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.202532583A= | CA1321545645 | BMPR2 | c.1129-2A= (n.1129-2A=) c.1060-2A= (n.1060-2A=) | |
| 2 | g.202532583A>C | CA350341633 | BMPR2 | c.1129-2A>C (n.1129-2A>C) c.1060-2A>C (n.1060-2A>C) | |
| 2 | g.202532583A>G | CA350341634 | BMPR2 | c.1129-2A>G (n.1129-2A>G) c.1060-2A>G (n.1060-2A>G) | |
| 2 | g.202532583A>T | CA350341636 | BMPR2 | c.1129-2A>T (n.1129-2A>T) c.1060-2A>T (n.1060-2A>T) | ClinVar |
| 2 | g.202532584G>A | CA350341638 | BMPR2 | c.1129-1G>A (n.1129-1G>A) c.1060-1G>A (n.1060-1G>A) | COSMIC |
| 2 | g.202532584G>C | CA350341640 | BMPR2 | c.1129-1G>C (n.1129-1G>C) c.1060-1G>C (n.1060-1G>C) | |
| 2 | g.202532584G>T | CA350341642 | BMPR2 | c.1129-1G>T (n.1129-1G>T) c.1060-1G>T (n.1060-1G>T) | |
| 2 | g.202532584_202532585dup | CA645293821 | BMPR2 | c.1129-1_1129dup c.1060-1_1060dup | ClinVar dbSNP |
| 2 | g.202532585G>A | CA350341649 | BMPR2 | c.1129G>A (p.Val377Ile) c.1060G>A (p.Val354Ile) | |
| 2 | g.202532585G>C | CA350341645 | BMPR2 | c.1129G>C (p.Val377Leu) c.1060G>C (p.Val354Leu) | |
| 2 | g.202532585G>T | CA350341647 | BMPR2 | c.1129G>T (p.Val377Phe) c.1060G>T (p.Val354Phe) | |
| 2 | g.202532586T>A | CA350341650 | BMPR2 | c.1130T>A (p.Val377Asp) c.1061T>A (p.Val354Asp) | |
| 2 | g.202532586T>C | CA350341653 | BMPR2 | c.1130T>C (p.Val377Ala) c.1061T>C (p.Val354Ala) | |
| 2 | g.202532586T>G | CA350341655 | BMPR2 | c.1130T>G (p.Val377Gly) c.1061T>G (p.Val354Gly) | |
| 2 | g.202532587T>A | CA430849342 | BMPR2 | c.1131T>A (p.Val377=) c.1062T>A (p.Val354=) | |
| 2 | g.202532587T>C | CA430849343 | BMPR2 | c.1131T>C (p.Val377=) c.1062T>C (p.Val354=) | |
| 2 | g.202532587T>G | CA430849345 | BMPR2 | c.1131T>G (p.Val377=) c.1062T>G (p.Val354=) | |
| 2 | g.202532588G>A | CA350341657 | BMPR2 | c.1132G>A (p.Gly378Ser) c.1063G>A (p.Gly355Ser) | |
| 2 | g.202532588G>C | CA350341659 | BMPR2 | c.1132G>C (p.Gly378Arg) c.1063G>C (p.Gly355Arg) | |
| 2 | g.202532588G>T | CA350341661 | BMPR2 | c.1132G>T (p.Gly378Cys) c.1063G>T (p.Gly355Cys) | |
| 2 | g.202532589G>A | CA350341663 | BMPR2 | c.1133G>A (p.Gly378Asp) c.1064G>A (p.Gly355Asp) | dbSNP COSMIC |
| 2 | g.202532589G>C | CA350341665 | BMPR2 | c.1133G>C (p.Gly378Ala) c.1064G>C (p.Gly355Ala) | |
| 2 | g.202532589G= | CA1321545646 | BMPR2 | c.1133G= (p.Gly378=) c.1064G= (p.Gly355=) | |
| 2 | g.202532589G>T | CA350341667 | BMPR2 | c.1133G>T (p.Gly378Val) c.1064G>T (p.Gly355Val) | ClinVar dbSNP |
| 2 | g.202532590del | CA2662706310 | BMPR2 | c.1134del (p.Thr379LeufsTer10) c.1065del (p.Thr356LeufsTer10) | gnomAD v4 |
| 2 | g.202532590C>A | CA430849354 | BMPR2 | c.1134C>A (p.Gly378=) c.1065C>A (p.Gly355=) | |
| 2 | g.202532590C>G | CA430849356 | BMPR2 | c.1134C>G (p.Gly378=) c.1065C>G (p.Gly355=) | |
| 2 | g.202532590C>T | CA430849357 | BMPR2 | c.1134C>T (p.Gly378=) c.1065C>T (p.Gly355=) | |
| 2 | g.202532591A>C | CA350341670 | BMPR2 | c.1135A>C (p.Thr379Pro) c.1066A>C (p.Thr356Pro) | |
| 2 | g.202532591A>G | CA350341671 | BMPR2 | c.1135A>G (p.Thr379Ala) c.1066A>G (p.Thr356Ala) | |
| 2 | g.202532591A>T | CA350341673 | BMPR2 | c.1135A>T (p.Thr379Ser) c.1066A>T (p.Thr356Ser) | |
| 2 | g.202532592C>A | CA350341679 | BMPR2 | c.1136C>A (p.Thr379Asn) c.1067C>A (p.Thr356Asn) | |
| 2 | g.202532592C>G | CA350341677 | BMPR2 | c.1136C>G (p.Thr379Ser) c.1067C>G (p.Thr356Ser) | |
| 2 | g.202532592C>T | CA350341676 | BMPR2 | c.1136C>T (p.Thr379Ile) c.1067C>T (p.Thr356Ile) | |
| 2 | g.202532593T>A | CA430849367 | BMPR2 | c.1137T>A (p.Thr379=) c.1068T>A (p.Thr356=) | |
| 2 | g.202532593T>C | CA430849368 | BMPR2 | c.1137T>C (p.Thr379=) c.1068T>C (p.Thr356=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.202532593T>G | CA430849370 | BMPR2 | c.1137T>G (p.Thr379=) c.1068T>G (p.Thr356=) | |
| 2 | g.202532593T= | CA1321545647 | BMPR2 | c.1137T= (p.Thr379=) c.1068T= (p.Thr356=) | |
| 2 | g.202532594_202532595del | CA2586971098 | BMPR2 | c.1138_1139del (p.Ile380GlnfsTer18) c.1069_1070del (p.Ile357GlnfsTer18) | |
| 2 | g.202532594A>C | CA350341682 | BMPR2 | c.1138A>C (p.Ile380Leu) c.1069A>C (p.Ile357Leu) | |
| 2 | g.202532594A>G | CA350341683 | BMPR2 | c.1138A>G (p.Ile380Val) c.1069A>G (p.Ile357Val) | |
| 2 | g.202532594A>T | CA350341685 | BMPR2 | c.1138A>T (p.Ile380Phe) c.1069A>T (p.Ile357Phe) | |
| 2 | g.202532595T>A | CA350341688 | BMPR2 | c.1139T>A (p.Ile380Asn) c.1070T>A (p.Ile357Asn) | |
| 2 | g.202532595T>C | CA350341689 | BMPR2 | c.1139T>C (p.Ile380Thr) c.1070T>C (p.Ile357Thr) | dbSNP |
| 2 | g.202532595T>G | CA350341691 | BMPR2 | c.1139T>G (p.Ile380Ser) c.1070T>G (p.Ile357Ser) | |
| 2 | g.202532595T= | CA1321545648 | BMPR2 | c.1139T= (p.Ile380=) c.1070T= (p.Ile357=) | |
| 2 | g.202532595dup | CA2586971099 | BMPR2 | c.1139dup (p.Arg381GlnfsTer18) c.1070dup (p.Arg358GlnfsTer18) | |
| 2 | g.202532596C>A | CA430849382 | BMPR2 | c.1140C>A (p.Ile380=) c.1071C>A (p.Ile357=) | |
| 2 | g.202532596C= | CA1321545649 | BMPR2 | c.1140C= (p.Ile380=) c.1071C= (p.Ile357=) | |
| 2 | g.202532596C>G | CA350341694 | BMPR2 | c.1140C>G (p.Ile380Met) c.1071C>G (p.Ile357Met) | gnomAD v4 |