Canonical Allele Identifier: CA437323744

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858209C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140421C>T , CM000665.2:g.184140421C>T	GRCh38
NC_000003.11:g.183858209C>T , CM000665.1:g.183858209C>T	GRCh37
NC_000003.10:g.185340903C>T	NCBI36
NG_015826.1:g.10400C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.870C>T
ENST00000468748.7:n.1090C>T
ENST00000484154.2:n.1387-1504C>T
ENST00000491008.6:n.1595C>T
ENST00000492226.2:n.1104C>T
ENST00000492773.6:c.601C>T
ENST00000647636.1:c.847C>T	ENSP00000497505.1:p.Leu283=
ENST00000647909.1:c.871C>T	ENSP00000498164.1:p.Leu291=
ENST00000648145.1:c.615C>T
ENST00000648189.1:c.661C>T
ENST00000648256.1:c.819C>T	ENSP00000497356.1:n.819C>T
ENST00000648314.1:c.911C>T	ENSP00000496920.1:p.Pro304Leu
ENST00000648599.1:c.*130C>T	ENSP00000497159.1:n.*130C>T
ENST00000648630.1:c.841C>T	ENSP00000497887.1:p.Leu281=
ENST00000648682.1:c.847C>T	ENSP00000498185.1:p.Leu283=
ENST00000648882.1:c.*673C>T	ENSP00000497603.1:n.*673C>T
ENST00000648890.1:c.847C>T	ENSP00000497503.1:p.Leu283=
ENST00000648915.2:c.847C>T MANE Select	ENSP00000497160.1:p.Leu283=
ENST00000649545.1:c.577+264C>T
ENST00000649688.1:c.*130C>T	ENSP00000497097.1:n.*130C>T
ENST00000649814.1:n.896C>T
ENST00000650270.1:c.714C>T
ENST00000273783.7:c.847C>T	ENSP00000273783.3:p.Leu283=
ENST00000432982.5:c.246-1816C>T
ENST00000444495.1:c.847C>T	ENSP00000409142.1:p.Leu283=
ENST00000468748.5:n.560C>T
ENST00000479833.1:n.163C>T
ENST00000481054.5:n.941C>T
ENST00000491144.5:n.1351C>T
ENST00000493740.1:n.77C>T
NM_003907.2:c.847C>T	NP_003898.2:p.Leu283=
XM_011513265.1:c.97C>T	XP_011511567.1:p.Leu33=
XM_011513266.1:c.10C>T	XP_011511568.1:p.Leu4=
XR_924208.1:n.1798C>T
NM_003907.3:c.847C>T MANE Select	NP_003898.2:p.Leu283=
XM_011513266.3:c.10C>T	XP_011511568.1:p.Leu4=
XR_001740352.2:n.1210C>T
XR_001740353.2:n.1210C>T
XR_924208.2:n.1210C>T