Canonical Allele Identifier: CA678474
Gene: EPHB2 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.22863060G>C , CM000663.2:g.22863060G>C GRCh38
NC_000001.10:g.23189553G>C , CM000663.1:g.23189553G>C GRCh37
NC_000001.9:g.23062140G>C NCBI36
NG_011804.2:g.157223G>C , LRG_780:g.157223G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374630.8:c.835G>C MANE Select ENSP00000363761.3:p.Ala279Pro
ENST00000374627.1:c.817G>C ENSP00000363758.1:p.Ala273Pro
ENST00000374630.7:c.835G>C ENSP00000363761.3:p.Ala279Pro
ENST00000374632.7:c.835G>C ENSP00000363763.3:p.Ala279Pro
ENST00000400191.7:c.835G>C ENSP00000383053.3:p.Ala279Pro
ENST00000465676.1:n.76G>C
ENST00000544305.5:c.835G>C ENSP00000444174.1:p.Ala279Pro
NM_001309192.1:c.835G>C NP_001296121.1:p.Ala279Pro
NM_001309193.1:c.835G>C NP_001296122.1:p.Ala279Pro
NM_004442.6:c.835G>C NP_004433.2:p.Ala279Pro
NM_004442.7:c.835G>C , LRG_780t1:c.835G>C NP_004433.2:p.Ala279Pro
NM_017449.3:c.835G>C NP_059145.2:p.Ala279Pro
NM_017449.4:c.835G>C , LRG_780t2:c.835G>C NP_059145.2:p.Ala279Pro
XM_006710441.2:c.814G>C XP_006710504.1:p.Ala272Pro
XM_006710442.2:c.835G>C XP_006710505.1:p.Ala279Pro
XM_006710441.4:c.814G>C XP_006710504.1:p.Ala272Pro
XM_006710442.4:c.835G>C XP_006710505.1:p.Ala279Pro
NM_001309192.2:c.835G>C NP_001296121.1:p.Ala279Pro
NM_001309193.2:c.835G>C NP_001296122.1:p.Ala279Pro
NM_017449.5:c.835G>C MANE Select NP_059145.2:p.Ala279Pro