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 |
|---|---|---|---|---|---|
| 2 | g.156579109T>A | CA348664731 | GPD2 | c.1904T>A (p.Phe635Tyr) c.1526T>A (p.Phe509Tyr) n.342T>A n.27T>A c.*18T>A (n.*18T>A) c.1802T>A (p.Phe601Tyr) c.1223T>A (p.Phe408Tyr) | dbSNP |
| 2 | g.156579109T>C | CA126187 | GPD2 | c.1904T>C (p.Phe635Ser) c.1526T>C (p.Phe509Ser) n.342T>C n.27T>C c.*18T>C (n.*18T>C) c.1802T>C (p.Phe601Ser) c.1223T>C (p.Phe408Ser) | ClinVar dbSNP |
| 2 | g.156579109T>G | CA348664734 | GPD2 | c.1904T>G (p.Phe635Cys) c.1526T>G (p.Phe509Cys) n.342T>G n.27T>G c.*18T>G (n.*18T>G) c.1802T>G (p.Phe601Cys) c.1223T>G (p.Phe408Cys) | |
| 2 | g.156579109T= | CA1300570931 | GPD2 | c.1904T= (p.Phe635=) c.1526T= (p.Phe509=) n.342T= n.27T= c.*18T= (n.*18T=) c.1802T= (p.Phe601=) c.1223T= (p.Phe408=) | |
| 2 | g.156579109_156579110insCAAAGACACA | CA537505632 | GPD2 | c.1904_1905insCAAAGACACA (p.Asp636LysfsTer4) c.1526_1527insCAAAGACACA (p.Asp510LysfsTer4) n.342_343insCAAAGACACA n.27_28insCAAAGACACA c.*18_*19insCAAAGACACA (n.*18_*19insCAAAGACACA) c.1802_1803insCAAAGACACA (p.Asp602LysfsTer4) c.1223_1224insCAAAGACACA (p.Asp409LysfsTer4) | dbSNP gnomAD v2 |
| 2 | g.156579110T>A | CA348664736 | GPD2 | c.1905T>A (p.Phe635Leu) c.1527T>A (p.Phe509Leu) n.343T>A n.28T>A c.*19T>A (n.*19T>A) c.1803T>A (p.Phe601Leu) c.1224T>A (p.Phe408Leu) | |
| 2 | g.156579110T>C | CA429472685 | GPD2 | c.1905T>C (p.Phe635=) c.1527T>C (p.Phe509=) n.343T>C n.28T>C c.*19T>C (n.*19T>C) c.1803T>C (p.Phe601=) c.1224T>C (p.Phe408=) | |
| 2 | g.156579110T>G | CA348664738 | GPD2 | c.1905T>G (p.Phe635Leu) c.1527T>G (p.Phe509Leu) n.343T>G n.28T>G c.*19T>G (n.*19T>G) c.1803T>G (p.Phe601Leu) c.1224T>G (p.Phe408Leu) | |
| 2 | g.156579111G>A | CA58621725 | GPD2 | c.1906G>A (p.Asp636Asn) c.1528G>A (p.Asp510Asn) n.344G>A n.29G>A c.*20G>A (n.*20G>A) c.1804G>A (p.Asp602Asn) c.1225G>A (p.Asp409Asn) | dbSNP gnomAD v4 |
| 2 | g.156579111G>C | CA348664743 | GPD2 | c.1906G>C (p.Asp636His) c.1528G>C (p.Asp510His) n.344G>C n.29G>C c.*20G>C (n.*20G>C) c.1804G>C (p.Asp602His) c.1225G>C (p.Asp409His) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.156579111G= | CA1300570932 | GPD2 | c.1906G= (p.Asp636=) c.1528G= (p.Asp510=) n.344G= n.29G= c.*20G= (n.*20G=) c.1804G= (p.Asp602=) c.1225G= (p.Asp409=) | |
| 2 | g.156579111G>T | CA348664745 | GPD2 | c.1906G>T (p.Asp636Tyr) c.1528G>T (p.Asp510Tyr) n.344G>T n.29G>T c.*20G>T (n.*20G>T) c.1804G>T (p.Asp602Tyr) c.1225G>T (p.Asp409Tyr) | |
| 2 | g.156579112A= | CA1300570933 | GPD2 | c.1907A= (p.Asp636=) c.1529A= (p.Asp510=) n.345A= n.30A= c.*21A= (n.*21A=) c.1805A= (p.Asp602=) c.1226A= (p.Asp409=) | |
| 2 | g.156579112A>C | CA348664750 | GPD2 | c.1907A>C (p.Asp636Ala) c.1529A>C (p.Asp510Ala) n.345A>C n.30A>C c.*21A>C (n.*21A>C) c.1805A>C (p.Asp602Ala) c.1226A>C (p.Asp409Ala) | |
| 2 | g.156579112A>G | CA348664752 | GPD2 | c.1907A>G (p.Asp636Gly) c.1529A>G (p.Asp510Gly) n.345A>G n.30A>G c.*21A>G (n.*21A>G) c.1805A>G (p.Asp602Gly) c.1226A>G (p.Asp409Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.156579112A>T | CA348664747 | GPD2 | c.1907A>T (p.Asp636Val) c.1529A>T (p.Asp510Val) n.345A>T n.30A>T c.*21A>T (n.*21A>T) c.1805A>T (p.Asp602Val) c.1226A>T (p.Asp409Val) | gnomAD v4 |
| 2 | g.156579113T>A | CA348664754 | GPD2 | c.1908T>A (p.Asp636Glu) c.1530T>A (p.Asp510Glu) n.346T>A n.31T>A c.*22T>A (n.*22T>A) c.1806T>A (p.Asp602Glu) c.1227T>A (p.Asp409Glu) | |
| 2 | g.156579113T>C | CA429472689 | GPD2 | c.1908T>C (p.Asp636=) c.1530T>C (p.Asp510=) n.346T>C n.31T>C c.*22T>C (n.*22T>C) c.1806T>C (p.Asp602=) c.1227T>C (p.Asp409=) | |
| 2 | g.156579113T>G | CA348664756 | GPD2 | c.1908T>G (p.Asp636Glu) c.1530T>G (p.Asp510Glu) n.346T>G n.31T>G c.*22T>G (n.*22T>G) c.1806T>G (p.Asp602Glu) c.1227T>G (p.Asp409Glu) | |
| 2 | g.156579114G>A | CA348664758 | GPD2 | c.1909G>A (p.Ala637Thr) c.1531G>A (p.Ala511Thr) n.347G>A n.32G>A c.*23G>A (n.*23G>A) c.1807G>A (p.Ala603Thr) c.1228G>A (p.Ala410Thr) | gnomAD v4 |
| 2 | g.156579114G>C | CA348664760 | GPD2 | c.1909G>C (p.Ala637Pro) c.1531G>C (p.Ala511Pro) n.347G>C n.32G>C c.*23G>C (n.*23G>C) c.1807G>C (p.Ala603Pro) c.1228G>C (p.Ala410Pro) | |
| 2 | g.156579114G>T | CA348664762 | GPD2 | c.1909G>T (p.Ala637Ser) c.1531G>T (p.Ala511Ser) n.347G>T n.32G>T c.*23G>T (n.*23G>T) c.1807G>T (p.Ala603Ser) c.1228G>T (p.Ala410Ser) | |
| 2 | g.156579115C>A | CA348664764 | GPD2 | c.1910C>A (p.Ala637Glu) c.1532C>A (p.Ala511Glu) n.348C>A n.33C>A c.*24C>A (n.*24C>A) c.1808C>A (p.Ala603Glu) c.1229C>A (p.Ala410Glu) | |
| 2 | g.156579115C>G | CA348664766 | GPD2 | c.1910C>G (p.Ala637Gly) c.1532C>G (p.Ala511Gly) n.348C>G n.33C>G c.*24C>G (n.*24C>G) c.1808C>G (p.Ala603Gly) c.1229C>G (p.Ala410Gly) | |
| 2 | g.156579115C>T | CA348664769 | GPD2 | c.1910C>T (p.Ala637Val) c.1532C>T (p.Ala511Val) n.348C>T n.33C>T c.*24C>T (n.*24C>T) c.1808C>T (p.Ala603Val) c.1229C>T (p.Ala410Val) | gnomAD v4 |
| 2 | g.156579116A>C | CA429472692 | GPD2 | c.1911A>C (p.Ala637=) c.1533A>C (p.Ala511=) n.349A>C n.34A>C c.*25A>C (n.*25A>C) c.1809A>C (p.Ala603=) c.1230A>C (p.Ala410=) | gnomAD v4 |
| 2 | g.156579116A>G | CA429472694 | GPD2 | c.1911A>G (p.Ala637=) c.1533A>G (p.Ala511=) n.349A>G n.34A>G c.*25A>G (n.*25A>G) c.1809A>G (p.Ala603=) c.1230A>G (p.Ala410=) | |
| 2 | g.156579116A>T | CA429472695 | GPD2 | c.1911A>T (p.Ala637=) c.1533A>T (p.Ala511=) n.349A>T n.34A>T c.*25A>T (n.*25A>T) c.1809A>T (p.Ala603=) c.1230A>T (p.Ala410=) | |
| 2 | g.156579117G>A | CA348664773 | GPD2 | c.1912G>A (p.Asp638Asn) c.1534G>A (p.Asp512Asn) n.350G>A n.35G>A c.*26G>A (n.*26G>A) c.1810G>A (p.Asp604Asn) c.1231G>A (p.Asp411Asn) | |
| 2 | g.156579117G>C | CA348664775 | GPD2 | c.1912G>C (p.Asp638His) c.1534G>C (p.Asp512His) n.350G>C n.35G>C c.*26G>C (n.*26G>C) c.1810G>C (p.Asp604His) c.1231G>C (p.Asp411His) | |
| 2 | g.156579117G>T | CA348664777 | GPD2 | c.1912G>T (p.Asp638Tyr) c.1534G>T (p.Asp512Tyr) n.350G>T n.35G>T c.*26G>T (n.*26G>T) c.1810G>T (p.Asp604Tyr) c.1231G>T (p.Asp411Tyr) | gnomAD v4 |
| 2 | g.156579118A= | CA1300570934 | GPD2 | c.1913A= (p.Asp638=) c.1535A= (p.Asp512=) n.351A= n.36A= c.*27A= (n.*27A=) c.1811A= (p.Asp604=) c.1232A= (p.Asp411=) | |
| 2 | g.156579118A>C | CA348664786 | GPD2 | c.1913A>C (p.Asp638Ala) c.1535A>C (p.Asp512Ala) n.351A>C n.36A>C c.*27A>C (n.*27A>C) c.1811A>C (p.Asp604Ala) c.1232A>C (p.Asp411Ala) | |
| 2 | g.156579118A>G | CA1917146 | GPD2 | c.1913A>G (p.Asp638Gly) c.1535A>G (p.Asp512Gly) n.351A>G n.36A>G c.*27A>G (n.*27A>G) c.1811A>G (p.Asp604Gly) c.1232A>G (p.Asp411Gly) | dbSNP ExAC gnomAD v4 |
| 2 | g.156579118A>T | CA348664781 | GPD2 | c.1913A>T (p.Asp638Val) c.1535A>T (p.Asp512Val) n.351A>T n.36A>T c.*27A>T (n.*27A>T) c.1811A>T (p.Asp604Val) c.1232A>T (p.Asp411Val) | |
| 2 | g.156579119C>A | CA348664789 | GPD2 | c.1914C>A (p.Asp638Glu) c.1536C>A (p.Asp512Glu) n.352C>A n.37C>A c.*28C>A (n.*28C>A) c.1812C>A (p.Asp604Glu) c.1233C>A (p.Asp411Glu) | dbSNP gnomAD v4 |
| 2 | g.156579119C= | CA1300570935 | GPD2 | c.1914C= (p.Asp638=) c.1536C= (p.Asp512=) n.352C= n.37C= c.*28C= (n.*28C=) c.1812C= (p.Asp604=) c.1233C= (p.Asp411=) | |
| 2 | g.156579119C>G | CA348664795 | GPD2 | c.1914C>G (p.Asp638Glu) c.1536C>G (p.Asp512Glu) n.352C>G n.37C>G c.*28C>G (n.*28C>G) c.1812C>G (p.Asp604Glu) c.1233C>G (p.Asp411Glu) | |
| 2 | g.156579119C>T | CA429472699 | GPD2 | c.1914C>T (p.Asp638=) c.1536C>T (p.Asp512=) n.352C>T n.37C>T c.*28C>T (n.*28C>T) c.1812C>T (p.Asp604=) c.1233C>T (p.Asp411=) | |
| 2 | g.156579120C>A | CA348664798 | GPD2 | c.1915C>A (p.Gln639Lys) c.1537C>A (p.Gln513Lys) n.353C>A n.38C>A c.*29C>A (n.*29C>A) c.1813C>A (p.Gln605Lys) c.1234C>A (p.Gln412Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.156579120C= | CA1300570936 | GPD2 | c.1915C= (p.Gln639=) c.1537C= (p.Gln513=) n.353C= n.38C= c.*29C= (n.*29C=) c.1813C= (p.Gln605=) c.1234C= (p.Gln412=) | |
| 2 | g.156579120C>G | CA348664803 | GPD2 | c.1915C>G (p.Gln639Glu) c.1537C>G (p.Gln513Glu) n.353C>G n.38C>G c.*29C>G (n.*29C>G) c.1813C>G (p.Gln605Glu) c.1234C>G (p.Gln412Glu) | |
| 2 | g.156579120C>T | CA348664804 | GPD2 | c.1915C>T (p.Gln639Ter) c.1537C>T (p.Gln513Ter) n.353C>T n.38C>T c.*29C>T (n.*29C>T) c.1813C>T (p.Gln605Ter) c.1234C>T (p.Gln412Ter) | |
| 2 | g.156579121A>C | CA348664806 | GPD2 | c.1916A>C (p.Gln639Pro) c.1538A>C (p.Gln513Pro) n.354A>C n.39A>C c.*30A>C (n.*30A>C) c.1814A>C (p.Gln605Pro) c.1235A>C (p.Gln412Pro) | |
| 2 | g.156579121A>G | CA348664809 | GPD2 | c.1916A>G (p.Gln639Arg) c.1538A>G (p.Gln513Arg) n.354A>G n.39A>G c.*30A>G (n.*30A>G) c.1814A>G (p.Gln605Arg) c.1235A>G (p.Gln412Arg) | |
| 2 | g.156579121A>T | CA348664810 | GPD2 | c.1916A>T (p.Gln639Leu) c.1538A>T (p.Gln513Leu) n.354A>T n.39A>T c.*30A>T (n.*30A>T) c.1814A>T (p.Gln605Leu) c.1235A>T (p.Gln412Leu) | |
| 2 | g.156579122G>A | CA429472702 | GPD2 | c.1917G>A (p.Gln639=) c.1539G>A (p.Gln513=) n.355G>A n.40G>A c.*31G>A (n.*31G>A) c.1815G>A (p.Gln605=) c.1236G>A (p.Gln412=) | |
| 2 | g.156579122G>C | CA348664811 | GPD2 | c.1917G>C (p.Gln639His) c.1539G>C (p.Gln513His) n.355G>C n.40G>C c.*31G>C (n.*31G>C) c.1815G>C (p.Gln605His) c.1236G>C (p.Gln412His) | |
| 2 | g.156579122G>T | CA348664812 | GPD2 | c.1917G>T (p.Gln639His) c.1539G>T (p.Gln513His) n.355G>T n.40G>T c.*31G>T (n.*31G>T) c.1815G>T (p.Gln605His) c.1236G>T (p.Gln412His) | |
| 2 | g.156579122_156579123delinsGA | CA1300570937 | GPD2 | c.1917_1918delinsGA (p.Gln639=) c.1539_1540delinsGA (p.Gln513=) n.355_356delinsGA n.40_41delinsGA c.*31_*32delinsGA (n.*31_*32delinsGA) c.1815_1816delinsGA (p.Gln605=) c.1236_1237delinsGA (p.Gln412=) |