UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202547085_202553904del | CA915941655 | BMPR2 | c.1413+4638_1586+1016del c.1344+4638_1517+1016del | ClinVar |
| 2 | g.202552727_202552752delinsACTCAAGGAGACAATCGAAGACTGTT | CA1321556402 | BMPR2 | c.1425_1450delinsACTCAAGGAGACAATCGAAGACTGTT (p.Ser475=) c.1356_1381delinsACTCAAGGAGACAATCGAAGACTGTT (p.Ser452=) | |
| 2 | g.202552728_202552752del | CA320979 | BMPR2 | c.1426_1450del (p.Leu476GlyfsTer22) c.1357_1381del (p.Leu453GlyfsTer22) | ClinVar dbSNP |
| 2 | g.202552734G>A | CA350344439 | BMPR2 | c.1432G>A (p.Glu478Lys) c.1363G>A (p.Glu455Lys) | |
| 2 | g.202552734G>C | CA350344440 | BMPR2 | c.1432G>C (p.Glu478Gln) c.1363G>C (p.Glu455Gln) | |
| 2 | g.202552734G= | CA1321556428 | BMPR2 | c.1432G= (p.Glu478=) c.1363G= (p.Glu455=) | |
| 2 | g.202552734G>T | CA350344441 | BMPR2 | c.1432G>T (p.Glu478Ter) c.1363G>T (p.Glu455Ter) | ClinVar dbSNP |
| 2 | g.202552735A>C | CA350344442 | BMPR2 | c.1433A>C (p.Glu478Ala) c.1364A>C (p.Glu455Ala) | |
| 2 | g.202552735A>G | CA350344443 | BMPR2 | c.1433A>G (p.Glu478Gly) c.1364A>G (p.Glu455Gly) | |
| 2 | g.202552735A>T | CA350344444 | BMPR2 | c.1433A>T (p.Glu478Val) c.1364A>T (p.Glu455Val) | |
| 2 | g.202552736G>A | CA430859591 | BMPR2 | c.1434G>A (p.Glu478=) c.1365G>A (p.Glu455=) | |
| 2 | g.202552736G>C | CA350344445 | BMPR2 | c.1434G>C (p.Glu478Asp) c.1365G>C (p.Glu455Asp) | |
| 2 | g.202552736G>T | CA350344446 | BMPR2 | c.1434G>T (p.Glu478Asp) c.1365G>T (p.Glu455Asp) | |
| 2 | g.202552737A= | CA1321556433 | BMPR2 | c.1435A= (p.Thr479=) c.1366A= (p.Thr456=) | |
| 2 | g.202552737A>C | CA350344447 | BMPR2 | c.1435A>C (p.Thr479Pro) c.1366A>C (p.Thr456Pro) | dbSNP |
| 2 | g.202552737A>G | CA350344448 | BMPR2 | c.1435A>G (p.Thr479Ala) c.1366A>G (p.Thr456Ala) | gnomAD v4 |
| 2 | g.202552737A>T | CA350344449 | BMPR2 | c.1435A>T (p.Thr479Ser) c.1366A>T (p.Thr456Ser) | |
| 2 | g.202552738C>A | CA350344452 | BMPR2 | c.1436C>A (p.Thr479Lys) c.1367C>A (p.Thr456Lys) | |
| 2 | g.202552738C>G | CA350344451 | BMPR2 | c.1436C>G (p.Thr479Arg) c.1367C>G (p.Thr456Arg) | |
| 2 | g.202552738C>T | CA350344450 | BMPR2 | c.1436C>T (p.Thr479Ile) c.1367C>T (p.Thr456Ile) | |
| 2 | g.202552739A>C | CA430859605 | BMPR2 | c.1437A>C (p.Thr479=) c.1368A>C (p.Thr456=) | |
| 2 | g.202552739A>G | CA430859608 | BMPR2 | c.1437A>G (p.Thr479=) c.1368A>G (p.Thr456=) | |
| 2 | g.202552739A>T | CA430859612 | BMPR2 | c.1437A>T (p.Thr479=) c.1368A>T (p.Thr456=) | |
| 2 | g.202552740A= | CA1321556436 | BMPR2 | c.1438A= (p.Ile480=) c.1369A= (p.Ile457=) | |
| 2 | g.202552740A>C | CA350344453 | BMPR2 | c.1438A>C (p.Ile480Leu) c.1369A>C (p.Ile457Leu) | |
| 2 | g.202552740A>G | CA2061378 | BMPR2 | c.1438A>G (p.Ile480Val) c.1369A>G (p.Ile457Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.202552740A>T | CA350344454 | BMPR2 | c.1438A>T (p.Ile480Phe) c.1369A>T (p.Ile457Phe) | |
| 2 | g.202552741T>A | CA350344455 | BMPR2 | c.1439T>A (p.Ile480Asn) c.1370T>A (p.Ile457Asn) | |
| 2 | g.202552741T>C | CA350344456 | BMPR2 | c.1439T>C (p.Ile480Thr) c.1370T>C (p.Ile457Thr) | dbSNP |
| 2 | g.202552741T>G | CA350344457 | BMPR2 | c.1439T>G (p.Ile480Ser) c.1370T>G (p.Ile457Ser) | |
| 2 | g.202552741T= | CA1321556439 | BMPR2 | c.1439T= (p.Ile480=) c.1370T= (p.Ile457=) | |
| 2 | g.202552742C>A | CA430859622 | BMPR2 | c.1440C>A (p.Ile480=) c.1371C>A (p.Ile457=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.202552742C= | CA1321556441 | BMPR2 | c.1440C= (p.Ile480=) c.1371C= (p.Ile457=) | |
| 2 | g.202552742C>G | CA350344458 | BMPR2 | c.1440C>G (p.Ile480Met) c.1371C>G (p.Ile457Met) | |
| 2 | g.202552742C>T | CA2061379 | BMPR2 | c.1440C>T (p.Ile480=) c.1371C>T (p.Ile457=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.202552742_202552745delinsCGAA | CA1321556443 | BMPR2 | c.1440_1443delinsCGAA (p.Ile480=) c.1371_1374delinsCGAA (p.Ile457=) | |
| 2 | g.202552743G>A | CA64041071 | BMPR2 | c.1441G>A (p.Glu481Lys) c.1372G>A (p.Glu458Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.202552743G>C | CA350344459 | BMPR2 | c.1441G>C (p.Glu481Gln) c.1372G>C (p.Glu458Gln) | |
| 2 | g.202552743G= | CA1321556447 | BMPR2 | c.1441G= (p.Glu481=) c.1372G= (p.Glu458=) | |
| 2 | g.202552743G>T | CA350344460 | BMPR2 | c.1441G>T (p.Glu481Ter) c.1372G>T (p.Glu458Ter) | ClinVar dbSNP |
| 2 | g.202552745_202552747del | CA10587994 | BMPR2 | c.1443_1445del (p.Glu481del) c.1374_1376del (p.Glu458del) | ClinVar dbSNP |
| 2 | g.202552744A= | CA1321556451 | BMPR2 | c.1442A= (p.Glu481=) c.1373A= (p.Glu458=) | |
| 2 | g.202552744A>C | CA350344461 | BMPR2 | c.1442A>C (p.Glu481Ala) c.1373A>C (p.Glu458Ala) | |
| 2 | g.202552744A>G | CA350344462 | BMPR2 | c.1442A>G (p.Glu481Gly) c.1373A>G (p.Glu458Gly) | dbSNP |
| 2 | g.202552744A>T | CA350344463 | BMPR2 | c.1442A>T (p.Glu481Val) c.1373A>T (p.Glu458Val) | |
| 2 | g.202552745A>C | CA350344464 | BMPR2 | c.1443A>C (p.Glu481Asp) c.1374A>C (p.Glu458Asp) | |
| 2 | g.202552745A>G | CA430859639 | BMPR2 | c.1443A>G (p.Glu481=) c.1374A>G (p.Glu458=) | |
| 2 | g.202552745A>T | CA350344465 | BMPR2 | c.1443A>T (p.Glu481Asp) c.1374A>T (p.Glu458Asp) | |
| 2 | g.202552746G>A | CA350344466 | BMPR2 | c.1444G>A (p.Asp482Asn) c.1375G>A (p.Asp459Asn) | |
| 2 | g.202552746G>C | CA350344467 | BMPR2 | c.1444G>C (p.Asp482His) c.1375G>C (p.Asp459His) |