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.55491906_55491907delinsAG | CA2223714686 | MMP2 | c.1286_1287delinsAG (p.Lys429=) c.1136_1137delinsAG (p.Lys379=) c.1058_1059delinsAG (p.Lys353=) c.161_162delinsAG (p.Lys54=) | |
| 16 | g.55491907del | CA203624 | MMP2 | c.1287del (p.Asn430ThrfsTer?) c.1137del (p.Asn380ThrfsTer?) c.1059del (p.Asn354ThrfsTer?) c.162del (p.Asn55ThrfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.55491907G>A | CA495549253 | MMP2 | c.1287G>A (p.Lys429=) c.1137G>A (p.Lys379=) c.1059G>A (p.Lys353=) c.162G>A (p.Lys54=) | |
| 16 | g.55491907G>C | CA395936719 | MMP2 | c.1287G>C (p.Lys429Asn) c.1137G>C (p.Lys379Asn) c.1059G>C (p.Lys353Asn) c.162G>C (p.Lys54Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.55491907G= | CA2223714687 | MMP2 | c.1287G= (p.Lys429=) c.1137G= (p.Lys379=) c.1059G= (p.Lys353=) c.162G= (p.Lys54=) | |
| 16 | g.55491907G>T | CA8060367 | MMP2 | c.1287G>T (p.Lys429Asn) c.1137G>T (p.Lys379Asn) c.1059G>T (p.Lys353Asn) c.162G>T (p.Lys54Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.55491908A>C | CA395936720 | MMP2 | c.1288A>C (p.Asn430His) c.1138A>C (p.Asn380His) c.1060A>C (p.Asn354His) c.163A>C (p.Asn55His) | |
| 16 | g.55491908A>G | CA395936721 | MMP2 | c.1288A>G (p.Asn430Asp) c.1138A>G (p.Asn380Asp) c.1060A>G (p.Asn354Asp) c.163A>G (p.Asn55Asp) | |
| 16 | g.55491908A>T | CA395936722 | MMP2 | c.1288A>T (p.Asn430Tyr) c.1138A>T (p.Asn380Tyr) c.1060A>T (p.Asn354Tyr) c.163A>T (p.Asn55Tyr) | |
| 16 | g.55491909del | CA2573054242 | MMP2 | c.1289del (p.Asn430ThrfsTer?) c.1139del (p.Asn380ThrfsTer?) c.1061del (p.Asn354ThrfsTer?) c.164del (p.Asn55ThrfsTer?) | ClinVar dbSNP |
| 16 | g.55491909A>C | CA395936723 | MMP2 | c.1289A>C (p.Asn430Thr) c.1139A>C (p.Asn380Thr) c.1061A>C (p.Asn354Thr) c.164A>C (p.Asn55Thr) | |
| 16 | g.55491909A>G | CA395936724 | MMP2 | c.1289A>G (p.Asn430Ser) c.1139A>G (p.Asn380Ser) c.1061A>G (p.Asn354Ser) c.164A>G (p.Asn55Ser) | |
| 16 | g.55491909A>T | CA395936725 | MMP2 | c.1289A>T (p.Asn430Ile) c.1139A>T (p.Asn380Ile) c.1061A>T (p.Asn354Ile) c.164A>T (p.Asn55Ile) | |
| 16 | g.55491910C>A | CA395936726 | MMP2 | c.1290C>A (p.Asn430Lys) c.1140C>A (p.Asn380Lys) c.1062C>A (p.Asn354Lys) c.165C>A (p.Asn55Lys) | |
| 16 | g.55491910C>G | CA395936727 | MMP2 | c.1290C>G (p.Asn430Lys) c.1140C>G (p.Asn380Lys) c.1062C>G (p.Asn354Lys) c.165C>G (p.Asn55Lys) | |
| 16 | g.55491910C>T | CA495549264 | MMP2 | c.1290C>T (p.Asn430=) c.1140C>T (p.Asn380=) c.1062C>T (p.Asn354=) c.165C>T (p.Asn55=) | gnomAD v4 |
| 16 | g.55491911T>A | CA395936728 | MMP2 | c.1291T>A (p.Phe431Ile) c.1141T>A (p.Phe381Ile) c.1063T>A (p.Phe355Ile) c.166T>A (p.Phe56Ile) | |
| 16 | g.55491911T>C | CA395936729 | MMP2 | c.1291T>C (p.Phe431Leu) c.1141T>C (p.Phe381Leu) c.1063T>C (p.Phe355Leu) c.166T>C (p.Phe56Leu) | |
| 16 | g.55491911T>G | CA395936730 | MMP2 | c.1291T>G (p.Phe431Val) c.1141T>G (p.Phe381Val) c.1063T>G (p.Phe355Val) c.166T>G (p.Phe56Val) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.55491911T= | CA2223714688 | MMP2 | c.1291T= (p.Phe431=) c.1141T= (p.Phe381=) c.1063T= (p.Phe355=) c.166T= (p.Phe56=) | |
| 16 | g.55491912T>A | CA395936732 | MMP2 | c.1292T>A (p.Phe431Tyr) c.1142T>A (p.Phe381Tyr) c.1064T>A (p.Phe355Tyr) c.167T>A (p.Phe56Tyr) | |
| 16 | g.55491912T>C | CA395936733 | MMP2 | c.1292T>C (p.Phe431Ser) c.1142T>C (p.Phe381Ser) c.1064T>C (p.Phe355Ser) c.167T>C (p.Phe56Ser) | |
| 16 | g.55491912T>G | CA395936731 | MMP2 | c.1292T>G (p.Phe431Cys) c.1142T>G (p.Phe381Cys) c.1064T>G (p.Phe355Cys) c.167T>G (p.Phe56Cys) | |
| 16 | g.55491913C>A | CA395936734 | MMP2 | c.1293C>A (p.Phe431Leu) c.1143C>A (p.Phe381Leu) c.1065C>A (p.Phe355Leu) c.168C>A (p.Phe56Leu) | gnomAD v4 |
| 16 | g.55491913C>G | CA395936735 | MMP2 | c.1293C>G (p.Phe431Leu) c.1143C>G (p.Phe381Leu) c.1065C>G (p.Phe355Leu) c.168C>G (p.Phe56Leu) | |
| 16 | g.55491913C>T | CA495549276 | MMP2 | c.1293C>T (p.Phe431=) c.1143C>T (p.Phe381=) c.1065C>T (p.Phe355=) c.168C>T (p.Phe56=) | |
| 16 | g.55491914del | CA2633280513 | MMP2 | c.1294del (p.Arg432ValfsTer?) c.1144del (p.Arg382ValfsTer?) c.1066del (p.Arg356ValfsTer?) c.169del (p.Arg57ValfsTer?) | gnomAD v4 |
| 16 | g.55491914C>A | CA395936736 | MMP2 | c.1294C>A (p.Arg432Ser) c.1144C>A (p.Arg382Ser) c.1066C>A (p.Arg356Ser) c.169C>A (p.Arg57Ser) | COSMIC |
| 16 | g.55491914C= | CA2223714689 | MMP2 | c.1294C= (p.Arg432=) c.1144C= (p.Arg382=) c.1066C= (p.Arg356=) c.169C= (p.Arg57=) | |
| 16 | g.55491914C>G | CA395936737 | MMP2 | c.1294C>G (p.Arg432Gly) c.1144C>G (p.Arg382Gly) c.1066C>G (p.Arg356Gly) c.169C>G (p.Arg57Gly) | |
| 16 | g.55491914C>T | CA395936738 | MMP2 | c.1294C>T (p.Arg432Cys) c.1144C>T (p.Arg382Cys) c.1066C>T (p.Arg356Cys) c.169C>T (p.Arg57Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.55491915G>A | CA8060368 | MMP2 | c.1295G>A (p.Arg432His) c.1145G>A (p.Arg382His) c.1067G>A (p.Arg356His) c.170G>A (p.Arg57His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.55491915G>C | CA395936739 | MMP2 | c.1295G>C (p.Arg432Pro) c.1145G>C (p.Arg382Pro) c.1067G>C (p.Arg356Pro) c.170G>C (p.Arg57Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.55491915G= | CA2223714690 | MMP2 | c.1295G= (p.Arg432=) c.1145G= (p.Arg382=) c.1067G= (p.Arg356=) c.170G= (p.Arg57=) | |
| 16 | g.55491915G>T | CA395936740 | MMP2 | c.1295G>T (p.Arg432Leu) c.1145G>T (p.Arg382Leu) c.1067G>T (p.Arg356Leu) c.170G>T (p.Arg57Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.55491916T>A | CA495549281 | MMP2 | c.1296T>A (p.Arg432=) c.1146T>A (p.Arg382=) c.1068T>A (p.Arg356=) c.171T>A (p.Arg57=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.55491916T>C | CA281399210 | MMP2 | c.1296T>C (p.Arg432=) c.1146T>C (p.Arg382=) c.1068T>C (p.Arg356=) c.171T>C (p.Arg57=) | dbSNP gnomAD v4 |
| 16 | g.55491916T>G | CA495549282 | MMP2 | c.1296T>G (p.Arg432=) c.1146T>G (p.Arg382=) c.1068T>G (p.Arg356=) c.171T>G (p.Arg57=) | |
| 16 | g.55491916T= | CA2223714691 | MMP2 | c.1296T= (p.Arg432=) c.1146T= (p.Arg382=) c.1068T= (p.Arg356=) c.171T= (p.Arg57=) | |
| 16 | g.55491917C>A | CA395936741 | MMP2 | c.1297C>A (p.Leu433Met) c.1147C>A (p.Leu383Met) c.1069C>A (p.Leu357Met) c.172C>A (p.Leu58Met) | |
| 16 | g.55491917C>G | CA395936742 | MMP2 | c.1297C>G (p.Leu433Val) c.1147C>G (p.Leu383Val) c.1069C>G (p.Leu357Val) c.172C>G (p.Leu58Val) | |
| 16 | g.55491917C>T | CA495549286 | MMP2 | c.1297C>T (p.Leu433=) c.1147C>T (p.Leu383=) c.1069C>T (p.Leu357=) c.172C>T (p.Leu58=) | |
| 16 | g.55491918T>A | CA395936743 | MMP2 | c.1298T>A (p.Leu433Gln) c.1148T>A (p.Leu383Gln) c.1070T>A (p.Leu357Gln) c.173T>A (p.Leu58Gln) | |
| 16 | g.55491918T>C | CA395936744 | MMP2 | c.1298T>C (p.Leu433Pro) c.1148T>C (p.Leu383Pro) c.1070T>C (p.Leu357Pro) c.173T>C (p.Leu58Pro) | |
| 16 | g.55491918T>G | CA395936745 | MMP2 | c.1298T>G (p.Leu433Arg) c.1148T>G (p.Leu383Arg) c.1070T>G (p.Leu357Arg) c.173T>G (p.Leu58Arg) | |
| 16 | g.55491919G>A | CA495549293 | MMP2 | c.1299G>A (p.Leu433=) c.1149G>A (p.Leu383=) c.1071G>A (p.Leu357=) c.174G>A (p.Leu58=) | |
| 16 | g.55491919G>C | CA495549291 | MMP2 | c.1299G>C (p.Leu433=) c.1149G>C (p.Leu383=) c.1071G>C (p.Leu357=) c.174G>C (p.Leu58=) | |
| 16 | g.55491919G>T | CA495549290 | MMP2 | c.1299G>T (p.Leu433=) c.1149G>T (p.Leu383=) c.1071G>T (p.Leu357=) c.174G>T (p.Leu58=) | |
| 16 | g.55491920T>A | CA395936747 | MMP2 | c.1300T>A (p.Ser434Thr) c.1150T>A (p.Ser384Thr) c.1072T>A (p.Ser358Thr) c.175T>A (p.Ser59Thr) | |
| 16 | g.55491920T>C | CA281399212 | MMP2 | c.1300T>C (p.Ser434Pro) c.1150T>C (p.Ser384Pro) c.1072T>C (p.Ser358Pro) c.175T>C (p.Ser59Pro) | dbSNP gnomAD v4 |