1:n.*126C>A
ENST00000648882.1:c.*1112C>A	ENSP00000497603.1:n.*1112C>A
ENST00000648890.1:c.1286C>A	ENSP00000497503.1:p.Ser429Tyr
ENST00000648915.2:c.1286C>A MANE Select	ENSP00000497160.1:p.Ser429Tyr
ENST00000649545.1:c.707C>A
ENST00000649688.1:c.*579C>A	ENSP00000497097.1:n.*579C>A
ENST00000649814.1:n.1335C>A
ENST00000650270.1:c.1153C>A
ENST00000273783.7:c.1286C>A	ENSP00000273783.3:p.Ser429Tyr
ENST00000432982.5:c.246-183C>A
ENST00000444495.1:c.1286C>A	ENSP00000409142.1:p.Ser429Tyr
ENST00000481054.5:n.1380C>A
ENST00000491144.5:n.1790C>A
ENST00000492773.5:n.169C>A
NM_003907.2:c.1286C>A	NP_003898.2:p.Ser429Tyr
XM_011513265.1:c.536C>A	XP_011511567.1:p.Ser179Tyr
XM_011513266.1:c.449C>A	XP_011511568.1:p.Ser150Tyr
XR_924208.1:n.2237C>A
NM_003907.3:c.1286C>A MANE Select	NP_003898.2:p.Ser429Tyr
XM_011513266.3:c.449C>A	XP_011511568.1:p.Ser150Tyr
XR_001740352.2:n.1649C>A
XR_001740353.2:n.1649C>A
XR_924208.2:n.1649C>A