Canonical Allele Identifier: CA355382213

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1465830
• ClinVar RCV Id: RCV001959357
• dbSNP Id: rs1282408410
• MyVariant Identifiers: chr3:g.183855729A>T (hg19) ; chr3:g.184137941A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137941A>T , CM000665.2:g.184137941A>T	GRCh38
NC_000003.11:g.183855729A>T , CM000665.1:g.183855729A>T	GRCh37
NC_000003.10:g.185338423A>T	NCBI36
NG_015826.1:g.7920A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.573A>T
ENST00000468748.7:n.533A>T
ENST00000484154.2:n.1171A>T
ENST00000491008.6:n.1298A>T
ENST00000492226.2:n.547A>T
ENST00000492773.6:c.282A>T
ENST00000647636.1:c.550A>T	ENSP00000497505.1:p.Ile184Phe
ENST00000647909.1:c.574A>T	ENSP00000498164.1:p.Ile192Phe
ENST00000648145.1:c.318A>T
ENST00000648189.1:c.300A>T
ENST00000648256.1:c.499A>T	ENSP00000497356.1:p.Ile167Phe
ENST00000648314.1:c.550A>T	ENSP00000496920.1:p.Ile184Phe
ENST00000648599.1:c.550A>T	ENSP00000497159.1:p.Ile184Phe
ENST00000648630.1:c.544A>T	ENSP00000497887.1:p.Ile182Phe
ENST00000648682.1:c.550A>T	ENSP00000498185.1:p.Ile184Phe
ENST00000648882.1:c.*376A>T	ENSP00000497603.1:n.*376A>T
ENST00000648890.1:c.550A>T	ENSP00000497503.1:p.Ile184Phe
ENST00000648915.2:c.550A>T MANE Select	ENSP00000497160.1:p.Ile184Phe
ENST00000649545.1:c.284A>T
ENST00000649688.1:c.550A>T	ENSP00000497097.1:p.Ile184Phe
ENST00000649814.1:n.599A>T
ENST00000650244.1:c.695A>T	ENSP00000497227.1:n.695A>T
ENST00000650270.1:c.417A>T
ENST00000273783.7:c.550A>T	ENSP00000273783.3:p.Ile184Phe
ENST00000432982.5:c.245+1266A>T
ENST00000444495.1:c.550A>T	ENSP00000409142.1:p.Ile184Phe
ENST00000468748.5:n.3A>T
ENST00000481054.5:n.551A>T
ENST00000491008.5:n.514A>T
ENST00000491144.5:n.990A>T
ENST00000498831.1:n.505A>T
NM_003907.2:c.550A>T	NP_003898.2:p.Ile184Phe
XR_924208.1:n.1501A>T
NM_003907.3:c.550A>T MANE Select	NP_003898.2:p.Ile184Phe
XM_011513266.3:c.-352A>T	XP_011511568.1:n.-352A>T
XR_001740352.2:n.913A>T
XR_001740353.2:n.913A>T
XR_924208.2:n.913A>T