Canonical Allele Identifier: CA437147484

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857897C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140109C>T , CM000665.2:g.184140109C>T	GRCh38
NC_000003.11:g.183857897C>T , CM000665.1:g.183857897C>T	GRCh37
NC_000003.10:g.185340591C>T	NCBI36
NG_015826.1:g.10088C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.818C>T
ENST00000468748.7:n.778C>T
ENST00000484154.2:n.1387-1816C>T
ENST00000491008.6:n.1543C>T
ENST00000492226.2:n.792C>T
ENST00000492773.6:c.549C>T
ENST00000647636.1:c.795C>T	ENSP00000497505.1:p.Asp265=
ENST00000647909.1:c.819C>T	ENSP00000498164.1:p.Asp273=
ENST00000648145.1:c.563C>T
ENST00000648189.1:c.545C>T
ENST00000648256.1:c.767C>T	ENSP00000497356.1:p.Thr256Ile
ENST00000648314.1:c.795C>T	ENSP00000496920.1:p.Asp265=
ENST00000648599.1:c.*78C>T	ENSP00000497159.1:n.*78C>T
ENST00000648630.1:c.789C>T	ENSP00000497887.1:p.Asp263=
ENST00000648682.1:c.795C>T	ENSP00000498185.1:p.Asp265=
ENST00000648882.1:c.*621C>T	ENSP00000497603.1:n.*621C>T
ENST00000648890.1:c.795C>T	ENSP00000497503.1:p.Asp265=
ENST00000648915.2:c.795C>T MANE Select	ENSP00000497160.1:p.Asp265=
ENST00000649545.1:c.529C>T
ENST00000649688.1:c.*78C>T	ENSP00000497097.1:n.*78C>T
ENST00000649814.1:n.844C>T
ENST00000650270.1:c.662C>T
ENST00000273783.7:c.795C>T	ENSP00000273783.3:p.Asp265=
ENST00000432982.5:c.246-2128C>T
ENST00000444495.1:c.795C>T	ENSP00000409142.1:p.Asp265=
ENST00000468748.5:n.248C>T
ENST00000479833.1:n.111C>T
ENST00000481054.5:n.889C>T
ENST00000491008.5:n.759C>T
ENST00000491144.5:n.1235C>T
NM_003907.2:c.795C>T	NP_003898.2:p.Asp265=
XM_011513265.1:c.45C>T	XP_011511567.1:p.Asp15=
XR_924208.1:n.1746C>T
NM_003907.3:c.795C>T MANE Select	NP_003898.2:p.Asp265=
XM_011513266.3:c.-107C>T	XP_011511568.1:n.-107C>T
XR_001740352.2:n.1158C>T
XR_001740353.2:n.1158C>T
XR_924208.2:n.1158C>T