Canonical Allele Identifier: CA355384602

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858215A>T (hg19) ; chr3:g.184140427A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140427A>T , CM000665.2:g.184140427A>T	GRCh38
NC_000003.11:g.183858215A>T , CM000665.1:g.183858215A>T	GRCh37
NC_000003.10:g.185340909A>T	NCBI36
NG_015826.1:g.10406A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.876A>T
ENST00000468748.7:n.1096A>T
ENST00000484154.2:n.1387-1498A>T
ENST00000491008.6:n.1601A>T
ENST00000492226.2:n.1110A>T
ENST00000492773.6:c.607A>T
ENST00000647636.1:c.853A>T	ENSP00000497505.1:p.Asn285Tyr
ENST00000647909.1:c.877A>T	ENSP00000498164.1:p.Asn293Tyr
ENST00000648145.1:c.621A>T
ENST00000648189.1:c.667A>T
ENST00000648256.1:c.825A>T	ENSP00000497356.1:n.825A>T
ENST00000648314.1:c.917A>T	ENSP00000496920.1:p.Glu306Val
ENST00000648599.1:c.*136A>T	ENSP00000497159.1:n.*136A>T
ENST00000648630.1:c.847A>T	ENSP00000497887.1:p.Asn283Tyr
ENST00000648682.1:c.853A>T	ENSP00000498185.1:p.Asn285Tyr
ENST00000648882.1:c.*679A>T	ENSP00000497603.1:n.*679A>T
ENST00000648890.1:c.853A>T	ENSP00000497503.1:p.Asn285Tyr
ENST00000648915.2:c.853A>T MANE Select	ENSP00000497160.1:p.Asn285Tyr
ENST00000649545.1:c.577+270A>T
ENST00000649688.1:c.*136A>T	ENSP00000497097.1:n.*136A>T
ENST00000649814.1:n.902A>T
ENST00000650270.1:c.720A>T
ENST00000273783.7:c.853A>T	ENSP00000273783.3:p.Asn285Tyr
ENST00000432982.5:c.246-1810A>T
ENST00000444495.1:c.853A>T	ENSP00000409142.1:p.Asn285Tyr
ENST00000468748.5:n.566A>T
ENST00000479833.1:n.169A>T
ENST00000481054.5:n.947A>T
ENST00000491144.5:n.1357A>T
ENST00000493740.1:n.83A>T
NM_003907.2:c.853A>T	NP_003898.2:p.Asn285Tyr
XM_011513265.1:c.103A>T	XP_011511567.1:p.Asn35Tyr
XM_011513266.1:c.16A>T	XP_011511568.1:p.Asn6Tyr
XR_924208.1:n.1804A>T
NM_003907.3:c.853A>T MANE Select	NP_003898.2:p.Asn285Tyr
XM_011513266.3:c.16A>T	XP_011511568.1:p.Asn6Tyr
XR_001740352.2:n.1216A>T
XR_001740353.2:n.1216A>T
XR_924208.2:n.1216A>T