Linked Data
dbSNP Id:
rs1328909735
gnomAD v2:
2-203385243-T-TA
gnomAD v3:
2-202520520-T-TA
gnomAD v4:
2-202520520-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202520521dup , CM000664.2:g.202520521dup | GRCh38 |
| NC_000002.11:g.203385244dup , CM000664.1:g.203385244dup | GRCh37 |
| NC_000002.10:g.203093489dup | NCBI36 |
| NG_009363.1:g.149195dup , LRG_712:g.149195dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.967+320dup (BMPR2) MANE Select | ENSP00000363708.4:n.967+320dup | |
| ENST00000638587.1:c.898+320dup (BMPR2) | ENSP00000491062.1:n.898+320dup | |
| ENST00000374574.2:c.967+320dup (BMPR2) | ENSP00000363702.2:n.967+320dup | |
| ENST00000374580.8:c.967+320dup (BMPR2) | ENSP00000363708.4:n.967+320dup | |
| ENST00000435125.1:n.121dup (RPL13AP12) | ||
| NM_001204.6:c.967+320dup , LRG_712t1:c.967+320dup (BMPR2) | NP_001195.2:n.967+320dup | |
| XM_011511687.1:c.967+320dup (BMPR2) | XP_011509989.1:n.967+320dup | |
| XM_011511688.1:c.967+320dup (BMPR2) | XP_011509990.1:n.967+320dup | |
| NM_001204.7:c.967+320dup (BMPR2) MANE Select | NP_001195.2:n.967+320dup |