Canonical Allele Identifier: CA119699
Gene: EPHB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8532
ClinVar RCV Id: RCV000009058
dbSNP Id: rs121912582

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.22907980C>T , CM000663.2:g.22907980C>T GRCh38
NC_000001.10:g.23234473C>T , CM000663.1:g.23234473C>T GRCh37
NC_000001.9:g.23107060C>T NCBI36
NG_011804.2:g.202143C>T , LRG_780:g.202143C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374630.8:c.2164C>T MANE Select ENSP00000363761.3:p.Gln722Ter
ENST00000374627.1:c.2149C>T ENSP00000363758.1:p.Gln717Ter
ENST00000374630.7:c.2164C>T ENSP00000363761.3:p.Gln722Ter
ENST00000374632.7:c.2167C>T ENSP00000363763.3:p.Gln723Ter
ENST00000400191.7:c.2164C>T ENSP00000383053.3:p.Gln722Ter
NM_001309192.1:c.1990C>T NP_001296121.1:p.Gln664Ter
NM_001309193.1:c.2164C>T NP_001296122.1:p.Gln722Ter
NM_004442.6:c.2167C>T NP_004433.2:p.Gln723Ter
NM_004442.7:c.2167C>T , LRG_780t1:c.2167C>T NP_004433.2:p.Gln723Ter
NM_017449.3:c.2164C>T NP_059145.2:p.Gln722Ter
NM_017449.4:c.2164C>T , LRG_780t2:c.2164C>T NP_059145.2:p.Gln722Ter
XM_006710441.2:c.2146C>T XP_006710504.1:p.Gln716Ter
XM_006710442.2:c.2074C>T XP_006710505.1:p.Gln692Ter
XM_011540976.1:c.841C>T XP_011539278.1:p.Gln281Ter
XM_006710441.4:c.2146C>T XP_006710504.1:p.Gln716Ter
XM_006710442.4:c.2074C>T XP_006710505.1:p.Gln692Ter
XM_024453895.1:c.841C>T XP_024309663.1:p.Gln281Ter
NM_001309192.2:c.1990C>T NP_001296121.1:p.Gln664Ter
NM_001309193.2:c.2164C>T NP_001296122.1:p.Gln722Ter
NM_017449.5:c.2164C>T MANE Select NP_059145.2:p.Gln722Ter