ClinVar

NM_017449.5(EPHB2):c.2034C>A (p.Asp678Glu)

Gene:

EPHB2:EPH receptor B2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 22906855 (on Assembly GRCh38)
• Chr1: 23233348 (on Assembly GRCh37)

Preferred name:

NM_017449.5(EPHB2):c.2034C>A (p.Asp678Glu)

HGVS:

• NC_000001.11:g.22906855C>A
• NG_011804.2:g.201018C>A
• NM_001309192.2:c.1860C>A
• NM_001309193.2:c.2034C>A
• NM_004442.7:c.2037C>A
• NM_017449.5:c.2034C>AMANE SELECT
• NP_001296121.1:p.Asp620Glu
• NP_001296122.1:p.Asp678Glu
• NP_004433.2:p.Asp679Glu
• NP_059145.2:p.Asp678Glu
• NP_059145.2:p.Asp678Glu
• LRG_780t1:c.2037C>A
• LRG_780t2:c.2034C>A
• LRG_780:g.201018C>A
• LRG_780p1:p.Asp679Glu
• LRG_780p2:p.Asp678Glu
• NC_000001.10:g.23233348C>A
• NM_017449.3:c.2034C>A
• NM_017449.4:c.2034C>A

This HGVS expression did not pass validation

Protein change:

D620E

Molecular consequence:

• NM_001309192.2:c.1860C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001309193.2:c.2034C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004442.7:c.2037C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017449.5:c.2034C>A - missense variant - [Sequence Ontology: SO:0001583]