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.55491807G>A | CA395936501 | MMP2 | c.1187G>A (p.Ser396Asn) c.1037G>A (p.Ser346Asn) c.959G>A (p.Ser320Asn) c.62G>A (p.Ser21Asn) | gnomAD v4 |
| 16 | g.55491807G>C | CA395936502 | MMP2 | c.1187G>C (p.Ser396Thr) c.1037G>C (p.Ser346Thr) c.959G>C (p.Ser320Thr) c.62G>C (p.Ser21Thr) | |
| 16 | g.55491807G>T | CA395936503 | MMP2 | c.1187G>T (p.Ser396Ile) c.1037G>T (p.Ser346Ile) c.959G>T (p.Ser320Ile) c.62G>T (p.Ser21Ile) | |
| 16 | g.55491808C>A | CA8060349 | MMP2 | c.1188C>A (p.Ser396Arg) c.1038C>A (p.Ser346Arg) c.960C>A (p.Ser320Arg) c.63C>A (p.Ser21Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.55491808C= | CA2223714647 | MMP2 | c.1188C= (p.Ser396=) c.1038C= (p.Ser346=) c.960C= (p.Ser320=) c.63C= (p.Ser21=) | |
| 16 | g.55491808C>G | CA395936504 | MMP2 | c.1188C>G (p.Ser396Arg) c.1038C>G (p.Ser346Arg) c.960C>G (p.Ser320Arg) c.63C>G (p.Ser21Arg) | |
| 16 | g.55491808C>T | CA495549041 | MMP2 | c.1188C>T (p.Ser396=) c.1038C>T (p.Ser346=) c.960C>T (p.Ser320=) c.63C>T (p.Ser21=) | dbSNP |
| 16 | g.55491809C>A | CA395936505 | MMP2 | c.1189C>A (p.Leu397Met) c.1039C>A (p.Leu347Met) c.961C>A (p.Leu321Met) c.64C>A (p.Leu22Met) | |
| 16 | g.55491809C>G | CA395936506 | MMP2 | c.1189C>G (p.Leu397Val) c.1039C>G (p.Leu347Val) c.961C>G (p.Leu321Val) c.64C>G (p.Leu22Val) | gnomAD v4 |
| 16 | g.55491809C>T | CA495549042 | MMP2 | c.1189C>T (p.Leu397=) c.1039C>T (p.Leu347=) c.961C>T (p.Leu321=) c.64C>T (p.Leu22=) | gnomAD v4 |
| 16 | g.55491810T>A | CA395936507 | MMP2 | c.1190T>A (p.Leu397Gln) c.1040T>A (p.Leu347Gln) c.962T>A (p.Leu321Gln) c.65T>A (p.Leu22Gln) | |
| 16 | g.55491810T>C | CA395936508 | MMP2 | c.1190T>C (p.Leu397Pro) c.1040T>C (p.Leu347Pro) c.962T>C (p.Leu321Pro) c.65T>C (p.Leu22Pro) | |
| 16 | g.55491810T>G | CA395936509 | MMP2 | c.1190T>G (p.Leu397Arg) c.1040T>G (p.Leu347Arg) c.962T>G (p.Leu321Arg) c.65T>G (p.Leu22Arg) | |
| 16 | g.55491811G>A | CA8060350 | MMP2 | c.1191G>A (p.Leu397=) c.1041G>A (p.Leu347=) c.963G>A (p.Leu321=) c.66G>A (p.Leu22=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.55491811G>C | CA495549044 | MMP2 | c.1191G>C (p.Leu397=) c.1041G>C (p.Leu347=) c.963G>C (p.Leu321=) c.66G>C (p.Leu22=) | |
| 16 | g.55491811G= | CA2223714648 | MMP2 | c.1191G= (p.Leu397=) c.1041G= (p.Leu347=) c.963G= (p.Leu321=) c.66G= (p.Leu22=) | |
| 16 | g.55491811G>T | CA495549043 | MMP2 | c.1191G>T (p.Leu397=) c.1041G>T (p.Leu347=) c.963G>T (p.Leu321=) c.66G>T (p.Leu22=) | |
| 16 | g.55491812T>A | CA395936512 | MMP2 | c.1192T>A (p.Phe398Ile) c.1042T>A (p.Phe348Ile) c.964T>A (p.Phe322Ile) c.67T>A (p.Phe23Ile) | |
| 16 | g.55491812T>C | CA395936511 | MMP2 | c.1192T>C (p.Phe398Leu) c.1042T>C (p.Phe348Leu) c.964T>C (p.Phe322Leu) c.67T>C (p.Phe23Leu) | gnomAD v4 |
| 16 | g.55491812T>G | CA395936510 | MMP2 | c.1192T>G (p.Phe398Val) c.1042T>G (p.Phe348Val) c.964T>G (p.Phe322Val) c.67T>G (p.Phe23Val) | |
| 16 | g.55491813T>A | CA395936513 | MMP2 | c.1193T>A (p.Phe398Tyr) c.1043T>A (p.Phe348Tyr) c.965T>A (p.Phe322Tyr) c.68T>A (p.Phe23Tyr) | |
| 16 | g.55491813T>C | CA395936514 | MMP2 | c.1193T>C (p.Phe398Ser) c.1043T>C (p.Phe348Ser) c.965T>C (p.Phe322Ser) c.68T>C (p.Phe23Ser) | |
| 16 | g.55491813T>G | CA395936515 | MMP2 | c.1193T>G (p.Phe398Cys) c.1043T>G (p.Phe348Cys) c.965T>G (p.Phe322Cys) c.68T>G (p.Phe23Cys) | |
| 16 | g.55491814C>A | CA395936516 | MMP2 | c.1194C>A (p.Phe398Leu) c.1044C>A (p.Phe348Leu) c.966C>A (p.Phe322Leu) c.69C>A (p.Phe23Leu) | |
| 16 | g.55491814C>G | CA395936517 | MMP2 | c.1194C>G (p.Phe398Leu) c.1044C>G (p.Phe348Leu) c.966C>G (p.Phe322Leu) c.69C>G (p.Phe23Leu) | |
| 16 | g.55491814C>T | CA495549045 | MMP2 | c.1194C>T (p.Phe398=) c.1044C>T (p.Phe348=) c.966C>T (p.Phe322=) c.69C>T (p.Phe23=) | gnomAD v4 |
| 16 | g.55491815C>A | CA395936518 | MMP2 | c.1195C>A (p.Leu399Ile) c.1045C>A (p.Leu349Ile) c.967C>A (p.Leu323Ile) c.70C>A (p.Leu24Ile) | |
| 16 | g.55491815C= | CA2223714649 | MMP2 | c.1195C= (p.Leu399=) c.1045C= (p.Leu349=) c.967C= (p.Leu323=) c.70C= (p.Leu24=) | |
| 16 | g.55491815C>G | CA395936519 | MMP2 | c.1195C>G (p.Leu399Val) c.1045C>G (p.Leu349Val) c.967C>G (p.Leu323Val) c.70C>G (p.Leu24Val) | dbSNP gnomAD v2 |
| 16 | g.55491815C>T | CA395936520 | MMP2 | c.1195C>T (p.Leu399Phe) c.1045C>T (p.Leu349Phe) c.967C>T (p.Leu323Phe) c.70C>T (p.Leu24Phe) | |
| 16 | g.55491816T>A | CA395936521 | MMP2 | c.1196T>A (p.Leu399His) c.1046T>A (p.Leu349His) c.968T>A (p.Leu323His) c.71T>A (p.Leu24His) | |
| 16 | g.55491816T>C | CA395936523 | MMP2 | c.1196T>C (p.Leu399Pro) c.1046T>C (p.Leu349Pro) c.968T>C (p.Leu323Pro) c.71T>C (p.Leu24Pro) | |
| 16 | g.55491816T>G | CA395936522 | MMP2 | c.1196T>G (p.Leu399Arg) c.1046T>G (p.Leu349Arg) c.968T>G (p.Leu323Arg) c.71T>G (p.Leu24Arg) | |
| 16 | g.55491817C>A | CA495549046 | MMP2 | c.1197C>A (p.Leu399=) c.1047C>A (p.Leu349=) c.969C>A (p.Leu323=) c.72C>A (p.Leu24=) | gnomAD v4 |
| 16 | g.55491817C= | CA2223714650 | MMP2 | c.1197C= (p.Leu399=) c.1047C= (p.Leu349=) c.969C= (p.Leu323=) c.72C= (p.Leu24=) | |
| 16 | g.55491817C>G | CA495549047 | MMP2 | c.1197C>G (p.Leu399=) c.1047C>G (p.Leu349=) c.969C>G (p.Leu323=) c.72C>G (p.Leu24=) | |
| 16 | g.55491817C>T | CA8060351 | MMP2 | c.1197C>T (p.Leu399=) c.1047C>T (p.Leu349=) c.969C>T (p.Leu323=) c.72C>T (p.Leu24=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.55491818G>A | CA8060352 | MMP2 | c.1198G>A (p.Val400Met) c.1048G>A (p.Val350Met) c.970G>A (p.Val324Met) c.73G>A (p.Val25Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.55491818G>C | CA395936524 | MMP2 | c.1198G>C (p.Val400Leu) c.1048G>C (p.Val350Leu) c.970G>C (p.Val324Leu) c.73G>C (p.Val25Leu) | COSMIC |
| 16 | g.55491818G= | CA2223714651 | MMP2 | c.1198G= (p.Val400=) c.1048G= (p.Val350=) c.970G= (p.Val324=) c.73G= (p.Val25=) | |
| 16 | g.55491818G>T | CA395936525 | MMP2 | c.1198G>T (p.Val400Leu) c.1048G>T (p.Val350Leu) c.970G>T (p.Val324Leu) c.73G>T (p.Val25Leu) | |
| 16 | g.55491819_55491821del | CA2580091620 | MMP2 | c.1199_1201del (p.Val400del) c.1049_1051del (p.Val350del) c.971_973del (p.Val324del) c.74_76del (p.Val25del) | ClinVar dbSNP |
| 16 | g.55491819T>A | CA395936526 | MMP2 | c.1199T>A (p.Val400Glu) c.1049T>A (p.Val350Glu) c.971T>A (p.Val324Glu) c.74T>A (p.Val25Glu) | |
| 16 | g.55491819T>C | CA395936528 | MMP2 | c.1199T>C (p.Val400Ala) c.1049T>C (p.Val350Ala) c.971T>C (p.Val324Ala) c.74T>C (p.Val25Ala) | |
| 16 | g.55491819T>G | CA395936527 | MMP2 | c.1199T>G (p.Val400Gly) c.1049T>G (p.Val350Gly) c.971T>G (p.Val324Gly) c.74T>G (p.Val25Gly) | |
| 16 | g.55491820G>A | CA495549048 | MMP2 | c.1200G>A (p.Val400=) c.1050G>A (p.Val350=) c.972G>A (p.Val324=) c.75G>A (p.Val25=) | gnomAD v4 |
| 16 | g.55491820G>C | CA495549049 | MMP2 | c.1200G>C (p.Val400=) c.1050G>C (p.Val350=) c.972G>C (p.Val324=) c.75G>C (p.Val25=) | |
| 16 | g.55491820G>T | CA495549050 | MMP2 | c.1200G>T (p.Val400=) c.1050G>T (p.Val350=) c.972G>T (p.Val324=) c.75G>T (p.Val25=) | |
| 16 | g.55491821G>A | CA395936529 | MMP2 | c.1201G>A (p.Ala401Thr) c.1051G>A (p.Ala351Thr) c.973G>A (p.Ala325Thr) c.76G>A (p.Ala26Thr) | gnomAD v4 |
| 16 | g.55491821G>C | CA395936530 | MMP2 | c.1201G>C (p.Ala401Pro) c.1051G>C (p.Ala351Pro) c.973G>C (p.Ala325Pro) c.76G>C (p.Ala26Pro) |