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 |
|---|---|---|---|---|---|
| 16 | g.55481417_55483075del | CA916083493 | MMP2 | c.154-1492_320del c.-76+820_92del c.-76+1362_92del c.-75-1492_92del | ClinVar |
| 16 | g.55483019_55483020delinsTC | CA2223710406 | MMP2 | c.264_265delinsTC (p.Asp88=) c.114_115delinsTC (p.Asp38=) c.36_37delinsTC (p.Asp12=) | |
| 16 | g.55483020del | CA201631 | MMP2 | c.265del (p.Asp90ThrfsTer?) c.115del (p.Asp40ThrfsTer?) c.37del (p.Asp14ThrfsTer?) | ClinVar dbSNP |
| 16 | g.55483020C>A | CA395931565 | MMP2 | c.265C>A (p.Leu89Ile) c.115C>A (p.Leu39Ile) c.37C>A (p.Leu13Ile) | |
| 16 | g.55483020C>G | CA395931566 | MMP2 | c.265C>G (p.Leu89Val) c.115C>G (p.Leu39Val) c.37C>G (p.Leu13Val) | |
| 16 | g.55483020C>T | CA395931567 | MMP2 | c.265C>T (p.Leu89Phe) c.115C>T (p.Leu39Phe) c.37C>T (p.Leu13Phe) | dbSNP |
| 16 | g.55483021T>A | CA395931568 | MMP2 | c.266T>A (p.Leu89His) c.116T>A (p.Leu39His) c.38T>A (p.Leu13His) | |
| 16 | g.55483021T>C | CA395931569 | MMP2 | c.266T>C (p.Leu89Pro) c.116T>C (p.Leu39Pro) c.38T>C (p.Leu13Pro) | |
| 16 | g.55483021T>G | CA395931570 | MMP2 | c.266T>G (p.Leu89Arg) c.116T>G (p.Leu39Arg) c.38T>G (p.Leu13Arg) | |
| 16 | g.55483022T>A | CA495547733 | MMP2 | c.267T>A (p.Leu89=) c.117T>A (p.Leu39=) c.39T>A (p.Leu13=) | |
| 16 | g.55483022T>C | CA495547734 | MMP2 | c.267T>C (p.Leu89=) c.117T>C (p.Leu39=) c.39T>C (p.Leu13=) | COSMIC |
| 16 | g.55483022T>G | CA495547735 | MMP2 | c.267T>G (p.Leu89=) c.117T>G (p.Leu39=) c.39T>G (p.Leu13=) | |
| 16 | g.55483023G>A | CA395931571 | MMP2 | c.268G>A (p.Asp90Asn) c.118G>A (p.Asp40Asn) c.40G>A (p.Asp14Asn) | |
| 16 | g.55483023G>C | CA395931572 | MMP2 | c.268G>C (p.Asp90His) c.118G>C (p.Asp40His) c.40G>C (p.Asp14His) | |
| 16 | g.55483023G>T | CA395931573 | MMP2 | c.268G>T (p.Asp90Tyr) c.118G>T (p.Asp40Tyr) c.40G>T (p.Asp14Tyr) | |
| 16 | g.55483024A= | CA2223710407 | MMP2 | c.269A= (p.Asp90=) c.119A= (p.Asp40=) c.41A= (p.Asp14=) | |
| 16 | g.55483024A>C | CA395931574 | MMP2 | c.269A>C (p.Asp90Ala) c.119A>C (p.Asp40Ala) c.41A>C (p.Asp14Ala) | |
| 16 | g.55483024A>G | CA395931576 | MMP2 | c.269A>G (p.Asp90Gly) c.119A>G (p.Asp40Gly) c.41A>G (p.Asp14Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.55483024A>T | CA395931575 | MMP2 | c.269A>T (p.Asp90Val) c.119A>T (p.Asp40Val) c.41A>T (p.Asp14Val) | |
| 16 | g.55483025C>A | CA395931577 | MMP2 | c.270C>A (p.Asp90Glu) c.120C>A (p.Asp40Glu) c.42C>A (p.Asp14Glu) | |
| 16 | g.55483025C>G | CA395931578 | MMP2 | c.270C>G (p.Asp90Glu) c.120C>G (p.Asp40Glu) c.42C>G (p.Asp14Glu) | |
| 16 | g.55483025C>T | CA495547736 | MMP2 | c.270C>T (p.Asp90=) c.120C>T (p.Asp40=) c.42C>T (p.Asp14=) | |
| 16 | g.55483026C>A | CA395931579 | MMP2 | c.271C>A (p.Gln91Lys) c.121C>A (p.Gln41Lys) c.43C>A (p.Gln15Lys) | |
| 16 | g.55483026C= | CA2223710408 | MMP2 | c.271C= (p.Gln91=) c.121C= (p.Gln41=) c.43C= (p.Gln15=) | |
| 16 | g.55483026C>G | CA395931580 | MMP2 | c.271C>G (p.Gln91Glu) c.121C>G (p.Gln41Glu) c.43C>G (p.Gln15Glu) | |
| 16 | g.55483026C>T | CA395931581 | MMP2 | c.271C>T (p.Gln91Ter) c.121C>T (p.Gln41Ter) c.43C>T (p.Gln15Ter) | dbSNP gnomAD v4 |
| 16 | g.55483027A= | CA2223710409 | MMP2 | c.272A= (p.Gln91=) c.122A= (p.Gln41=) c.44A= (p.Gln15=) | |
| 16 | g.55483027A>C | CA395931582 | MMP2 | c.272A>C (p.Gln91Pro) c.122A>C (p.Gln41Pro) c.44A>C (p.Gln15Pro) | |
| 16 | g.55483027A>G | CA395931583 | MMP2 | c.272A>G (p.Gln91Arg) c.122A>G (p.Gln41Arg) c.44A>G (p.Gln15Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.55483027A>T | CA395931584 | MMP2 | c.272A>T (p.Gln91Leu) c.122A>T (p.Gln41Leu) c.44A>T (p.Gln15Leu) | |
| 16 | g.55483028G>A | CA495547737 | MMP2 | c.273G>A (p.Gln91=) c.123G>A (p.Gln41=) c.45G>A (p.Gln15=) | |
| 16 | g.55483028G>C | CA395931585 | MMP2 | c.273G>C (p.Gln91His) c.123G>C (p.Gln41His) c.45G>C (p.Gln15His) | |
| 16 | g.55483028G>T | CA395931586 | MMP2 | c.273G>T (p.Gln91His) c.123G>T (p.Gln41His) c.45G>T (p.Gln15His) | |
| 16 | g.55483029A>C | CA395931587 | MMP2 | c.274A>C (p.Asn92His) c.124A>C (p.Asn42His) c.46A>C (p.Asn16His) | |
| 16 | g.55483029A>G | CA395931588 | MMP2 | c.274A>G (p.Asn92Asp) c.124A>G (p.Asn42Asp) c.46A>G (p.Asn16Asp) | |
| 16 | g.55483029A>T | CA395931589 | MMP2 | c.274A>T (p.Asn92Tyr) c.124A>T (p.Asn42Tyr) c.46A>T (p.Asn16Tyr) | |
| 16 | g.55483030A= | CA2223710410 | MMP2 | c.275A= (p.Asn92=) c.125A= (p.Asn42=) c.47A= (p.Asn16=) | |
| 16 | g.55483030A>C | CA395931591 | MMP2 | c.275A>C (p.Asn92Thr) c.125A>C (p.Asn42Thr) c.47A>C (p.Asn16Thr) | gnomAD v4 |
| 16 | g.55483030A>G | CA8060033 | MMP2 | c.275A>G (p.Asn92Ser) c.125A>G (p.Asn42Ser) c.47A>G (p.Asn16Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.55483030A>T | CA395931590 | MMP2 | c.275A>T (p.Asn92Ile) c.125A>T (p.Asn42Ile) c.47A>T (p.Asn16Ile) | |
| 16 | g.55483031T>A | CA395931592 | MMP2 | c.276T>A (p.Asn92Lys) c.126T>A (p.Asn42Lys) c.48T>A (p.Asn16Lys) | |
| 16 | g.55483031T>C | CA495547738 | MMP2 | c.276T>C (p.Asn92=) c.126T>C (p.Asn42=) c.48T>C (p.Asn16=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.55483031T>G | CA395931593 | MMP2 | c.276T>G (p.Asn92Lys) c.126T>G (p.Asn42Lys) c.48T>G (p.Asn16Lys) | |
| 16 | g.55483031T= | CA2223710411 | MMP2 | c.276T= (p.Asn92=) c.126T= (p.Asn42=) c.48T= (p.Asn16=) | |
| 16 | g.55483032A>C | CA395931594 | MMP2 | c.277A>C (p.Thr93Pro) c.127A>C (p.Thr43Pro) c.49A>C (p.Thr17Pro) | |
| 16 | g.55483032A>G | CA395931595 | MMP2 | c.277A>G (p.Thr93Ala) c.127A>G (p.Thr43Ala) c.49A>G (p.Thr17Ala) | |
| 16 | g.55483032A>T | CA395931596 | MMP2 | c.277A>T (p.Thr93Ser) c.127A>T (p.Thr43Ser) c.49A>T (p.Thr17Ser) | |
| 16 | g.55483033C>A | CA395931597 | MMP2 | c.278C>A (p.Thr93Asn) c.128C>A (p.Thr43Asn) c.50C>A (p.Thr17Asn) | |
| 16 | g.55483033C>G | CA395931598 | MMP2 | c.278C>G (p.Thr93Ser) c.128C>G (p.Thr43Ser) c.50C>G (p.Thr17Ser) | |
| 16 | g.55483033C>T | CA395931599 | MMP2 | c.278C>T (p.Thr93Ile) c.128C>T (p.Thr43Ile) c.50C>T (p.Thr17Ile) | dbSNP COSMIC |