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 |
|---|---|---|---|---|---|
| 2 | g.47401439_47411294del | CA331194 | ClinVar | ||
| 2 | g.47403192_47408555del | CA2581463442 | MSH2 | c.1_366del c.-31+17_168del n.73_438del n.63_428del | |
| 2 | g.47403280_47410368delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT | CA658760387 | MSH2 | c.89_641delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT c.-30-80_443delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.161_713delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.151_703delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT | |
| 2 | g.47408396_47408551delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA | CA2495830047 | MSH2 | c.212-5_362delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA c.14-5_164delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA n.284-5_434delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA n.274-5_424delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA | |
| 2 | g.47408397_47408552del | CA2499215995 | MSH2 | c.212-4_363del c.14-4_165del n.284-4_435del n.274-4_425del | ClinVar dbSNP |
| 2 | g.47408402_47408556del | CA645372532 | MSH2 | c.213_366+1del c.15_168+1del n.285_438+1del n.275_428+1del | ClinVar dbSNP |
| 2 | g.47408399_47408556del | CA2499215996 | MSH2 | c.212-2_366+1del c.14-2_168+1del n.284-2_438+1del n.274-2_428+1del | ClinVar dbSNP |
| 2 | g.47408400_47409267del | CA2499215997 | MSH2 | c.212-1_366+712del c.14-1_168+712del n.284-1_438+712del n.274-1_428+712del | ClinVar dbSNP |
| 2 | g.47408402_47410373del | CA2581463448 | MSH2 | c.213_645+1del c.15_447+1del n.285_717+1del n.275_707+1del | |
| 2 | g.47408400_47408454dup | CA2699268416 | MSH2 | c.212-1_265dup c.14-1_67dup n.284-1_337dup n.274-1_327dup | dbSNP |
| 2 | g.47408400_47408556dup | CA2499215998 | MSH2 | c.212-1_366+1dup c.14-1_168+1dup n.284-1_438+1dup n.274-1_428+1dup | ClinVar |
| 2 | g.47408431_47408462delinsGTAAAATGAATTTTGAATCTTTTGTAAAAGAT | CA2495830213 | MSH2 | c.242_273delinsGTAAAATGAATTTTGAATCTTTTGTAAAAGAT (p.Ser81=) c.44_75delinsGTAAAATGAATTTTGAATCTTTTGTAAAAGAT (p.Ser15=) n.314_345delinsGTAAAATGAATTTTGAATCTTTTGTAAAAGAT n.304_335delinsGTAAAATGAATTTTGAATCTTTTGTAAAAGAT | |
| 2 | g.47408432_47408462delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG | CA020585 | MSH2 | c.243_273delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG (p.Ser82Ter) c.45_75delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG (p.Ser16Ter) n.315_345delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG n.305_335delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG | ClinVar dbSNP |
| 2 | g.47408453dup | CA020793 | MSH2 | c.264dup (p.Val89CysfsTer11) c.66dup (p.Val23CysfsTer11) n.336dup n.326dup | ClinVar dbSNP |
| 2 | g.47408452_47408453dup | CA1139656934 | MSH2 | c.263_264dup (p.Val89LeufsTer2) c.65_66dup (p.Val23LeufsTer2) n.335_336dup n.325_326dup | ClinVar dbSNP |
| 2 | g.47408453del | CA2586969085 | MSH2 | c.264del (p.Phe88LeufsTer2) c.66del (p.Phe22LeufsTer2) n.336del n.326del | |
| 2 | g.47408452_47408453del | CA020823 | MSH2 | c.263_264del (p.Phe88CysfsTer11) c.65_66del (p.Phe22CysfsTer11) n.335_336del n.325_326del | ClinVar dbSNP |
| 2 | g.47408452T>A | CA346729556 | MSH2 | c.263T>A (p.Phe88Tyr) c.65T>A (p.Phe22Tyr) n.335T>A n.325T>A | dbSNP |
| 2 | g.47408452T>C | CA346729557 | MSH2 | c.263T>C (p.Phe88Ser) c.65T>C (p.Phe22Ser) n.335T>C n.325T>C | ClinVar dbSNP |
| 2 | g.47408452T>G | CA346729558 | MSH2 | c.263T>G (p.Phe88Cys) c.65T>G (p.Phe22Cys) n.335T>G n.325T>G | |
| 2 | g.47408452T= | CA2495830232 | MSH2 | c.263T= (p.Phe88=) c.65T= (p.Phe22=) n.335T= n.325T= | |
| 2 | g.47408453T>A | CA346729560 | MSH2 | c.264T>A (p.Phe88Leu) c.66T>A (p.Phe22Leu) n.336T>A n.326T>A | dbSNP |
| 2 | g.47408453T>C | CA425965664 | MSH2 | c.264T>C (p.Phe88=) c.66T>C (p.Phe22=) n.336T>C n.326T>C | ClinVar dbSNP |
| 2 | g.47408453T>G | CA346729559 | MSH2 | c.264T>G (p.Phe88Leu) c.66T>G (p.Phe22Leu) n.336T>G n.326T>G | |
| 2 | g.47408453T= | CA2495830233 | MSH2 | c.264T= (p.Phe88=) c.66T= (p.Phe22=) n.336T= n.326T= | |
| 2 | g.47408454del | CA2573051268 | MSH2 | c.265del (p.Val89Ter) c.67del (p.Val23Ter) n.337del n.327del | |
| 2 | g.47408454G>A | CA10577928 | MSH2 | c.265G>A (p.Val89Ile) c.67G>A (p.Val23Ile) n.337G>A n.327G>A | ClinVar dbSNP |
| 2 | g.47408454G>C | CA020879 | MSH2 | c.265G>C (p.Val89Leu) c.67G>C (p.Val23Leu) n.337G>C n.327G>C | ClinVar dbSNP |
| 2 | g.47408454G= | CA2495830234 | MSH2 | c.265G= (p.Val89=) c.67G= (p.Val23=) n.337G= n.327G= | |
| 2 | g.47408454G>T | CA346729561 | MSH2 | c.265G>T (p.Val89Leu) c.67G>T (p.Val23Leu) n.337G>T n.327G>T | dbSNP |
| 2 | g.47408455del | CA2499215999 | MSH2 | c.266del (p.Val89GlufsTer?) c.68del (p.Val23GlufsTer?) n.338del n.328del | ClinVar dbSNP |
| 2 | g.47408455T>A | CA346729562 | MSH2 | c.266T>A (p.Val89Glu) c.68T>A (p.Val23Glu) n.338T>A n.328T>A | |
| 2 | g.47408455T>C | CA10577929 | MSH2 | c.266T>C (p.Val89Ala) c.68T>C (p.Val23Ala) n.338T>C n.328T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47408455T>G | CA346729563 | MSH2 | c.266T>G (p.Val89Gly) c.68T>G (p.Val23Gly) n.338T>G n.328T>G | ClinVar dbSNP |
| 2 | g.47408455T= | CA2495830235 | MSH2 | c.266T= (p.Val89=) c.68T= (p.Val23=) n.338T= n.328T= | |
| 2 | g.47408456A= | CA2495830236 | MSH2 | c.267A= (p.Val89=) c.69A= (p.Val23=) n.339A= n.329A= | |
| 2 | g.47408456A>C | CA10577930 | MSH2 | c.267A>C (p.Val89=) c.69A>C (p.Val23=) n.339A>C n.329A>C | ClinVar dbSNP |
| 2 | g.47408456A>G | CA425965665 | MSH2 | c.267A>G (p.Val89=) c.69A>G (p.Val23=) n.339A>G n.329A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47408456A>T | CA425965666 | MSH2 | c.267A>T (p.Val89=) c.69A>T (p.Val23=) n.339A>T n.329A>T | |
| 2 | g.47408456_47408457insCA | CA2580067416 | MSH2 | c.267_268insCA (p.Lys90GlnfsTer?) c.69_70insCA (p.Lys24GlnfsTer?) n.339_340insCA n.329_330insCA | ClinVar |
| 2 | g.47408459del | CA2580067417 | MSH2 | c.270del (p.Asp91IlefsTer?) c.72del (p.Asp25IlefsTer?) n.342del n.332del | ClinVar |
| 2 | g.47408457A>C | CA346729564 | MSH2 | c.268A>C (p.Lys90Gln) c.70A>C (p.Lys24Gln) n.340A>C n.330A>C | |
| 2 | g.47408457A>G | CA346729565 | MSH2 | c.268A>G (p.Lys90Glu) c.70A>G (p.Lys24Glu) n.340A>G n.330A>G | ClinVar |
| 2 | g.47408457A>T | CA346729566 | MSH2 | c.268A>T (p.Lys90Ter) c.70A>T (p.Lys24Ter) n.340A>T n.330A>T | |
| 2 | g.47408458_47408479dup | CA251947 | MSH2 | c.269_290dup (p.Tyr98ArgfsTer9) c.71_92dup (p.Tyr32ArgfsTer9) n.341_362dup n.331_352dup | ClinVar dbSNP |
| 2 | g.47408458A>C | CA346729567 | MSH2 | c.269A>C (p.Lys90Thr) c.71A>C (p.Lys24Thr) n.341A>C n.331A>C | |
| 2 | g.47408458A>G | CA346729568 | MSH2 | c.269A>G (p.Lys90Arg) c.71A>G (p.Lys24Arg) n.341A>G n.331A>G | ClinVar dbSNP |
| 2 | g.47408458A>T | CA346729569 | MSH2 | c.269A>T (p.Lys90Ile) c.71A>T (p.Lys24Ile) n.341A>T n.331A>T | dbSNP |
| 2 | g.47408459A>C | CA346729571 | MSH2 | c.270A>C (p.Lys90Asn) c.72A>C (p.Lys24Asn) n.342A>C n.332A>C | |
| 2 | g.47408459A>G | CA425965667 | MSH2 | c.270A>G (p.Lys90=) c.72A>G (p.Lys24=) n.342A>G n.332A>G | gnomAD v4 |