Canonical Allele Identifier: CA437323630

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855842C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138054C>G , CM000665.2:g.184138054C>G	GRCh38
NC_000003.11:g.183855842C>G , CM000665.1:g.183855842C>G	GRCh37
NC_000003.10:g.185338536C>G	NCBI36
NG_015826.1:g.8033C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.686C>G
ENST00000468748.7:n.646C>G
ENST00000484154.2:n.1284C>G
ENST00000491008.6:n.1411C>G
ENST00000492226.2:n.660C>G
ENST00000492773.6:c.395C>G
ENST00000647636.1:c.663C>G	ENSP00000497505.1:p.Leu221=
ENST00000647909.1:c.687C>G	ENSP00000498164.1:p.Leu229=
ENST00000648145.1:c.431C>G
ENST00000648189.1:c.413C>G
ENST00000648256.1:c.612C>G	ENSP00000497356.1:p.Leu204=
ENST00000648314.1:c.663C>G	ENSP00000496920.1:p.Leu221=
ENST00000648599.1:c.663C>G	ENSP00000497159.1:p.Leu221=
ENST00000648630.1:c.657C>G	ENSP00000497887.1:p.Leu219=
ENST00000648682.1:c.663C>G	ENSP00000498185.1:p.Leu221=
ENST00000648882.1:c.*489C>G	ENSP00000497603.1:n.*489C>G
ENST00000648890.1:c.663C>G	ENSP00000497503.1:p.Leu221=
ENST00000648915.2:c.663C>G MANE Select	ENSP00000497160.1:p.Leu221=
ENST00000649545.1:c.397C>G
ENST00000649688.1:c.663C>G	ENSP00000497097.1:p.Leu221=
ENST00000649814.1:n.712C>G
ENST00000650270.1:c.530C>G
ENST00000273783.7:c.663C>G	ENSP00000273783.3:p.Leu221=
ENST00000432982.5:c.245+1379C>G
ENST00000444495.1:c.663C>G	ENSP00000409142.1:p.Leu221=
ENST00000468748.5:n.116C>G
ENST00000481054.5:n.664C>G
ENST00000491008.5:n.627C>G
ENST00000491144.5:n.1103C>G
NM_003907.2:c.663C>G	NP_003898.2:p.Leu221=
XR_924208.1:n.1614C>G
NM_003907.3:c.663C>G MANE Select	NP_003898.2:p.Leu221=
XM_011513266.3:c.-239C>G	XP_011511568.1:n.-239C>G
XR_001740352.2:n.1026C>G
XR_001740353.2:n.1026C>G
XR_924208.2:n.1026C>G