WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.27461689G>A | CA4689410 | CHRNA2 | c.1530C>T (p.Ile510=) c.1485C>T (p.Ile495=) n.355C>T c.1464C>T (p.Ile488=) c.*932C>T (n.*932C>T) c.1053C>T (p.Ile351=) c.936C>T (p.Ile312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27461689G>C | CA370806959 | CHRNA2 | c.1530C>G (p.Ile510Met) c.1485C>G (p.Ile495Met) n.355C>G c.1464C>G (p.Ile488Met) c.*932C>G (n.*932C>G) c.1053C>G (p.Ile351Met) c.936C>G (p.Ile312Met) | |
| 8 | g.27461689G= | CA1772811682 | CHRNA2 | c.1530C= (p.Ile510=) c.1485C= (p.Ile495=) n.355C= c.1464C= (p.Ile488=) c.*932C= (n.*932C=) c.1053C= (p.Ile351=) c.936C= (p.Ile312=) | |
| 8 | g.27461689G>T | CA460046572 | CHRNA2 | c.1530C>A (p.Ile510=) c.1485C>A (p.Ile495=) n.355C>A c.1464C>A (p.Ile488=) c.*932C>A (n.*932C>A) c.1053C>A (p.Ile351=) c.936C>A (p.Ile312=) | |
| 8 | g.27461690A= | CA1772811687 | CHRNA2 | c.1529T= (p.Ile510=) c.1484T= (p.Ile495=) n.354T= c.1463T= (p.Ile488=) c.*931T= (n.*931T=) c.1052T= (p.Ile351=) c.935T= (p.Ile312=) | |
| 8 | g.27461690A>C | CA370806964 | CHRNA2 | c.1529T>G (p.Ile510Ser) c.1484T>G (p.Ile495Ser) n.354T>G c.1463T>G (p.Ile488Ser) c.*931T>G (n.*931T>G) c.1052T>G (p.Ile351Ser) c.935T>G (p.Ile312Ser) | |
| 8 | g.27461690A>G | CA370806966 | CHRNA2 | c.1529T>C (p.Ile510Thr) c.1484T>C (p.Ile495Thr) n.354T>C c.1463T>C (p.Ile488Thr) c.*931T>C (n.*931T>C) c.1052T>C (p.Ile351Thr) c.935T>C (p.Ile312Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27461690A>T | CA370806962 | CHRNA2 | c.1529T>A (p.Ile510Asn) c.1484T>A (p.Ile495Asn) n.354T>A c.1463T>A (p.Ile488Asn) c.*931T>A (n.*931T>A) c.1052T>A (p.Ile351Asn) c.935T>A (p.Ile312Asn) | |
| 8 | g.27461691T>A | CA370806971 | CHRNA2 | c.1528A>T (p.Ile510Phe) c.1483A>T (p.Ile495Phe) n.353A>T c.1462A>T (p.Ile488Phe) c.*930A>T (n.*930A>T) c.1051A>T (p.Ile351Phe) c.934A>T (p.Ile312Phe) | |
| 8 | g.27461691T>C | CA4689411 | CHRNA2 | c.1528A>G (p.Ile510Val) c.1483A>G (p.Ile495Val) n.353A>G c.1462A>G (p.Ile488Val) c.*930A>G (n.*930A>G) c.1051A>G (p.Ile351Val) c.934A>G (p.Ile312Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27461691T>G | CA370806974 | CHRNA2 | c.1528A>C (p.Ile510Leu) c.1483A>C (p.Ile495Leu) n.353A>C c.1462A>C (p.Ile488Leu) c.*930A>C (n.*930A>C) c.1051A>C (p.Ile351Leu) c.934A>C (p.Ile312Leu) | |
| 8 | g.27461691T= | CA1772811691 | CHRNA2 | c.1528A= (p.Ile510=) c.1483A= (p.Ile495=) n.353A= c.1462A= (p.Ile488=) c.*930A= (n.*930A=) c.1051A= (p.Ile351=) c.934A= (p.Ile312=) | |
| 8 | g.27461692G>A | CA460046573 | CHRNA2 | c.1527C>T (p.Ile509=) c.1482C>T (p.Ile494=) n.352C>T c.1461C>T (p.Ile487=) c.*929C>T (n.*929C>T) c.1050C>T (p.Ile350=) c.933C>T (p.Ile311=) | |
| 8 | g.27461692G>C | CA370806977 | CHRNA2 | c.1527C>G (p.Ile509Met) c.1482C>G (p.Ile494Met) n.352C>G c.1461C>G (p.Ile487Met) c.*929C>G (n.*929C>G) c.1050C>G (p.Ile350Met) c.933C>G (p.Ile311Met) | |
| 8 | g.27461692G>T | CA460046574 | CHRNA2 | c.1527C>A (p.Ile509=) c.1482C>A (p.Ile494=) n.352C>A c.1461C>A (p.Ile487=) c.*929C>A (n.*929C>A) c.1050C>A (p.Ile350=) c.933C>A (p.Ile311=) | |
| 8 | g.27461693A>C | CA370806985 | CHRNA2 | c.1526T>G (p.Ile509Ser) c.1481T>G (p.Ile494Ser) n.351T>G c.1460T>G (p.Ile487Ser) c.*928T>G (n.*928T>G) c.1049T>G (p.Ile350Ser) c.932T>G (p.Ile311Ser) | |
| 8 | g.27461693A>G | CA370806983 | CHRNA2 | c.1526T>C (p.Ile509Thr) c.1481T>C (p.Ile494Thr) n.351T>C c.1460T>C (p.Ile487Thr) c.*928T>C (n.*928T>C) c.1049T>C (p.Ile350Thr) c.932T>C (p.Ile311Thr) | |
| 8 | g.27461693A>T | CA370806981 | CHRNA2 | c.1526T>A (p.Ile509Asn) c.1481T>A (p.Ile494Asn) n.351T>A c.1460T>A (p.Ile487Asn) c.*928T>A (n.*928T>A) c.1049T>A (p.Ile350Asn) c.932T>A (p.Ile311Asn) | |
| 8 | g.27461694T>A | CA370806989 | CHRNA2 | c.1525A>T (p.Ile509Phe) c.1480A>T (p.Ile494Phe) n.350A>T c.1459A>T (p.Ile487Phe) c.*927A>T (n.*927A>T) c.1048A>T (p.Ile350Phe) c.931A>T (p.Ile311Phe) | |
| 8 | g.27461694T>C | CA370806992 | CHRNA2 | c.1525A>G (p.Ile509Val) c.1480A>G (p.Ile494Val) n.350A>G c.1459A>G (p.Ile487Val) c.*927A>G (n.*927A>G) c.1048A>G (p.Ile350Val) c.931A>G (p.Ile311Val) | |
| 8 | g.27461694T>G | CA370806996 | CHRNA2 | c.1525A>C (p.Ile509Leu) c.1480A>C (p.Ile494Leu) n.350A>C c.1459A>C (p.Ile487Leu) c.*927A>C (n.*927A>C) c.1048A>C (p.Ile350Leu) c.931A>C (p.Ile311Leu) | gnomAD v4 |
| 8 | g.27461694T= | CA1772811700 | CHRNA2 | c.1525A= (p.Ile509=) c.1480A= (p.Ile494=) n.350A= c.1459A= (p.Ile487=) c.*927A= (n.*927A=) c.1048A= (p.Ile350=) c.931A= (p.Ile311=) | |
| 8 | g.27461695A= | CA1772811704 | CHRNA2 | c.1524T= (p.Phe508=) c.1479T= (p.Phe493=) n.349T= c.1458T= (p.Phe486=) c.*926T= (n.*926T=) c.1047T= (p.Phe349=) c.930T= (p.Phe310=) | |
| 8 | g.27461695A>C | CA370807000 | CHRNA2 | c.1524T>G (p.Phe508Leu) c.1479T>G (p.Phe493Leu) n.349T>G c.1458T>G (p.Phe486Leu) c.*926T>G (n.*926T>G) c.1047T>G (p.Phe349Leu) c.930T>G (p.Phe310Leu) | |
| 8 | g.27461695A>G | CA460046575 | CHRNA2 | c.1524T>C (p.Phe508=) c.1479T>C (p.Phe493=) n.349T>C c.1458T>C (p.Phe486=) c.*926T>C (n.*926T>C) c.1047T>C (p.Phe349=) c.930T>C (p.Phe310=) | dbSNP |
| 8 | g.27461695A>T | CA370807004 | CHRNA2 | c.1524T>A (p.Phe508Leu) c.1479T>A (p.Phe493Leu) n.349T>A c.1458T>A (p.Phe486Leu) c.*926T>A (n.*926T>A) c.1047T>A (p.Phe349Leu) c.930T>A (p.Phe310Leu) | |
| 8 | g.27461697dup | CA4689412 | CHRNA2 | c.1524dup (p.Ile509TyrfsTer?) c.1479dup (p.Ile494TyrfsTer?) n.349dup c.1458dup (p.Ile487TyrfsTer?) c.*926dup (n.*926dup) c.1047dup (p.Ile350TyrfsTer?) c.930dup (p.Ile311TyrfsTer?) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.27461696A>C | CA370807007 | CHRNA2 | c.1523T>G (p.Phe508Cys) c.1478T>G (p.Phe493Cys) n.348T>G c.1457T>G (p.Phe486Cys) c.*925T>G (n.*925T>G) c.1046T>G (p.Phe349Cys) c.929T>G (p.Phe310Cys) | |
| 8 | g.27461696A>G | CA370807011 | CHRNA2 | c.1523T>C (p.Phe508Ser) c.1478T>C (p.Phe493Ser) n.348T>C c.1457T>C (p.Phe486Ser) c.*925T>C (n.*925T>C) c.1046T>C (p.Phe349Ser) c.929T>C (p.Phe310Ser) | |
| 8 | g.27461696A>T | CA370807010 | CHRNA2 | c.1523T>A (p.Phe508Tyr) c.1478T>A (p.Phe493Tyr) n.348T>A c.1457T>A (p.Phe486Tyr) c.*925T>A (n.*925T>A) c.1046T>A (p.Phe349Tyr) c.929T>A (p.Phe310Tyr) | |
| 8 | g.27461697A>C | CA370807015 | CHRNA2 | c.1522T>G (p.Phe508Val) c.1477T>G (p.Phe493Val) n.347T>G c.1456T>G (p.Phe486Val) c.*924T>G (n.*924T>G) c.1045T>G (p.Phe349Val) c.928T>G (p.Phe310Val) | |
| 8 | g.27461697A>G | CA370807018 | CHRNA2 | c.1522T>C (p.Phe508Leu) c.1477T>C (p.Phe493Leu) n.347T>C c.1456T>C (p.Phe486Leu) c.*924T>C (n.*924T>C) c.1045T>C (p.Phe349Leu) c.928T>C (p.Phe310Leu) | |
| 8 | g.27461697A>T | CA370807022 | CHRNA2 | c.1522T>A (p.Phe508Ile) c.1477T>A (p.Phe493Ile) n.347T>A c.1456T>A (p.Phe486Ile) c.*924T>A (n.*924T>A) c.1045T>A (p.Phe349Ile) c.928T>A (p.Phe310Ile) | |
| 8 | g.27461698C>A | CA460046578 | CHRNA2 | c.1521G>T (p.Leu507=) c.1476G>T (p.Leu492=) n.346G>T c.1455G>T (p.Leu485=) c.*923G>T (n.*923G>T) c.1044G>T (p.Leu348=) c.927G>T (p.Leu309=) | |
| 8 | g.27461698C>G | CA460046576 | CHRNA2 | c.1521G>C (p.Leu507=) c.1476G>C (p.Leu492=) n.346G>C c.1455G>C (p.Leu485=) c.*923G>C (n.*923G>C) c.1044G>C (p.Leu348=) c.927G>C (p.Leu309=) | |
| 8 | g.27461698C>T | CA460046577 | CHRNA2 | c.1521G>A (p.Leu507=) c.1476G>A (p.Leu492=) n.346G>A c.1455G>A (p.Leu485=) c.*923G>A (n.*923G>A) c.1044G>A (p.Leu348=) c.927G>A (p.Leu309=) | |
| 8 | g.27461699A= | CA1772811707 | CHRNA2 | c.1520T= (p.Leu507=) c.1475T= (p.Leu492=) n.345T= c.1454T= (p.Leu485=) c.*922T= (n.*922T=) c.1043T= (p.Leu348=) c.926T= (p.Leu309=) | |
| 8 | g.27461699A>C | CA370807023 | CHRNA2 | c.1520T>G (p.Leu507Arg) c.1475T>G (p.Leu492Arg) n.345T>G c.1454T>G (p.Leu485Arg) c.*922T>G (n.*922T>G) c.1043T>G (p.Leu348Arg) c.926T>G (p.Leu309Arg) | |
| 8 | g.27461699A>G | CA370807025 | CHRNA2 | c.1520T>C (p.Leu507Pro) c.1475T>C (p.Leu492Pro) n.345T>C c.1454T>C (p.Leu485Pro) c.*922T>C (n.*922T>C) c.1043T>C (p.Leu348Pro) c.926T>C (p.Leu309Pro) | dbSNP gnomAD v2 |
| 8 | g.27461699A>T | CA370807027 | CHRNA2 | c.1520T>A (p.Leu507Gln) c.1475T>A (p.Leu492Gln) n.345T>A c.1454T>A (p.Leu485Gln) c.*922T>A (n.*922T>A) c.1043T>A (p.Leu348Gln) c.926T>A (p.Leu309Gln) | |
| 8 | g.27461700G>A | CA460046579 | CHRNA2 | c.1519C>T (p.Leu507=) c.1474C>T (p.Leu492=) n.344C>T c.1453C>T (p.Leu485=) c.*921C>T (n.*921C>T) c.1042C>T (p.Leu348=) c.925C>T (p.Leu309=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27461700G>C | CA370807030 | CHRNA2 | c.1519C>G (p.Leu507Val) c.1474C>G (p.Leu492Val) n.344C>G c.1453C>G (p.Leu485Val) c.*921C>G (n.*921C>G) c.1042C>G (p.Leu348Val) c.925C>G (p.Leu309Val) | |
| 8 | g.27461700G= | CA1772811710 | CHRNA2 | c.1519C= (p.Leu507=) c.1474C= (p.Leu492=) n.344C= c.1453C= (p.Leu485=) c.*921C= (n.*921C=) c.1042C= (p.Leu348=) c.925C= (p.Leu309=) | |
| 8 | g.27461700G>T | CA370807033 | CHRNA2 | c.1519C>A (p.Leu507Met) c.1474C>A (p.Leu492Met) n.344C>A c.1453C>A (p.Leu485Met) c.*921C>A (n.*921C>A) c.1042C>A (p.Leu348Met) c.925C>A (p.Leu309Met) | |
| 8 | g.27461701C>A | CA370807036 | CHRNA2 | c.1518G>T (p.Trp506Cys) c.1473G>T (p.Trp491Cys) n.343G>T c.1452G>T (p.Trp484Cys) c.*920G>T (n.*920G>T) c.1041G>T (p.Trp347Cys) c.924G>T (p.Trp308Cys) | |
| 8 | g.27461701C>G | CA370807038 | CHRNA2 | c.1518G>C (p.Trp506Cys) c.1473G>C (p.Trp491Cys) n.343G>C c.1452G>C (p.Trp484Cys) c.*920G>C (n.*920G>C) c.1041G>C (p.Trp347Cys) c.924G>C (p.Trp308Cys) | |
| 8 | g.27461701C>T | CA370807040 | CHRNA2 | c.1518G>A (p.Trp506Ter) c.1473G>A (p.Trp491Ter) n.343G>A c.1452G>A (p.Trp484Ter) c.*920G>A (n.*920G>A) c.1041G>A (p.Trp347Ter) c.924G>A (p.Trp308Ter) | |
| 8 | g.27461702dup | CA2686677832 | CHRNA2 | c.1518dup (p.Leu507AlafsTer?) c.1473dup (p.Leu492AlafsTer?) n.343dup c.1452dup (p.Leu485AlafsTer?) c.*920dup (n.*920dup) c.1041dup (p.Leu348AlafsTer?) c.924dup (p.Leu309AlafsTer?) | gnomAD v4 |
| 8 | g.27461702C>A | CA370807058 | CHRNA2 | c.1517G>T (p.Trp506Leu) c.1472G>T (p.Trp491Leu) n.342G>T c.1451G>T (p.Trp484Leu) c.*919G>T (n.*919G>T) c.1040G>T (p.Trp347Leu) c.923G>T (p.Trp308Leu) | |
| 8 | g.27461702C>G | CA370807060 | CHRNA2 | c.1517G>C (p.Trp506Ser) c.1472G>C (p.Trp491Ser) n.342G>C c.1451G>C (p.Trp484Ser) c.*919G>C (n.*919G>C) c.1040G>C (p.Trp347Ser) c.923G>C (p.Trp308Ser) |