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.55482920C>A | CA395931337 | MMP2 | c.165C>A (p.Asn55Lys) c.15C>A (p.Asn5Lys) c.-64C>A (n.-64C>A) | |
| 16 | g.55482920C>G | CA395931338 | MMP2 | c.165C>G (p.Asn55Lys) c.15C>G (p.Asn5Lys) c.-64C>G (n.-64C>G) | |
| 16 | g.55482920C>T | CA495547675 | MMP2 | c.165C>T (p.Asn55=) c.15C>T (p.Asn5=) c.-64C>T (n.-64C>T) | |
| 16 | g.55482921A>C | CA395931339 | MMP2 | c.166A>C (p.Thr56Pro) c.16A>C (p.Thr6Pro) c.-63A>C (n.-63A>C) | |
| 16 | g.55482921A>G | CA395931340 | MMP2 | c.166A>G (p.Thr56Ala) c.16A>G (p.Thr6Ala) c.-63A>G (n.-63A>G) | |
| 16 | g.55482921A>T | CA395931341 | MMP2 | c.166A>T (p.Thr56Ser) c.16A>T (p.Thr6Ser) c.-63A>T (n.-63A>T) | |
| 16 | g.55482922C>A | CA395931342 | MMP2 | c.167C>A (p.Thr56Asn) c.17C>A (p.Thr6Asn) c.-62C>A (n.-62C>A) | |
| 16 | g.55482922C>G | CA395931343 | MMP2 | c.167C>G (p.Thr56Ser) c.17C>G (p.Thr6Ser) c.-62C>G (n.-62C>G) | |
| 16 | g.55482922C>T | CA395931344 | MMP2 | c.167C>T (p.Thr56Ile) c.17C>T (p.Thr6Ile) c.-62C>T (n.-62C>T) | |
| 16 | g.55482923C>A | CA495547676 | MMP2 | c.168C>A (p.Thr56=) c.18C>A (p.Thr6=) c.-61C>A (n.-61C>A) | |
| 16 | g.55482923C>G | CA495547678 | MMP2 | c.168C>G (p.Thr56=) c.18C>G (p.Thr6=) c.-61C>G (n.-61C>G) | |
| 16 | g.55482923C>T | CA495547677 | MMP2 | c.168C>T (p.Thr56=) c.18C>T (p.Thr6=) c.-61C>T (n.-61C>T) | |
| 16 | g.55482925_55482927del | CA2633277227 | MMP2 | c.170_172del (p.Phe57del) c.20_22del (p.Phe7del) c.-59_-57del (n.-59_-57del) | gnomAD v4 |
| 16 | g.55482924T>A | CA395931347 | MMP2 | c.169T>A (p.Phe57Ile) c.19T>A (p.Phe7Ile) c.-60T>A (n.-60T>A) | |
| 16 | g.55482924T>C | CA395931345 | MMP2 | c.169T>C (p.Phe57Leu) c.19T>C (p.Phe7Leu) c.-60T>C (n.-60T>C) | |
| 16 | g.55482924T>G | CA395931346 | MMP2 | c.169T>G (p.Phe57Val) c.19T>G (p.Phe7Val) c.-60T>G (n.-60T>G) | |
| 16 | g.55482925T>A | CA395931348 | MMP2 | c.170T>A (p.Phe57Tyr) c.20T>A (p.Phe7Tyr) c.-59T>A (n.-59T>A) | |
| 16 | g.55482925T>C | CA395931349 | MMP2 | c.170T>C (p.Phe57Ser) c.20T>C (p.Phe7Ser) c.-59T>C (n.-59T>C) | ClinVar |
| 16 | g.55482925T>G | CA395931350 | MMP2 | c.170T>G (p.Phe57Cys) c.20T>G (p.Phe7Cys) c.-59T>G (n.-59T>G) | |
| 16 | g.55482926C>A | CA395931351 | MMP2 | c.171C>A (p.Phe57Leu) c.21C>A (p.Phe7Leu) c.-58C>A (n.-58C>A) | |
| 16 | g.55482926C>G | CA395931352 | MMP2 | c.171C>G (p.Phe57Leu) c.21C>G (p.Phe7Leu) c.-58C>G (n.-58C>G) | |
| 16 | g.55482926C>T | CA495547679 | MMP2 | c.171C>T (p.Phe57=) c.21C>T (p.Phe7=) c.-58C>T (n.-58C>T) | |
| 16 | g.55482927T>A | CA395931353 | MMP2 | c.172T>A (p.Tyr58Asn) c.22T>A (p.Tyr8Asn) c.-57T>A (n.-57T>A) | |
| 16 | g.55482927T>C | CA395931355 | MMP2 | c.172T>C (p.Tyr58His) c.22T>C (p.Tyr8His) c.-57T>C (n.-57T>C) | |
| 16 | g.55482927T>G | CA395931354 | MMP2 | c.172T>G (p.Tyr58Asp) c.22T>G (p.Tyr8Asp) c.-57T>G (n.-57T>G) | |
| 16 | g.55482928A>C | CA395931356 | MMP2 | c.173A>C (p.Tyr58Ser) c.23A>C (p.Tyr8Ser) c.-56A>C (n.-56A>C) | |
| 16 | g.55482928A>G | CA395931357 | MMP2 | c.173A>G (p.Tyr58Cys) c.23A>G (p.Tyr8Cys) c.-56A>G (n.-56A>G) | gnomAD v4 |
| 16 | g.55482928A>T | CA395931358 | MMP2 | c.173A>T (p.Tyr58Phe) c.23A>T (p.Tyr8Phe) c.-56A>T (n.-56A>T) | |
| 16 | g.55482929T>A | CA395931359 | MMP2 | c.174T>A (p.Tyr58Ter) c.24T>A (p.Tyr8Ter) c.-55T>A (n.-55T>A) | |
| 16 | g.55482929T>C | CA495547680 | MMP2 | c.174T>C (p.Tyr58=) c.24T>C (p.Tyr8=) c.-55T>C (n.-55T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.55482929T>G | CA395931360 | MMP2 | c.174T>G (p.Tyr58Ter) c.24T>G (p.Tyr8Ter) c.-55T>G (n.-55T>G) | |
| 16 | g.55482929T= | CA2223710370 | MMP2 | c.174T= (p.Tyr58=) c.24T= (p.Tyr8=) c.-55T= (n.-55T=) | |
| 16 | g.55482930G>A | CA395931361 | MMP2 | c.175G>A (p.Gly59Ser) c.25G>A (p.Gly9Ser) c.-54G>A (n.-54G>A) | |
| 16 | g.55482930G>C | CA395931362 | MMP2 | c.175G>C (p.Gly59Arg) c.25G>C (p.Gly9Arg) c.-54G>C (n.-54G>C) | |
| 16 | g.55482930G>T | CA395931363 | MMP2 | c.175G>T (p.Gly59Cys) c.25G>T (p.Gly9Cys) c.-54G>T (n.-54G>T) | |
| 16 | g.55482931G>A | CA8060021 | MMP2 | c.176G>A (p.Gly59Asp) c.26G>A (p.Gly9Asp) c.-53G>A (n.-53G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.55482931G>C | CA395931364 | MMP2 | c.176G>C (p.Gly59Ala) c.26G>C (p.Gly9Ala) c.-53G>C (n.-53G>C) | |
| 16 | g.55482931G= | CA2223710371 | MMP2 | c.176G= (p.Gly59=) c.26G= (p.Gly9=) c.-53G= (n.-53G=) | |
| 16 | g.55482931G>T | CA395931365 | MMP2 | c.176G>T (p.Gly59Val) c.26G>T (p.Gly9Val) c.-53G>T (n.-53G>T) | |
| 16 | g.55482932C>A | CA495547681 | MMP2 | c.177C>A (p.Gly59=) c.27C>A (p.Gly9=) c.-52C>A (n.-52C>A) | |
| 16 | g.55482932C>G | CA495547682 | MMP2 | c.177C>G (p.Gly59=) c.27C>G (p.Gly9=) c.-52C>G (n.-52C>G) | gnomAD v4 |
| 16 | g.55482932C>T | CA495547683 | MMP2 | c.177C>T (p.Gly59=) c.27C>T (p.Gly9=) c.-52C>T (n.-52C>T) | |
| 16 | g.55482933T>A | CA395931367 | MMP2 | c.178T>A (p.Cys60Ser) c.28T>A (p.Cys10Ser) c.-51T>A (n.-51T>A) | |
| 16 | g.55482933T>C | CA395931368 | MMP2 | c.178T>C (p.Cys60Arg) c.28T>C (p.Cys10Arg) c.-51T>C (n.-51T>C) | |
| 16 | g.55482933T>G | CA395931366 | MMP2 | c.178T>G (p.Cys60Gly) c.28T>G (p.Cys10Gly) c.-51T>G (n.-51T>G) | |
| 16 | g.55482934G>A | CA395931369 | MMP2 | c.179G>A (p.Cys60Tyr) c.29G>A (p.Cys10Tyr) c.-50G>A (n.-50G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.55482934G>C | CA395931371 | MMP2 | c.179G>C (p.Cys60Ser) c.29G>C (p.Cys10Ser) c.-50G>C (n.-50G>C) | |
| 16 | g.55482934G= | CA2223710372 | MMP2 | c.179G= (p.Cys60=) c.29G= (p.Cys10=) c.-50G= (n.-50G=) | |
| 16 | g.55482934G>T | CA395931370 | MMP2 | c.179G>T (p.Cys60Phe) c.29G>T (p.Cys10Phe) c.-50G>T (n.-50G>T) | gnomAD v4 |