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 |
|---|---|---|---|---|---|
| 7 | g.152648758T>A | CA370198073 | XRCC2 | c.559A>T (p.Lys187Ter) c.727A>T (p.Lys243Ter) n.749A>T | |
| 7 | g.152648758T>C | CA370198074 | XRCC2 | c.559A>G (p.Lys187Glu) c.727A>G (p.Lys243Glu) n.749A>G | ClinVar |
| 7 | g.152648758T>G | CA370198075 | XRCC2 | c.559A>C (p.Lys187Gln) c.727A>C (p.Lys243Gln) n.749A>C | |
| 7 | g.152648759G>A | CA458895257 | XRCC2 | c.558C>T (p.Ser186=) c.726C>T (p.Ser242=) n.748C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.152648759G>C | CA458895259 | XRCC2 | c.558C>G (p.Ser186=) c.726C>G (p.Ser242=) n.748C>G | |
| 7 | g.152648759G>T | CA458895258 | XRCC2 | c.558C>A (p.Ser186=) c.726C>A (p.Ser242=) n.748C>A | |
| 7 | g.152648760G>A | CA370198078 | XRCC2 | c.557C>T (p.Ser186Phe) c.725C>T (p.Ser242Phe) n.747C>T | ClinVar dbSNP |
| 7 | g.152648760G>C | CA370198077 | XRCC2 | c.557C>G (p.Ser186Cys) c.725C>G (p.Ser242Cys) n.747C>G | |
| 7 | g.152648760G= | CA1753246712 | XRCC2 | c.557C= (p.Ser186=) c.725C= (p.Ser242=) n.747C= | |
| 7 | g.152648760G>T | CA370198076 | XRCC2 | c.557C>A (p.Ser186Tyr) c.725C>A (p.Ser242Tyr) n.747C>A | dbSNP |
| 7 | g.152648761A>C | CA370198079 | XRCC2 | c.556T>G (p.Ser186Ala) c.724T>G (p.Ser242Ala) n.746T>G | |
| 7 | g.152648761A>G | CA370198080 | XRCC2 | c.556T>C (p.Ser186Pro) c.724T>C (p.Ser242Pro) n.746T>C | |
| 7 | g.152648761A>T | CA370198081 | XRCC2 | c.556T>A (p.Ser186Thr) c.724T>A (p.Ser242Thr) n.746T>A | |
| 7 | g.152648762G>A | CA4582306 | XRCC2 | c.555C>T (p.Phe185=) c.723C>T (p.Phe241=) n.745C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.152648762G>C | CA370198082 | XRCC2 | c.555C>G (p.Phe185Leu) c.723C>G (p.Phe241Leu) n.745C>G | |
| 7 | g.152648762G= | CA1753246717 | XRCC2 | c.555C= (p.Phe185=) c.723C= (p.Phe241=) n.745C= | |
| 7 | g.152648762G>T | CA370198083 | XRCC2 | c.555C>A (p.Phe185Leu) c.723C>A (p.Phe241Leu) n.745C>A | |
| 7 | g.152648763A>C | CA370198084 | XRCC2 | c.554T>G (p.Phe185Cys) c.722T>G (p.Phe241Cys) n.744T>G | |
| 7 | g.152648763A>G | CA370198086 | XRCC2 | c.554T>C (p.Phe185Ser) c.722T>C (p.Phe241Ser) n.744T>C | |
| 7 | g.152648763A>T | CA370198085 | XRCC2 | c.554T>A (p.Phe185Tyr) c.722T>A (p.Phe241Tyr) n.744T>A | |
| 7 | g.152648764A>C | CA370198087 | XRCC2 | c.553T>G (p.Phe185Val) c.721T>G (p.Phe241Val) n.743T>G | |
| 7 | g.152648764A>G | CA370198088 | XRCC2 | c.553T>C (p.Phe185Leu) c.721T>C (p.Phe241Leu) n.743T>C | |
| 7 | g.152648764A>T | CA370198089 | XRCC2 | c.553T>A (p.Phe185Ile) c.721T>A (p.Phe241Ile) n.743T>A | |
| 7 | g.152648765A= | CA1753246720 | XRCC2 | c.552T= (p.Phe184=) c.720T= (p.Phe240=) n.742T= | |
| 7 | g.152648765A>C | CA370198090 | XRCC2 | c.552T>G (p.Phe184Leu) c.720T>G (p.Phe240Leu) n.742T>G | |
| 7 | g.152648765A>G | CA16605087 | XRCC2 | c.552T>C (p.Phe184=) c.720T>C (p.Phe240=) n.742T>C | ClinVar dbSNP |
| 7 | g.152648765A>T | CA370198091 | XRCC2 | c.552T>A (p.Phe184Leu) c.720T>A (p.Phe240Leu) n.742T>A | |
| 7 | g.152648766A>C | CA370198092 | XRCC2 | c.551T>G (p.Phe184Cys) c.719T>G (p.Phe240Cys) n.741T>G | |
| 7 | g.152648766A>G | CA370198093 | XRCC2 | c.551T>C (p.Phe184Ser) c.719T>C (p.Phe240Ser) n.741T>C | |
| 7 | g.152648766A>T | CA370198094 | XRCC2 | c.551T>A (p.Phe184Tyr) c.719T>A (p.Phe240Tyr) n.741T>A | |
| 7 | g.152648767A>C | CA370198095 | XRCC2 | c.550T>G (p.Phe184Val) c.718T>G (p.Phe240Val) n.740T>G | ClinVar |
| 7 | g.152648767A>G | CA370198096 | XRCC2 | c.550T>C (p.Phe184Leu) c.718T>C (p.Phe240Leu) n.740T>C | |
| 7 | g.152648767A>T | CA370198097 | XRCC2 | c.550T>A (p.Phe184Ile) c.718T>A (p.Phe240Ile) n.740T>A | |
| 7 | g.152648768C>A | CA370198098 | XRCC2 | c.549G>T (p.Met183Ile) c.717G>T (p.Met239Ile) n.739G>T | |
| 7 | g.152648768C>G | CA370198100 | XRCC2 | c.549G>C (p.Met183Ile) c.717G>C (p.Met239Ile) n.739G>C | |
| 7 | g.152648768C>T | CA370198099 | XRCC2 | c.549G>A (p.Met183Ile) c.717G>A (p.Met239Ile) n.739G>A | |
| 7 | g.152648769A>C | CA370198101 | XRCC2 | c.548T>G (p.Met183Arg) c.716T>G (p.Met239Arg) n.738T>G | |
| 7 | g.152648769A>G | CA370198102 | XRCC2 | c.548T>C (p.Met183Thr) c.716T>C (p.Met239Thr) n.738T>C | |
| 7 | g.152648769A>T | CA370198103 | XRCC2 | c.548T>A (p.Met183Lys) c.716T>A (p.Met239Lys) n.738T>A | |
| 7 | g.152648770T>A | CA370198104 | XRCC2 | c.547A>T (p.Met183Leu) c.715A>T (p.Met239Leu) n.737A>T | |
| 7 | g.152648770T>C | CA370198105 | XRCC2 | c.547A>G (p.Met183Val) c.715A>G (p.Met239Val) n.737A>G | dbSNP |
| 7 | g.152648770T>G | CA370198106 | XRCC2 | c.547A>C (p.Met183Leu) c.715A>C (p.Met239Leu) n.737A>C | |
| 7 | g.152648770T= | CA1753246725 | XRCC2 | c.547A= (p.Met183=) c.715A= (p.Met239=) n.737A= | |
| 7 | g.152648771C>A | CA370198107 | XRCC2 | c.546G>T (p.Arg182Ser) c.714G>T (p.Arg238Ser) n.736G>T | dbSNP |
| 7 | g.152648771C= | CA1753246730 | XRCC2 | c.546G= (p.Arg182=) c.714G= (p.Arg238=) n.736G= | |
| 7 | g.152648771C>G | CA4582307 | XRCC2 | c.546G>C (p.Arg182Ser) c.714G>C (p.Arg238Ser) n.736G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.152648771C>T | CA458895268 | XRCC2 | c.546G>A (p.Arg182=) c.714G>A (p.Arg238=) n.736G>A | gnomAD v4 |
| 7 | g.152648772C>A | CA370198108 | XRCC2 | c.545G>T (p.Arg182Met) c.713G>T (p.Arg238Met) n.735G>T | |
| 7 | g.152648772C= | CA1753246739 | XRCC2 | c.545G= (p.Arg182=) c.713G= (p.Arg238=) n.735G= | |
| 7 | g.152648772C>G | CA370198109 | XRCC2 | c.545G>C (p.Arg182Thr) c.713G>C (p.Arg238Thr) n.735G>C |