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 |
|---|---|---|---|---|---|
| 14 | g.50153129T>A | CA389644216 | SOS2 | c.2102A>T (p.Asp701Val) c.2003A>T (p.Asp668Val) c.1922A>T (p.Asp641Val) c.2063A>T (p.Asp688Val) | |
| 14 | g.50153129T>C | CA389644214 | SOS2 | c.2102A>G (p.Asp701Gly) c.2003A>G (p.Asp668Gly) c.1922A>G (p.Asp641Gly) c.2063A>G (p.Asp688Gly) | |
| 14 | g.50153129T>G | CA389644215 | SOS2 | c.2102A>C (p.Asp701Ala) c.2003A>C (p.Asp668Ala) c.1922A>C (p.Asp641Ala) c.2063A>C (p.Asp688Ala) | |
| 14 | g.50153130C>A | CA389644217 | SOS2 | c.2101G>T (p.Asp701Tyr) c.2002G>T (p.Asp668Tyr) c.1921G>T (p.Asp641Tyr) c.2062G>T (p.Asp688Tyr) | |
| 14 | g.50153130C>G | CA389644218 | SOS2 | c.2101G>C (p.Asp701His) c.2002G>C (p.Asp668His) c.1921G>C (p.Asp641His) c.2062G>C (p.Asp688His) | |
| 14 | g.50153130C>T | CA389644219 | SOS2 | c.2101G>A (p.Asp701Asn) c.2002G>A (p.Asp668Asn) c.1921G>A (p.Asp641Asn) c.2062G>A (p.Asp688Asn) | |
| 14 | g.50153131A>C | CA389644220 | SOS2 | c.2100T>G (p.Tyr700Ter) c.2001T>G (p.Tyr667Ter) c.1920T>G (p.Tyr640Ter) c.2061T>G (p.Tyr687Ter) | |
| 14 | g.50153131A>G | CA486175141 | SOS2 | c.2100T>C (p.Tyr700=) c.2001T>C (p.Tyr667=) c.1920T>C (p.Tyr640=) c.2061T>C (p.Tyr687=) | gnomAD v4 |
| 14 | g.50153131A>T | CA389644221 | SOS2 | c.2100T>A (p.Tyr700Ter) c.2001T>A (p.Tyr667Ter) c.1920T>A (p.Tyr640Ter) c.2061T>A (p.Tyr687Ter) | gnomAD v4 |
| 14 | g.50153132T>A | CA389644222 | SOS2 | c.2099A>T (p.Tyr700Phe) c.2000A>T (p.Tyr667Phe) c.1919A>T (p.Tyr640Phe) c.2060A>T (p.Tyr687Phe) | |
| 14 | g.50153132T>C | CA7177128 | SOS2 | c.2099A>G (p.Tyr700Cys) c.2000A>G (p.Tyr667Cys) c.1919A>G (p.Tyr640Cys) c.2060A>G (p.Tyr687Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50153132T>G | CA389644223 | SOS2 | c.2099A>C (p.Tyr700Ser) c.2000A>C (p.Tyr667Ser) c.1919A>C (p.Tyr640Ser) c.2060A>C (p.Tyr687Ser) | |
| 14 | g.50153132T= | CA2136066076 | SOS2 | c.2099A= (p.Tyr700=) c.2000A= (p.Tyr667=) c.1919A= (p.Tyr640=) c.2060A= (p.Tyr687=) | |
| 14 | g.50153133A>C | CA389644224 | SOS2 | c.2098T>G (p.Tyr700Asp) c.1999T>G (p.Tyr667Asp) c.1918T>G (p.Tyr640Asp) c.2059T>G (p.Tyr687Asp) | |
| 14 | g.50153133A>G | CA389644226 | SOS2 | c.2098T>C (p.Tyr700His) c.1999T>C (p.Tyr667His) c.1918T>C (p.Tyr640His) c.2059T>C (p.Tyr687His) | |
| 14 | g.50153133A>T | CA389644225 | SOS2 | c.2098T>A (p.Tyr700Asn) c.1999T>A (p.Tyr667Asn) c.1918T>A (p.Tyr640Asn) c.2059T>A (p.Tyr687Asn) | |
| 14 | g.50153137del | CA2624771480 | SOS2 | c.2098del (p.Tyr700MetfsTer13) c.1999del (p.Tyr667MetfsTer13) c.1918del (p.Tyr640MetfsTer13) c.2059del (p.Tyr687MetfsTer13) | gnomAD v4 |
| 14 | g.50153134A>C | CA389644227 | SOS2 | c.2097T>G (p.Phe699Leu) c.1998T>G (p.Phe666Leu) c.1917T>G (p.Phe639Leu) c.2058T>G (p.Phe686Leu) | |
| 14 | g.50153134A>G | CA486175142 | SOS2 | c.2097T>C (p.Phe699=) c.1998T>C (p.Phe666=) c.1917T>C (p.Phe639=) c.2058T>C (p.Phe686=) | |
| 14 | g.50153134A>T | CA389644228 | SOS2 | c.2097T>A (p.Phe699Leu) c.1998T>A (p.Phe666Leu) c.1917T>A (p.Phe639Leu) c.2058T>A (p.Phe686Leu) | |
| 14 | g.50153135A>C | CA389644229 | SOS2 | c.2096T>G (p.Phe699Cys) c.1997T>G (p.Phe666Cys) c.1916T>G (p.Phe639Cys) c.2057T>G (p.Phe686Cys) | |
| 14 | g.50153135A>G | CA389644230 | SOS2 | c.2096T>C (p.Phe699Ser) c.1997T>C (p.Phe666Ser) c.1916T>C (p.Phe639Ser) c.2057T>C (p.Phe686Ser) | |
| 14 | g.50153135A>T | CA389644231 | SOS2 | c.2096T>A (p.Phe699Tyr) c.1997T>A (p.Phe666Tyr) c.1916T>A (p.Phe639Tyr) c.2057T>A (p.Phe686Tyr) | |
| 14 | g.50153136A>C | CA389644232 | SOS2 | c.2095T>G (p.Phe699Val) c.1996T>G (p.Phe666Val) c.1915T>G (p.Phe639Val) c.2056T>G (p.Phe686Val) | |
| 14 | g.50153136A>G | CA389644233 | SOS2 | c.2095T>C (p.Phe699Leu) c.1996T>C (p.Phe666Leu) c.1915T>C (p.Phe639Leu) c.2056T>C (p.Phe686Leu) | |
| 14 | g.50153136A>T | CA389644234 | SOS2 | c.2095T>A (p.Phe699Ile) c.1996T>A (p.Phe666Ile) c.1915T>A (p.Phe639Ile) c.2056T>A (p.Phe686Ile) | |
| 14 | g.50153137A= | CA2136066077 | SOS2 | c.2094T= (p.His698=) c.1995T= (p.His665=) c.1914T= (p.His638=) c.2055T= (p.His685=) | |
| 14 | g.50153137A>C | CA389644235 | SOS2 | c.2094T>G (p.His698Gln) c.1995T>G (p.His665Gln) c.1914T>G (p.His638Gln) c.2055T>G (p.His685Gln) | |
| 14 | g.50153137A>G | CA7177129 | SOS2 | c.2094T>C (p.His698=) c.1995T>C (p.His665=) c.1914T>C (p.His638=) c.2055T>C (p.His685=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50153137A>T | CA389644236 | SOS2 | c.2094T>A (p.His698Gln) c.1995T>A (p.His665Gln) c.1914T>A (p.His638Gln) c.2055T>A (p.His685Gln) | |
| 14 | g.50153140_50153142del | CA2624771481 | SOS2 | c.2092_2094del (p.His698del) c.1993_1995del (p.His665del) c.1912_1914del (p.His638del) c.2053_2055del (p.His685del) | gnomAD v4 |
| 14 | g.50153138T>A | CA389644239 | SOS2 | c.2093A>T (p.His698Leu) c.1994A>T (p.His665Leu) c.1913A>T (p.His638Leu) c.2054A>T (p.His685Leu) | |
| 14 | g.50153138T>C | CA389644237 | SOS2 | c.2093A>G (p.His698Arg) c.1994A>G (p.His665Arg) c.1913A>G (p.His638Arg) c.2054A>G (p.His685Arg) | |
| 14 | g.50153138T>G | CA389644238 | SOS2 | c.2093A>C (p.His698Pro) c.1994A>C (p.His665Pro) c.1913A>C (p.His638Pro) c.2054A>C (p.His685Pro) | |
| 14 | g.50153139G>A | CA389644240 | SOS2 | c.2092C>T (p.His698Tyr) c.1993C>T (p.His665Tyr) c.1912C>T (p.His638Tyr) c.2053C>T (p.His685Tyr) | COSMIC COSMIC |
| 14 | g.50153139G>C | CA389644241 | SOS2 | c.2092C>G (p.His698Asp) c.1993C>G (p.His665Asp) c.1912C>G (p.His638Asp) c.2053C>G (p.His685Asp) | dbSNP |
| 14 | g.50153139G= | CA2136066078 | SOS2 | c.2092C= (p.His698=) c.1993C= (p.His665=) c.1912C= (p.His638=) c.2053C= (p.His685=) | |
| 14 | g.50153139G>T | CA389644242 | SOS2 | c.2092C>A (p.His698Asn) c.1993C>A (p.His665Asn) c.1912C>A (p.His638Asn) c.2053C>A (p.His685Asn) | |
| 14 | g.50153140A>C | CA389644243 | SOS2 | c.2091T>G (p.His697Gln) c.1992T>G (p.His664Gln) c.1911T>G (p.His637Gln) c.2052T>G (p.His684Gln) | gnomAD v4 |
| 14 | g.50153140A>G | CA486175143 | SOS2 | c.2091T>C (p.His697=) c.1992T>C (p.His664=) c.1911T>C (p.His637=) c.2052T>C (p.His684=) | |
| 14 | g.50153140A>T | CA389644244 | SOS2 | c.2091T>A (p.His697Gln) c.1992T>A (p.His664Gln) c.1911T>A (p.His637Gln) c.2052T>A (p.His684Gln) | |
| 14 | g.50153141T>A | CA389644245 | SOS2 | c.2090A>T (p.His697Leu) c.1991A>T (p.His664Leu) c.1910A>T (p.His637Leu) c.2051A>T (p.His684Leu) | gnomAD v4 |
| 14 | g.50153141T>C | CA389644246 | SOS2 | c.2090A>G (p.His697Arg) c.1991A>G (p.His664Arg) c.1910A>G (p.His637Arg) c.2051A>G (p.His684Arg) | |
| 14 | g.50153141T>G | CA389644247 | SOS2 | c.2090A>C (p.His697Pro) c.1991A>C (p.His664Pro) c.1910A>C (p.His637Pro) c.2051A>C (p.His684Pro) | gnomAD v4 |
| 14 | g.50153142G>A | CA389644248 | SOS2 | c.2089C>T (p.His697Tyr) c.1990C>T (p.His664Tyr) c.1909C>T (p.His637Tyr) c.2050C>T (p.His684Tyr) | gnomAD v4 |
| 14 | g.50153142G>C | CA389644249 | SOS2 | c.2089C>G (p.His697Asp) c.1990C>G (p.His664Asp) c.1909C>G (p.His637Asp) c.2050C>G (p.His684Asp) | |
| 14 | g.50153142G>T | CA389644250 | SOS2 | c.2089C>A (p.His697Asn) c.1990C>A (p.His664Asn) c.1909C>A (p.His637Asn) c.2050C>A (p.His684Asn) | |
| 14 | g.50153143T>A | CA389644252 | SOS2 | c.2088A>T (p.Glu696Asp) c.1989A>T (p.Glu663Asp) c.1908A>T (p.Glu636Asp) c.2049A>T (p.Glu683Asp) | |
| 14 | g.50153143T>C | CA486175144 | SOS2 | c.2088A>G (p.Glu696=) c.1989A>G (p.Glu663=) c.1908A>G (p.Glu636=) c.2049A>G (p.Glu683=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50153143T>G | CA389644251 | SOS2 | c.2088A>C (p.Glu696Asp) c.1989A>C (p.Glu663Asp) c.1908A>C (p.Glu636Asp) c.2049A>C (p.Glu683Asp) | dbSNP |