Canonical Allele Identifier: CA355385354

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858323C>A (hg19) ; chr3:g.184140535C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140535C>A , CM000665.2:g.184140535C>A	GRCh38
NC_000003.11:g.183858323C>A , CM000665.1:g.183858323C>A	GRCh37
NC_000003.10:g.185341017C>A	NCBI36
NG_015826.1:g.10514C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.984C>A
ENST00000468748.7:n.1204C>A
ENST00000484154.2:n.1387-1390C>A
ENST00000491008.6:n.1709C>A
ENST00000492226.2:n.1218C>A
ENST00000492773.6:c.715C>A
ENST00000647636.1:c.961C>A	ENSP00000497505.1:p.Leu321Ile
ENST00000647909.1:c.985C>A	ENSP00000498164.1:p.Leu329Ile
ENST00000648145.1:c.729C>A
ENST00000648189.1:c.775C>A
ENST00000648256.1:c.933C>A	ENSP00000497356.1:n.933C>A
ENST00000648314.1:c.*80C>A	ENSP00000496920.1:n.*80C>A
ENST00000648599.1:c.*244C>A	ENSP00000497159.1:n.*244C>A
ENST00000648630.1:c.955C>A	ENSP00000497887.1:p.Leu319Ile
ENST00000648682.1:c.961C>A	ENSP00000498185.1:p.Leu321Ile
ENST00000648882.1:c.*787C>A	ENSP00000497603.1:n.*787C>A
ENST00000648890.1:c.961C>A	ENSP00000497503.1:p.Leu321Ile
ENST00000648915.2:c.961C>A MANE Select	ENSP00000497160.1:p.Leu321Ile
ENST00000649545.1:c.577+378C>A
ENST00000649688.1:c.*244C>A	ENSP00000497097.1:n.*244C>A
ENST00000649814.1:n.1010C>A
ENST00000650270.1:c.828C>A
ENST00000273783.7:c.961C>A	ENSP00000273783.3:p.Leu321Ile
ENST00000432982.5:c.246-1702C>A
ENST00000444495.1:c.961C>A	ENSP00000409142.1:p.Leu321Ile
ENST00000479833.1:n.277C>A
ENST00000481054.5:n.1055C>A
ENST00000491144.5:n.1465C>A
ENST00000493740.1:n.191C>A
NM_003907.2:c.961C>A	NP_003898.2:p.Leu321Ile
XM_011513265.1:c.211C>A	XP_011511567.1:p.Leu71Ile
XM_011513266.1:c.124C>A	XP_011511568.1:p.Leu42Ile
XR_924208.1:n.1912C>A
NM_003907.3:c.961C>A MANE Select	NP_003898.2:p.Leu321Ile
XM_011513266.3:c.124C>A	XP_011511568.1:p.Leu42Ile
XR_001740352.2:n.1324C>A
XR_001740353.2:n.1324C>A
XR_924208.2:n.1324C>A