Canonical Allele Identifier: CA119709
Gene: EPHB2 HGNC NCBI
COSMIC:
COSM4989439 (not active)
COSM4989440 (not active)
COSM4989441 (not active)
MyVariant.info:
GRCh38 chr1:g.22906853G>A
GRCh37 chr1:g.23233346G>A
Revel Score:
ENST00000374625 0.334
ENST00000374630 (MANE Select) 0.334
ENST00000400191 0.334
ENST00000374632 0.334
ENST00000374627 0.334
gnomAD v2:
1:23233346 G / A
gnomAD v3:
1:22906853 G / A
gnomAD v4:
chr1-22906853-G-A
Joint Max Group AF 0.0064534 (NFE)
Genomes Max Group AF 0.00508051 (NFE)
Exomes Max Group AF 0.00651196 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.22906853G>A , CM000663.2:g.22906853G>A GRCh38
NC_000001.10:g.23233346G>A , CM000663.1:g.23233346G>A GRCh37
NC_000001.9:g.23105933G>A NCBI36
NG_011804.2:g.201016G>A , LRG_780:g.201016G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374630.8:c.2032G>A MANE Select ENSP00000363761.3:p.Asp678Asn
ENST00000374627.1:c.2017G>A ENSP00000363758.1:p.Asp673Asn
ENST00000374630.7:c.2032G>A ENSP00000363761.3:p.Asp678Asn
ENST00000374632.7:c.2035G>A ENSP00000363763.3:p.Asp679Asn
ENST00000400191.7:c.2032G>A ENSP00000383053.3:p.Asp678Asn
NM_001309192.1:c.1858G>A NP_001296121.1:p.Asp620Asn
NM_001309193.1:c.2032G>A NP_001296122.1:p.Asp678Asn
NM_004442.6:c.2035G>A NP_004433.2:p.Asp679Asn
NM_004442.7:c.2035G>A , LRG_780t1:c.2035G>A NP_004433.2:p.Asp679Asn
NM_017449.3:c.2032G>A NP_059145.2:p.Asp678Asn
NM_017449.4:c.2032G>A , LRG_780t2:c.2032G>A NP_059145.2:p.Asp678Asn
XM_006710441.2:c.2014G>A XP_006710504.1:p.Asp672Asn
XM_006710442.2:c.1942G>A XP_006710505.1:p.Asp648Asn
XM_011540976.1:c.709G>A XP_011539278.1:p.Asp237Asn
XM_006710441.4:c.2014G>A XP_006710504.1:p.Asp672Asn
XM_006710442.4:c.1942G>A XP_006710505.1:p.Asp648Asn
XM_024453895.1:c.709G>A XP_024309663.1:p.Asp237Asn
NM_001309192.2:c.1858G>A NP_001296121.1:p.Asp620Asn
NM_001309193.2:c.2032G>A NP_001296122.1:p.Asp678Asn
NM_017449.5:c.2032G>A MANE Select NP_059145.2:p.Asp678Asn
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