Assay Details
Target Gene Details
Entrez Gene ID: | 659 |
Gene Name: | bone morphogenetic protein receptor type 2 |
Gene Aliases: |
BMPR-II, BMPR3, BMR2, BRK-3, POVD1, PPH1, T-ALK |
Location: |
Chr.2:202376310-202567751 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BMPR2 | NM_001204.6 | 1 | 796 | NP_001195.2 |
XM_011511687.1 | 1 | 813 | XP_011509989.1 | |
AK292430.1 | 1 | 62 | ||
BC052985.2 | 1 | 222 | AAH52985.1 | |
BU176845.1 | 1 | 753 | ||
D50516.1 | 1 | 56 | BAA09094.1 | |
Z48923.1 | 1 | 29 | CAA88759.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1007686 | Chr.2:202370673 - 202421699 on Build GRCh38 | Loss | BMPR2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |