Canonical Allele Identifier: CA355384588

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858212G>T (hg19) ; chr3:g.184140424G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140424G>T , CM000665.2:g.184140424G>T	GRCh38
NC_000003.11:g.183858212G>T , CM000665.1:g.183858212G>T	GRCh37
NC_000003.10:g.185340906G>T	NCBI36
NG_015826.1:g.10403G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.873G>T
ENST00000468748.7:n.1093G>T
ENST00000484154.2:n.1387-1501G>T
ENST00000491008.6:n.1598G>T
ENST00000492226.2:n.1107G>T
ENST00000492773.6:c.604G>T
ENST00000647636.1:c.850G>T	ENSP00000497505.1:p.Gly284Trp
ENST00000647909.1:c.874G>T	ENSP00000498164.1:p.Gly292Trp
ENST00000648145.1:c.618G>T
ENST00000648189.1:c.664G>T
ENST00000648256.1:c.822G>T	ENSP00000497356.1:n.822G>T
ENST00000648314.1:c.914G>T	ENSP00000496920.1:p.Arg305Met
ENST00000648599.1:c.*133G>T	ENSP00000497159.1:n.*133G>T
ENST00000648630.1:c.844G>T	ENSP00000497887.1:p.Gly282Trp
ENST00000648682.1:c.850G>T	ENSP00000498185.1:p.Gly284Trp
ENST00000648882.1:c.*676G>T	ENSP00000497603.1:n.*676G>T
ENST00000648890.1:c.850G>T	ENSP00000497503.1:p.Gly284Trp
ENST00000648915.2:c.850G>T MANE Select	ENSP00000497160.1:p.Gly284Trp
ENST00000649545.1:c.577+267G>T
ENST00000649688.1:c.*133G>T	ENSP00000497097.1:n.*133G>T
ENST00000649814.1:n.899G>T
ENST00000650270.1:c.717G>T
ENST00000273783.7:c.850G>T	ENSP00000273783.3:p.Gly284Trp
ENST00000432982.5:c.246-1813G>T
ENST00000444495.1:c.850G>T	ENSP00000409142.1:p.Gly284Trp
ENST00000468748.5:n.563G>T
ENST00000479833.1:n.166G>T
ENST00000481054.5:n.944G>T
ENST00000491144.5:n.1354G>T
ENST00000493740.1:n.80G>T
NM_003907.2:c.850G>T	NP_003898.2:p.Gly284Trp
XM_011513265.1:c.100G>T	XP_011511567.1:p.Gly34Trp
XM_011513266.1:c.13G>T	XP_011511568.1:p.Gly5Trp
XR_924208.1:n.1801G>T
NM_003907.3:c.850G>T MANE Select	NP_003898.2:p.Gly284Trp
XM_011513266.3:c.13G>T	XP_011511568.1:p.Gly5Trp
XR_001740352.2:n.1213G>T
XR_001740353.2:n.1213G>T
XR_924208.2:n.1213G>T