Canonical Allele Identifier: CA355386739

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859742C>G (hg19) ; chr3:g.184141954C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141954C>G , CM000665.2:g.184141954C>G	GRCh38
NC_000003.11:g.183859742C>G , CM000665.1:g.183859742C>G	GRCh37
NC_000003.10:g.185342436C>G	NCBI36
NG_015826.1:g.11933C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1209C>G
ENST00000468748.7:n.1429C>G
ENST00000484154.2:n.1416C>G
ENST00000491008.6:n.1934C>G
ENST00000492226.2:n.1453C>G
ENST00000492773.6:c.940C>G
ENST00000647636.1:c.*35C>G	ENSP00000497505.1:n.*35C>G
ENST00000647909.1:c.1210C>G	ENSP00000498164.1:p.Leu404Val
ENST00000648145.1:c.958C>G
ENST00000648189.1:c.1004C>G
ENST00000648256.1:c.1158C>G	ENSP00000497356.1:n.1158C>G
ENST00000648314.1:c.*305C>G	ENSP00000496920.1:n.*305C>G
ENST00000648599.1:c.*469C>G	ENSP00000497159.1:n.*469C>G
ENST00000648630.1:c.1065C>G	ENSP00000497887.1:p.Thr355=
ENST00000648682.1:c.*26C>G	ENSP00000498185.1:n.*26C>G
ENST00000648882.1:c.*1012C>G	ENSP00000497603.1:n.*1012C>G
ENST00000648890.1:c.1186C>G	ENSP00000497503.1:p.Leu396Val
ENST00000648915.2:c.1186C>G MANE Select	ENSP00000497160.1:p.Leu396Val
ENST00000649545.1:c.607C>G
ENST00000649688.1:c.*479C>G	ENSP00000497097.1:n.*479C>G
ENST00000649814.1:n.1235C>G
ENST00000650270.1:c.1053C>G
ENST00000273783.7:c.1186C>G	ENSP00000273783.3:p.Leu396Val
ENST00000432982.5:c.246-283C>G
ENST00000444495.1:c.1186C>G	ENSP00000409142.1:p.Leu396Val
ENST00000479833.1:n.387C>G
ENST00000481054.5:n.1280C>G
ENST00000491144.5:n.1690C>G
ENST00000492773.5:n.69C>G
NM_003907.2:c.1186C>G	NP_003898.2:p.Leu396Val
XM_011513265.1:c.436C>G	XP_011511567.1:p.Leu146Val
XM_011513266.1:c.349C>G	XP_011511568.1:p.Leu117Val
XR_924208.1:n.2137C>G
NM_003907.3:c.1186C>G MANE Select	NP_003898.2:p.Leu396Val
XM_011513266.3:c.349C>G	XP_011511568.1:p.Leu117Val
XR_001740352.2:n.1549C>G
XR_001740353.2:n.1549C>G
XR_924208.2:n.1549C>G