Canonical Allele Identifier: CA437323755

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184140429-C-T
• MyVariant Identifiers: chr3:g.183858217C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140429C>T , CM000665.2:g.184140429C>T	GRCh38
NC_000003.11:g.183858217C>T , CM000665.1:g.183858217C>T	GRCh37
NC_000003.10:g.185340911C>T	NCBI36
NG_015826.1:g.10408C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.878C>T
ENST00000468748.7:n.1098C>T
ENST00000484154.2:n.1387-1496C>T
ENST00000491008.6:n.1603C>T
ENST00000492226.2:n.1112C>T
ENST00000492773.6:c.609C>T
ENST00000647636.1:c.855C>T	ENSP00000497505.1:p.Asn285=
ENST00000647909.1:c.879C>T	ENSP00000498164.1:p.Asn293=
ENST00000648145.1:c.623C>T
ENST00000648189.1:c.669C>T
ENST00000648256.1:c.827C>T	ENSP00000497356.1:n.827C>T
ENST00000648314.1:c.919C>T	ENSP00000496920.1:p.Pro307Ser
ENST00000648599.1:c.*138C>T	ENSP00000497159.1:n.*138C>T
ENST00000648630.1:c.849C>T	ENSP00000497887.1:p.Asn283=
ENST00000648682.1:c.855C>T	ENSP00000498185.1:p.Asn285=
ENST00000648882.1:c.*681C>T	ENSP00000497603.1:n.*681C>T
ENST00000648890.1:c.855C>T	ENSP00000497503.1:p.Asn285=
ENST00000648915.2:c.855C>T MANE Select	ENSP00000497160.1:p.Asn285=
ENST00000649545.1:c.577+272C>T
ENST00000649688.1:c.*138C>T	ENSP00000497097.1:n.*138C>T
ENST00000649814.1:n.904C>T
ENST00000650270.1:c.722C>T
ENST00000273783.7:c.855C>T	ENSP00000273783.3:p.Asn285=
ENST00000432982.5:c.246-1808C>T
ENST00000444495.1:c.855C>T	ENSP00000409142.1:p.Asn285=
ENST00000468748.5:n.568C>T
ENST00000479833.1:n.171C>T
ENST00000481054.5:n.949C>T
ENST00000491144.5:n.1359C>T
ENST00000493740.1:n.85C>T
NM_003907.2:c.855C>T	NP_003898.2:p.Asn285=
XM_011513265.1:c.105C>T	XP_011511567.1:p.Asn35=
XM_011513266.1:c.18C>T	XP_011511568.1:p.Asn6=
XR_924208.1:n.1806C>T
NM_003907.3:c.855C>T MANE Select	NP_003898.2:p.Asn285=
XM_011513266.3:c.18C>T	XP_011511568.1:p.Asn6=
XR_001740352.2:n.1218C>T
XR_001740353.2:n.1218C>T
XR_924208.2:n.1218C>T