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 |
|---|---|---|---|---|---|
| 5 | g.128274648G>A | CA360753408 | FBN2 | n.4414C>T c.7630C>T (p.Gln2544Ter) c.7627C>T (p.Gln2543Ter) c.7477C>T (p.Gln2493Ter) | ClinVar dbSNP |
| 5 | g.128274648G>C | CA360753409 | FBN2 | n.4414C>G c.7630C>G (p.Gln2544Glu) c.7627C>G (p.Gln2543Glu) c.7477C>G (p.Gln2493Glu) | |
| 5 | g.128274648G= | CA1581240643 | FBN2 | n.4414C= c.7630C= (p.Gln2544=) c.7627C= (p.Gln2543=) c.7477C= (p.Gln2493=) | |
| 5 | g.128274648G>T | CA360753410 | FBN2 | n.4414C>A c.7630C>A (p.Gln2544Lys) c.7627C>A (p.Gln2543Lys) c.7477C>A (p.Gln2493Lys) | |
| 5 | g.128274648_128274656delinsGGCAGTTAT | CA1581240644 | FBN2 | n.4406_4414delinsATAACTGCC c.7622_7630delinsATAACTGCC (p.His2541=) c.7619_7627delinsATAACTGCC (p.His2540=) c.7469_7477delinsATAACTGCC (p.His2490=) | |
| 5 | g.128274649G>A | CA446306698 | FBN2 | n.4413C>T c.7629C>T (p.Cys2543=) c.7626C>T (p.Cys2542=) c.7476C>T (p.Cys2492=) | gnomAD v4 |
| 5 | g.128274649G>C | CA360753413 | FBN2 | n.4413C>G c.7629C>G (p.Cys2543Trp) c.7626C>G (p.Cys2542Trp) c.7476C>G (p.Cys2492Trp) | |
| 5 | g.128274649G>T | CA360753415 | FBN2 | n.4413C>A c.7629C>A (p.Cys2543Ter) c.7626C>A (p.Cys2542Ter) c.7476C>A (p.Cys2492Ter) | |
| 5 | g.128274651_128274658del | CA1139659042 | FBN2 | n.4406_4413del c.7622_7629del (p.His2541ProfsTer14) c.7619_7626del (p.His2540ProfsTer14) c.7469_7476del (p.His2490ProfsTer14) | dbSNP |
| 5 | g.128274650C>A | CA3394059 | FBN2 | n.4412G>T c.7628G>T (p.Cys2543Phe) c.7625G>T (p.Cys2542Phe) c.7475G>T (p.Cys2492Phe) | dbSNP ExAC |
| 5 | g.128274650C= | CA1581240645 | FBN2 | n.4412G= c.7628G= (p.Cys2543=) c.7625G= (p.Cys2542=) c.7475G= (p.Cys2492=) | |
| 5 | g.128274650C>G | CA360753418 | FBN2 | n.4412G>C c.7628G>C (p.Cys2543Ser) c.7625G>C (p.Cys2542Ser) c.7475G>C (p.Cys2492Ser) | |
| 5 | g.128274650C>T | CA360753420 | FBN2 | n.4412G>A c.7628G>A (p.Cys2543Tyr) c.7625G>A (p.Cys2542Tyr) c.7475G>A (p.Cys2492Tyr) | |
| 5 | g.128274651A>C | CA360753423 | FBN2 | n.4411T>G c.7627T>G (p.Cys2543Gly) c.7624T>G (p.Cys2542Gly) c.7474T>G (p.Cys2492Gly) | |
| 5 | g.128274651A>G | CA360753424 | FBN2 | n.4411T>C c.7627T>C (p.Cys2543Arg) c.7624T>C (p.Cys2542Arg) c.7474T>C (p.Cys2492Arg) | |
| 5 | g.128274651A>T | CA360753425 | FBN2 | n.4411T>A c.7627T>A (p.Cys2543Ser) c.7624T>A (p.Cys2542Ser) c.7474T>A (p.Cys2492Ser) | |
| 5 | g.128274652G>A | CA127020483 | FBN2 | n.4410C>T c.7626C>T (p.Asn2542=) c.7623C>T (p.Asn2541=) c.7473C>T (p.Asn2491=) | dbSNP gnomAD v4 |
| 5 | g.128274652G>C | CA360753429 | FBN2 | n.4410C>G c.7626C>G (p.Asn2542Lys) c.7623C>G (p.Asn2541Lys) c.7473C>G (p.Asn2491Lys) | ClinVar |
| 5 | g.128274652G= | CA1581240646 | FBN2 | n.4410C= c.7626C= (p.Asn2542=) c.7623C= (p.Asn2541=) c.7473C= (p.Asn2491=) | |
| 5 | g.128274652G>T | CA360753430 | FBN2 | n.4410C>A c.7626C>A (p.Asn2542Lys) c.7623C>A (p.Asn2541Lys) c.7473C>A (p.Asn2491Lys) | COSMIC COSMIC |
| 5 | g.128274653T>A | CA360753431 | FBN2 | n.4409A>T c.7625A>T (p.Asn2542Ile) c.7622A>T (p.Asn2541Ile) c.7472A>T (p.Asn2491Ile) | |
| 5 | g.128274653T>C | CA360753433 | FBN2 | n.4409A>G c.7625A>G (p.Asn2542Ser) c.7622A>G (p.Asn2541Ser) c.7472A>G (p.Asn2491Ser) | |
| 5 | g.128274653T>G | CA127020493 | FBN2 | n.4409A>C c.7625A>C (p.Asn2542Thr) c.7622A>C (p.Asn2541Thr) c.7472A>C (p.Asn2491Thr) | dbSNP |
| 5 | g.128274653T= | CA1581240647 | FBN2 | n.4409A= c.7625A= (p.Asn2542=) c.7622A= (p.Asn2541=) c.7472A= (p.Asn2491=) | |
| 5 | g.128274654del | CA2578395598 | FBN2 | n.4409del c.7625del (p.Asn2542ThrfsTer?) c.7622del (p.Asn2541ThrfsTer?) c.7472del (p.Asn2491ThrfsTer?) | |
| 5 | g.128274654T>A | CA360753436 | FBN2 | n.4408A>T c.7624A>T (p.Asn2542Tyr) c.7621A>T (p.Asn2541Tyr) c.7471A>T (p.Asn2491Tyr) | |
| 5 | g.128274654T>C | CA360753437 | FBN2 | n.4408A>G c.7624A>G (p.Asn2542Asp) c.7621A>G (p.Asn2541Asp) c.7471A>G (p.Asn2491Asp) | |
| 5 | g.128274654T>G | CA360753439 | FBN2 | n.4408A>C c.7624A>C (p.Asn2542His) c.7621A>C (p.Asn2541His) c.7471A>C (p.Asn2491His) | |
| 5 | g.128274655A>C | CA360753441 | FBN2 | n.4407T>G c.7623T>G (p.His2541Gln) c.7620T>G (p.His2540Gln) c.7470T>G (p.His2490Gln) | |
| 5 | g.128274655A>G | CA446306703 | FBN2 | n.4407T>C c.7623T>C (p.His2541=) c.7620T>C (p.His2540=) c.7470T>C (p.His2490=) | |
| 5 | g.128274655A>T | CA360753444 | FBN2 | n.4407T>A c.7623T>A (p.His2541Gln) c.7620T>A (p.His2540Gln) c.7470T>A (p.His2490Gln) | |
| 5 | g.128274656T>A | CA360753450 | FBN2 | n.4406A>T c.7622A>T (p.His2541Leu) c.7619A>T (p.His2540Leu) c.7469A>T (p.His2490Leu) | |
| 5 | g.128274656T>C | CA3394060 | FBN2 | n.4406A>G c.7622A>G (p.His2541Arg) c.7619A>G (p.His2540Arg) c.7469A>G (p.His2490Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128274656T>G | CA360753457 | FBN2 | n.4406A>C c.7622A>C (p.His2541Pro) c.7619A>C (p.His2540Pro) c.7469A>C (p.His2490Pro) | |
| 5 | g.128274656T= | CA1581240648 | FBN2 | n.4406A= c.7622A= (p.His2541=) c.7619A= (p.His2540=) c.7469A= (p.His2490=) | |
| 5 | g.128274657G>A | CA3394061 | FBN2 | n.4405C>T c.7621C>T (p.His2541Tyr) c.7618C>T (p.His2540Tyr) c.7468C>T (p.His2490Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128274657G>C | CA360753462 | FBN2 | n.4405C>G c.7621C>G (p.His2541Asp) c.7618C>G (p.His2540Asp) c.7468C>G (p.His2490Asp) | |
| 5 | g.128274657G= | CA1581240649 | FBN2 | n.4405C= c.7621C= (p.His2541=) c.7618C= (p.His2540=) c.7468C= (p.His2490=) | |
| 5 | g.128274657G>T | CA360753464 | FBN2 | n.4405C>A c.7621C>A (p.His2541Asn) c.7618C>A (p.His2540Asn) c.7468C>A (p.His2490Asn) | |
| 5 | g.128274658C>A | CA360753465 | FBN2 | n.4404G>T c.7620G>T (p.Gln2540His) c.7617G>T (p.Gln2539His) c.7467G>T (p.Gln2489His) | |
| 5 | g.128274658C= | CA1581240650 | FBN2 | n.4404G= c.7620G= (p.Gln2540=) c.7617G= (p.Gln2539=) c.7467G= (p.Gln2489=) | |
| 5 | g.128274658C>G | CA360753466 | FBN2 | n.4404G>C c.7620G>C (p.Gln2540His) c.7617G>C (p.Gln2539His) c.7467G>C (p.Gln2489His) | dbSNP |
| 5 | g.128274658C>T | CA446306704 | FBN2 | n.4404G>A c.7620G>A (p.Gln2540=) c.7617G>A (p.Gln2539=) c.7467G>A (p.Gln2489=) | |
| 5 | g.128274659T>A | CA360753467 | FBN2 | n.4403A>T c.7619A>T (p.Gln2540Leu) c.7616A>T (p.Gln2539Leu) c.7466A>T (p.Gln2489Leu) | |
| 5 | g.128274659T>C | CA360753470 | FBN2 | n.4403A>G c.7619A>G (p.Gln2540Arg) c.7616A>G (p.Gln2539Arg) c.7466A>G (p.Gln2489Arg) | |
| 5 | g.128274659T>G | CA360753468 | FBN2 | n.4403A>C c.7619A>C (p.Gln2540Pro) c.7616A>C (p.Gln2539Pro) c.7466A>C (p.Gln2489Pro) | |
| 5 | g.128274660G>A | CA360753472 | FBN2 | n.4402C>T c.7618C>T (p.Gln2540Ter) c.7615C>T (p.Gln2539Ter) c.7465C>T (p.Gln2489Ter) | ClinVar dbSNP gnomAD v2 |
| 5 | g.128274660G>C | CA360753474 | FBN2 | n.4402C>G c.7618C>G (p.Gln2540Glu) c.7615C>G (p.Gln2539Glu) c.7465C>G (p.Gln2489Glu) | |
| 5 | g.128274660G= | CA1581240651 | FBN2 | n.4402C= c.7618C= (p.Gln2540=) c.7615C= (p.Gln2539=) c.7465C= (p.Gln2489=) | |
| 5 | g.128274660G>T | CA360753473 | FBN2 | n.4402C>A c.7618C>A (p.Gln2540Lys) c.7615C>A (p.Gln2539Lys) c.7465C>A (p.Gln2489Lys) |