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 |
|---|---|---|---|---|---|
| 13 | g.32370402_32380145del | CA2581463483 | BRCA2 | c.8332_9256del c.8332_*623del c.7963_8887del c.8332_*818del c.8332_9205del c.799_1672del c.8340_9264del c.897_2134del c.8236_9160del | |
| 13 | g.32370503_32371631dup | CA2580087371 | BRCA2 | c.8433_8632+531dup c.8064_8263+531dup c.900_1099+531dup c.8441_8640+531dup c.998_1197+531dup c.8337_8536+531dup | ClinVar |
| 13 | g.32370998G>A | CA6941257 | BRCA2 | c.8530G>A (p.Glu2844Lys) c.8161G>A (p.Glu2721Lys) c.997G>A (p.Glu333Lys) c.8538G>A (n.8538G>A) c.1095G>A c.28G>A (p.Glu10Lys) c.8434G>A (p.Glu2812Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32370998G>C | CA387752735 | BRCA2 | c.8530G>C (p.Glu2844Gln) c.8161G>C (p.Glu2721Gln) c.997G>C (p.Glu333Gln) c.8538G>C (n.8538G>C) c.1095G>C c.28G>C (p.Glu10Gln) c.8434G>C (p.Glu2812Gln) | |
| 13 | g.32370998G= | CA2082815616 | BRCA2 | c.8530G= (p.Glu2844=) c.8161G= (p.Glu2721=) c.997G= (p.Glu333=) c.8538G= (n.8538G=) c.1095G= c.28G= (p.Glu10=) c.8434G= (p.Glu2812=) | |
| 13 | g.32370998G>T | CA387752734 | BRCA2 | c.8530G>T (p.Glu2844Ter) c.8161G>T (p.Glu2721Ter) c.997G>T (p.Glu333Ter) c.8538G>T (n.8538G>T) c.1095G>T c.28G>T (p.Glu10Ter) c.8434G>T (p.Glu2812Ter) | |
| 13 | g.32370998_32371000delinsGAA | CA2082815615 | BRCA2 | c.8530_8532delinsGAA (p.Glu2844=) c.8161_8163delinsGAA (p.Glu2721=) c.997_999delinsGAA (p.Glu333=) c.8538_8540delinsGAA (n.8538_8540delinsGAA) c.1095_1097delinsGAA c.28_30delinsGAA (p.Glu10=) c.8434_8436delinsGAA (p.Glu2812=) | |
| 13 | g.32370999A= | CA2082815637 | BRCA2 | c.8531A= (p.Glu2844=) c.8162A= (p.Glu2721=) c.998A= (p.Glu333=) c.8539A= (n.8539A=) c.1096A= c.29A= (p.Glu10=) c.8435A= (p.Glu2812=) | |
| 13 | g.32370999A>C | CA387752736 | BRCA2 | c.8531A>C (p.Glu2844Ala) c.8162A>C (p.Glu2721Ala) c.998A>C (p.Glu333Ala) c.8539A>C (n.8539A>C) c.1096A>C c.29A>C (p.Glu10Ala) c.8435A>C (p.Glu2812Ala) | ClinVar dbSNP |
| 13 | g.32370999A>G | CA247484126 | BRCA2 | c.8531A>G (p.Glu2844Gly) c.8162A>G (p.Glu2721Gly) c.998A>G (p.Glu333Gly) c.8539A>G (n.8539A>G) c.1096A>G c.29A>G (p.Glu10Gly) c.8435A>G (p.Glu2812Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32370999A>T | CA387752737 | BRCA2 | c.8531A>T (p.Glu2844Val) c.8162A>T (p.Glu2721Val) c.998A>T (p.Glu333Val) c.8539A>T (n.8539A>T) c.1096A>T c.29A>T (p.Glu10Val) c.8435A>T (p.Glu2812Val) | |
| 13 | g.32371001dup | CA645509336 | BRCA2 | c.8533dup (p.Arg2845LysfsTer24) c.8164dup (p.Arg2722LysfsTer24) c.1000dup (p.Arg334LysfsTer24) c.8541dup (n.8541dup) c.1098dup c.31dup (p.Arg11LysfsTer24) c.8437dup (p.Arg2813LysfsTer24) | ClinVar dbSNP |
| 13 | g.32371001del | CA2695199703 | BRCA2 | c.8533del (p.Arg2845GlufsTer18) c.8164del (p.Arg2722GlufsTer18) c.1000del (p.Arg334GlufsTer18) c.8541del (n.8541del) c.1098del c.31del (p.Arg11GlufsTer18) c.8437del (p.Arg2813GlufsTer18) | ClinVar |
| 13 | g.32371000_32371001del | CA025696 | BRCA2 | c.8532_8533del (p.Glu2846GlyfsTer22) c.8163_8164del (p.Glu2723GlyfsTer22) c.999_1000del (p.Glu335GlyfsTer22) c.8540_8541del (n.8540_8541del) c.1097_1098del c.30_31del (p.Glu12GlyfsTer22) c.8436_8437del (p.Glu2814GlyfsTer22) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371000_32371014del | CA2697551753 | BRCA2 | c.8532_8546del (p.Arg2845_Lys2849del) c.8163_8177del (p.Arg2722_Lys2726del) c.999_1013del (p.Arg334_Lys338del) c.8540_8554del (n.8540_8554del) c.1097_1111del c.30_44del (p.Arg11_Lys15del) c.8436_8450del (p.Arg2813_Lys2817del) | ClinVar |
| 13 | g.32371000A>C | CA387752738 | BRCA2 | c.8532A>C (p.Glu2844Asp) c.8163A>C (p.Glu2721Asp) c.999A>C (p.Glu333Asp) c.8540A>C (n.8540A>C) c.1097A>C c.30A>C (p.Glu10Asp) c.8436A>C (p.Glu2812Asp) | |
| 13 | g.32371000A>G | CA483261511 | BRCA2 | c.8532A>G (p.Glu2844=) c.8163A>G (p.Glu2721=) c.999A>G (p.Glu333=) c.8540A>G (n.8540A>G) c.1097A>G c.30A>G (p.Glu10=) c.8436A>G (p.Glu2812=) | gnomAD v4 |
| 13 | g.32371000A>T | CA387752739 | BRCA2 | c.8532A>T (p.Glu2844Asp) c.8163A>T (p.Glu2721Asp) c.999A>T (p.Glu333Asp) c.8540A>T (n.8540A>T) c.1097A>T c.30A>T (p.Glu10Asp) c.8436A>T (p.Glu2812Asp) | |
| 13 | g.32371000_32371004delinsAAGAG | CA2082815646 | BRCA2 | c.8532_8536delinsAAGAG (p.Glu2844=) c.8163_8167delinsAAGAG (p.Glu2721=) c.999_1003delinsAAGAG (p.Glu333=) c.8540_8544delinsAAGAG (n.8540_8544delinsAAGAG) c.1097_1101delinsAAGAG c.30_34delinsAAGAG (p.Glu10=) c.8436_8440delinsAAGAG (p.Glu2812=) | |
| 13 | g.32371001A>C | CA483261512 | BRCA2 | c.8533A>C (p.Arg2845=) c.8164A>C (p.Arg2722=) c.1000A>C (p.Arg334=) c.8541A>C (n.8541A>C) c.1098A>C c.31A>C (p.Arg11=) c.8437A>C (p.Arg2813=) | |
| 13 | g.32371001A>G | CA387752740 | BRCA2 | c.8533A>G (p.Arg2845Gly) c.8164A>G (p.Arg2722Gly) c.1000A>G (p.Arg334Gly) c.8541A>G (n.8541A>G) c.1098A>G c.31A>G (p.Arg11Gly) c.8437A>G (p.Arg2813Gly) | dbSNP |
| 13 | g.32371001A>T | CA387752741 | BRCA2 | c.8533A>T (p.Arg2845Ter) c.8164A>T (p.Arg2722Ter) c.1000A>T (p.Arg334Ter) c.8541A>T (n.8541A>T) c.1098A>T c.31A>T (p.Arg11Ter) c.8437A>T (p.Arg2813Ter) | |
| 13 | g.32371005_32371006del | CA025697 | BRCA2 | c.8537_8538del (p.Glu2846GlyfsTer22) c.8168_8169del (p.Glu2723GlyfsTer22) c.1004_1005del (p.Glu335GlyfsTer22) c.8545_8546del (n.8545_8546del) c.1102_1103del c.35_36del (p.Glu12GlyfsTer22) c.8441_8442del (p.Glu2814GlyfsTer22) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32371003_32371006del | CA025698 | BRCA2 | c.8535_8538del (p.Glu2846LysfsTer16) c.8166_8169del (p.Glu2723LysfsTer16) c.1002_1005del (p.Glu335LysfsTer16) c.8543_8546del (n.8543_8546del) c.1100_1103del c.33_36del (p.Glu12LysfsTer16) c.8439_8442del (p.Glu2814LysfsTer16) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371002G>A | CA387752742 | BRCA2 | c.8534G>A (p.Arg2845Lys) c.8165G>A (p.Arg2722Lys) c.1001G>A (p.Arg334Lys) c.8542G>A (n.8542G>A) c.1099G>A c.32G>A (p.Arg11Lys) c.8438G>A (p.Arg2813Lys) | ClinVar |
| 13 | g.32371002G>C | CA387752743 | BRCA2 | c.8534G>C (p.Arg2845Thr) c.8165G>C (p.Arg2722Thr) c.1001G>C (p.Arg334Thr) c.8542G>C (n.8542G>C) c.1099G>C c.32G>C (p.Arg11Thr) c.8438G>C (p.Arg2813Thr) | |
| 13 | g.32371002G>T | CA387752744 | BRCA2 | c.8534G>T (p.Arg2845Ile) c.8165G>T (p.Arg2722Ile) c.1001G>T (p.Arg334Ile) c.8542G>T (n.8542G>T) c.1099G>T c.32G>T (p.Arg11Ile) c.8438G>T (p.Arg2813Ile) | |
| 13 | g.32371002_32371003insTCGC | CA2538391578 | BRCA2 | c.8534_8535insTCGC (p.Arg2845SerfsTer25) c.8165_8166insTCGC (p.Arg2722SerfsTer25) c.1001_1002insTCGC (p.Arg334SerfsTer25) c.8542_8543insTCGC (n.8542_8543insTCGC) c.1099_1100insTCGC c.32_33insTCGC (p.Arg11SerfsTer25) c.8438_8439insTCGC (p.Arg2813SerfsTer25) | |
| 13 | g.32371003del | CA2575388009 | BRCA2 | c.8535del (p.Glu2846ArgfsTer17) c.8166del (p.Glu2723ArgfsTer17) c.1002del (p.Glu335ArgfsTer17) c.8543del (n.8543del) c.1100del c.33del (p.Glu12ArgfsTer17) c.8439del (p.Glu2814ArgfsTer17) | ClinVar |
| 13 | g.32371003A>C | CA387752745 | BRCA2 | c.8535A>C (p.Arg2845Ser) c.8166A>C (p.Arg2722Ser) c.1002A>C (p.Arg334Ser) c.8543A>C (n.8543A>C) c.1100A>C c.33A>C (p.Arg11Ser) c.8439A>C (p.Arg2813Ser) | |
| 13 | g.32371003A>G | CA483261513 | BRCA2 | c.8535A>G (p.Arg2845=) c.8166A>G (p.Arg2722=) c.1002A>G (p.Arg334=) c.8543A>G (n.8543A>G) c.1100A>G c.33A>G (p.Arg11=) c.8439A>G (p.Arg2813=) | |
| 13 | g.32371003A>T | CA387752746 | BRCA2 | c.8535A>T (p.Arg2845Ser) c.8166A>T (p.Arg2722Ser) c.1002A>T (p.Arg334Ser) c.8543A>T (n.8543A>T) c.1100A>T c.33A>T (p.Arg11Ser) c.8439A>T (p.Arg2813Ser) | dbSNP |
| 13 | g.32371004G>A | CA387752748 | BRCA2 | c.8536G>A (p.Glu2846Lys) c.8167G>A (p.Glu2723Lys) c.1003G>A (p.Glu335Lys) c.8544G>A (n.8544G>A) c.1101G>A c.34G>A (p.Glu12Lys) c.8440G>A (p.Glu2814Lys) | dbSNP |
| 13 | g.32371004G>C | CA387752747 | BRCA2 | c.8536G>C (p.Glu2846Gln) c.8167G>C (p.Glu2723Gln) c.1003G>C (p.Glu335Gln) c.8544G>C (n.8544G>C) c.1101G>C c.34G>C (p.Glu12Gln) c.8440G>C (p.Glu2814Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32371004G= | CA2082815654 | BRCA2 | c.8536G= (p.Glu2846=) c.8167G= (p.Glu2723=) c.1003G= (p.Glu335=) c.8544G= (n.8544G=) c.1101G= c.34G= (p.Glu12=) c.8440G= (p.Glu2814=) | |
| 13 | g.32371004G>T | CA10589506 | BRCA2 | c.8536G>T (p.Glu2846Ter) c.8167G>T (p.Glu2723Ter) c.1003G>T (p.Glu335Ter) c.8544G>T (n.8544G>T) c.1101G>T c.34G>T (p.Glu12Ter) c.8440G>T (p.Glu2814Ter) | ClinVar dbSNP |
| 13 | g.32371004_32371005insCATATCACC | CA2525526208 | BRCA2 | c.8536_8537insCATATCACC (p.Glu2846delinsAlaTyrHisGln) c.8167_8168insCATATCACC (p.Glu2723delinsAlaTyrHisGln) c.1003_1004insCATATCACC (p.Glu335delinsAlaTyrHisGln) c.8544_8545insCATATCACC (n.8544_8545insCATATCACC) c.1101_1102insCATATCACC c.34_35insCATATCACC (p.Glu12delinsAlaTyrHisGln) c.8440_8441insCATATCACC (p.Glu2814delinsAlaTyrHisGln) | |
| 13 | g.32371005A>C | CA387752749 | BRCA2 | c.8537A>C (p.Glu2846Ala) c.8168A>C (p.Glu2723Ala) c.1004A>C (p.Glu335Ala) c.8545A>C (n.8545A>C) c.1102A>C c.35A>C (p.Glu12Ala) c.8441A>C (p.Glu2814Ala) | |
| 13 | g.32371005A>G | CA387752750 | BRCA2 | c.8537A>G (p.Glu2846Gly) c.8168A>G (p.Glu2723Gly) c.1004A>G (p.Glu335Gly) c.8545A>G (n.8545A>G) c.1102A>G c.35A>G (p.Glu12Gly) c.8441A>G (p.Glu2814Gly) | dbSNP |
| 13 | g.32371005A>T | CA387752751 | BRCA2 | c.8537A>T (p.Glu2846Val) c.8168A>T (p.Glu2723Val) c.1004A>T (p.Glu335Val) c.8545A>T (n.8545A>T) c.1102A>T c.35A>T (p.Glu12Val) c.8441A>T (p.Glu2814Val) | |
| 13 | g.32371006G>A | CA483261514 | BRCA2 | c.8538G>A (p.Glu2846=) c.8169G>A (p.Glu2723=) c.1005G>A (p.Glu335=) c.8546G>A (n.8546G>A) c.1103G>A c.36G>A (p.Glu12=) c.8442G>A (p.Glu2814=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371006G>C | CA387752752 | BRCA2 | c.8538G>C (p.Glu2846Asp) c.8169G>C (p.Glu2723Asp) c.1005G>C (p.Glu335Asp) c.8546G>C (n.8546G>C) c.1103G>C c.36G>C (p.Glu12Asp) c.8442G>C (p.Glu2814Asp) | |
| 13 | g.32371006G= | CA2082815658 | BRCA2 | c.8538G= (p.Glu2846=) c.8169G= (p.Glu2723=) c.1005G= (p.Glu335=) c.8546G= (n.8546G=) c.1103G= c.36G= (p.Glu12=) c.8442G= (p.Glu2814=) | |
| 13 | g.32371006G>T | CA387752753 | BRCA2 | c.8538G>T (p.Glu2846Asp) c.8169G>T (p.Glu2723Asp) c.1005G>T (p.Glu335Asp) c.8546G>T (n.8546G>T) c.1103G>T c.36G>T (p.Glu12Asp) c.8442G>T (p.Glu2814Asp) | dbSNP |
| 13 | g.32371007G>A | CA025700 | BRCA2 | c.8539G>A (p.Glu2847Lys) c.8170G>A (p.Glu2724Lys) c.1006G>A (p.Glu336Lys) c.8547G>A (n.8547G>A) c.1104G>A c.37G>A (p.Glu13Lys) c.8443G>A (p.Glu2815Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32371007G>C | CA387752754 | BRCA2 | c.8539G>C (p.Glu2847Gln) c.8170G>C (p.Glu2724Gln) c.1006G>C (p.Glu336Gln) c.8547G>C (n.8547G>C) c.1104G>C c.37G>C (p.Glu13Gln) c.8443G>C (p.Glu2815Gln) | dbSNP |
| 13 | g.32371007G= | CA2082815669 | BRCA2 | c.8539G= (p.Glu2847=) c.8170G= (p.Glu2724=) c.1006G= (p.Glu336=) c.8547G= (n.8547G=) c.1104G= c.37G= (p.Glu13=) c.8443G= (p.Glu2815=) | |
| 13 | g.32371007G>T | CA387752755 | BRCA2 | c.8539G>T (p.Glu2847Ter) c.8170G>T (p.Glu2724Ter) c.1006G>T (p.Glu336Ter) c.8547G>T (n.8547G>T) c.1104G>T c.37G>T (p.Glu13Ter) c.8443G>T (p.Glu2815Ter) | |
| 13 | g.32371008A>C | CA387752756 | BRCA2 | c.8540A>C (p.Glu2847Ala) c.8171A>C (p.Glu2724Ala) c.1007A>C (p.Glu336Ala) c.8548A>C (n.8548A>C) c.1105A>C c.38A>C (p.Glu13Ala) c.8444A>C (p.Glu2815Ala) | ClinVar |
| 13 | g.32371008A>G | CA387752757 | BRCA2 | c.8540A>G (p.Glu2847Gly) c.8171A>G (p.Glu2724Gly) c.1007A>G (p.Glu336Gly) c.8548A>G (n.8548A>G) c.1105A>G c.38A>G (p.Glu13Gly) c.8444A>G (p.Glu2815Gly) |