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 |
|---|---|---|---|---|---|
| X | g.116172351A>C | CA414337528 | AGTR2 | c.71A>C (p.Asn24Thr) n.539A>C | |
| X | g.116172351A>G | CA414337529 | AGTR2 | c.71A>G (p.Asn24Ser) n.539A>G | |
| X | g.116172351A>T | CA414337530 | AGTR2 | c.71A>T (p.Asn24Ile) n.539A>T | |
| X | g.116172352C>A | CA414337531 | AGTR2 | c.72C>A (p.Asn24Lys) n.540C>A | |
| X | g.116172352C>G | CA414337532 | AGTR2 | c.72C>G (p.Asn24Lys) n.540C>G | |
| X | g.116172352C>T | CA518449138 | AGTR2 | c.72C>T (p.Asn24=) n.540C>T | gnomAD v4 |
| X | g.116172353A>C | CA414337533 | AGTR2 | c.73A>C (p.Ile25Leu) n.541A>C | |
| X | g.116172353A>G | CA414337535 | AGTR2 | c.73A>G (p.Ile25Val) n.541A>G | |
| X | g.116172353A>T | CA414337534 | AGTR2 | c.73A>T (p.Ile25Phe) n.541A>T | |
| X | g.116172354T>A | CA414337536 | AGTR2 | c.74T>A (p.Ile25Asn) n.542T>A | gnomAD v4 |
| X | g.116172354T>C | CA414337537 | AGTR2 | c.74T>C (p.Ile25Thr) n.542T>C | |
| X | g.116172354T>G | CA414337538 | AGTR2 | c.74T>G (p.Ile25Ser) n.542T>G | |
| X | g.116172355C>A | CA518449139 | AGTR2 | c.75C>A (p.Ile25=) n.543C>A | |
| X | g.116172355C>G | CA414337539 | AGTR2 | c.75C>G (p.Ile25Met) n.543C>G | |
| X | g.116172355C>T | CA518449140 | AGTR2 | c.75C>T (p.Ile25=) n.543C>T | |
| X | g.116172356T>A | CA414337540 | AGTR2 | c.76T>A (p.Ser26Thr) n.544T>A | |
| X | g.116172356T>C | CA414337541 | AGTR2 | c.76T>C (p.Ser26Pro) n.544T>C | ClinVar |
| X | g.116172356T>G | CA414337542 | AGTR2 | c.76T>G (p.Ser26Ala) n.544T>G | |
| X | g.116172357C>A | CA414337543 | AGTR2 | c.77C>A (p.Ser26Tyr) n.545C>A | |
| X | g.116172357C>G | CA414337544 | AGTR2 | c.77C>G (p.Ser26Cys) n.545C>G | |
| X | g.116172357C>T | CA414337545 | AGTR2 | c.77C>T (p.Ser26Phe) n.545C>T | |
| X | g.116172358T>A | CA518449141 | AGTR2 | c.78T>A (p.Ser26=) n.546T>A | |
| X | g.116172358T>C | CA518449142 | AGTR2 | c.78T>C (p.Ser26=) n.546T>C | gnomAD v4 |
| X | g.116172358T>G | CA518449143 | AGTR2 | c.78T>G (p.Ser26=) n.546T>G | |
| X | g.116172359G>A | CA414337548 | AGTR2 | c.79G>A (p.Gly27Ser) n.547G>A | dbSNP gnomAD v2 |
| X | g.116172359G>C | CA414337547 | AGTR2 | c.79G>C (p.Gly27Arg) n.547G>C | |
| X | g.116172359G= | CA2453331674 | AGTR2 | c.79G= (p.Gly27=) n.547G= | |
| X | g.116172359G>T | CA414337546 | AGTR2 | c.79G>T (p.Gly27Cys) n.547G>T | |
| X | g.116172360G>A | CA414337549 | AGTR2 | c.80G>A (p.Gly27Asp) n.548G>A | |
| X | g.116172360G>C | CA414337551 | AGTR2 | c.80G>C (p.Gly27Ala) n.548G>C | gnomAD v4 |
| X | g.116172360G>T | CA414337550 | AGTR2 | c.80G>T (p.Gly27Val) n.548G>T | |
| X | g.116172361C>A | CA518449144 | AGTR2 | c.81C>A (p.Gly27=) n.549C>A | |
| X | g.116172361C>G | CA518449145 | AGTR2 | c.81C>G (p.Gly27=) n.549C>G | |
| X | g.116172361C>T | CA518449146 | AGTR2 | c.81C>T (p.Gly27=) n.549C>T | |
| X | g.116172364_116172366del | CA2556362418 | AGTR2 | c.84_86del (p.Asn29del) n.552_554del | |
| X | g.116172362A>C | CA414337552 | AGTR2 | c.82A>C (p.Asn28His) n.550A>C | |
| X | g.116172362A>G | CA414337554 | AGTR2 | c.82A>G (p.Asn28Asp) n.550A>G | |
| X | g.116172362A>T | CA414337553 | AGTR2 | c.82A>T (p.Asn28Tyr) n.550A>T | |
| X | g.116172363A= | CA2453331675 | AGTR2 | c.83A= (p.Asn28=) n.551A= | |
| X | g.116172363A>C | CA414337555 | AGTR2 | c.83A>C (p.Asn28Thr) n.551A>C | |
| X | g.116172363A>G | CA334723678 | AGTR2 | c.83A>G (p.Asn28Ser) n.551A>G | dbSNP |
| X | g.116172363A>T | CA414337556 | AGTR2 | c.83A>T (p.Asn28Ile) n.551A>T | gnomAD v4 |
| X | g.116172364C>A | CA414337557 | AGTR2 | c.84C>A (p.Asn28Lys) n.552C>A | |
| X | g.116172364C>G | CA414337558 | AGTR2 | c.84C>G (p.Asn28Lys) n.552C>G | |
| X | g.116172364C>T | CA518449147 | AGTR2 | c.84C>T (p.Asn28=) n.552C>T | |
| X | g.116172365A>C | CA414337559 | AGTR2 | c.85A>C (p.Asn29His) n.553A>C | |
| X | g.116172365A>G | CA414337560 | AGTR2 | c.85A>G (p.Asn29Asp) n.553A>G | |
| X | g.116172365A>T | CA414337561 | AGTR2 | c.85A>T (p.Asn29Tyr) n.553A>T | |
| X | g.116172365_116172367del | CA2694510859 | AGTR2 | c.85_87del (p.Asn29del) n.553_555del | gnomAD v4 |
| X | g.116172366A= | CA2453331676 | AGTR2 | c.86A= (p.Asn29=) n.554A= |