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 |
|---|---|---|---|---|---|
| 3 | g.170998199G>A | CA2702430 | SLC2A2 | c.1368C>T (p.Tyr456=) c.*835C>T (n.*835C>T) c.1011C>T (p.Tyr337=) c.849C>T (p.Tyr283=) c.1323C>T (p.Tyr441=) c.1149C>T (p.Tyr383=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.170998199G>C | CA355485651 | SLC2A2 | c.1368C>G (p.Tyr456Ter) c.*835C>G (n.*835C>G) c.1011C>G (p.Tyr337Ter) c.849C>G (p.Tyr283Ter) c.1323C>G (p.Tyr441Ter) c.1149C>G (p.Tyr383Ter) | |
| 3 | g.170998199G= | CA1420161854 | SLC2A2 | c.1368C= (p.Tyr456=) c.*835C= (n.*835C=) c.1011C= (p.Tyr337=) c.849C= (p.Tyr283=) c.1323C= (p.Tyr441=) c.1149C= (p.Tyr383=) | |
| 3 | g.170998199G>T | CA355485652 | SLC2A2 | c.1368C>A (p.Tyr456Ter) c.*835C>A (n.*835C>A) c.1011C>A (p.Tyr337Ter) c.849C>A (p.Tyr283Ter) c.1323C>A (p.Tyr441Ter) c.1149C>A (p.Tyr383Ter) | |
| 3 | g.170998200T>A | CA355485653 | SLC2A2 | c.1367A>T (p.Tyr456Phe) c.*834A>T (n.*834A>T) c.1010A>T (p.Tyr337Phe) c.848A>T (p.Tyr283Phe) c.1322A>T (p.Tyr441Phe) c.1148A>T (p.Tyr383Phe) | |
| 3 | g.170998200T>C | CA355485654 | SLC2A2 | c.1367A>G (p.Tyr456Cys) c.*834A>G (n.*834A>G) c.1010A>G (p.Tyr337Cys) c.848A>G (p.Tyr283Cys) c.1322A>G (p.Tyr441Cys) c.1148A>G (p.Tyr383Cys) | |
| 3 | g.170998200T>G | CA355485655 | SLC2A2 | c.1367A>C (p.Tyr456Ser) c.*834A>C (n.*834A>C) c.1010A>C (p.Tyr337Ser) c.848A>C (p.Tyr283Ser) c.1322A>C (p.Tyr441Ser) c.1148A>C (p.Tyr383Ser) | |
| 3 | g.170998201A= | CA1420161855 | SLC2A2 | c.1366T= (p.Tyr456=) c.*833T= (n.*833T=) c.1009T= (p.Tyr337=) c.847T= (p.Tyr283=) c.1321T= (p.Tyr441=) c.1147T= (p.Tyr383=) | |
| 3 | g.170998201A>C | CA355485656 | SLC2A2 | c.1366T>G (p.Tyr456Asp) c.*833T>G (n.*833T>G) c.1009T>G (p.Tyr337Asp) c.847T>G (p.Tyr283Asp) c.1321T>G (p.Tyr441Asp) c.1147T>G (p.Tyr383Asp) | gnomAD v4 |
| 3 | g.170998201A>G | CA2702431 | SLC2A2 | c.1366T>C (p.Tyr456His) c.*833T>C (n.*833T>C) c.1009T>C (p.Tyr337His) c.847T>C (p.Tyr283His) c.1321T>C (p.Tyr441His) c.1147T>C (p.Tyr383His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.170998201A>T | CA355485657 | SLC2A2 | c.1366T>A (p.Tyr456Asn) c.*833T>A (n.*833T>A) c.1009T>A (p.Tyr337Asn) c.847T>A (p.Tyr283Asn) c.1321T>A (p.Tyr441Asn) c.1147T>A (p.Tyr383Asn) | |
| 3 | g.170998202C>A | CA355485658 | SLC2A2 | c.1365G>T (p.Gln455His) c.*832G>T (n.*832G>T) c.1008G>T (p.Gln336His) c.846G>T (p.Gln282His) c.1320G>T (p.Gln440His) c.1146G>T (p.Gln382His) | |
| 3 | g.170998202C>G | CA355485659 | SLC2A2 | c.1365G>C (p.Gln455His) c.*832G>C (n.*832G>C) c.1008G>C (p.Gln336His) c.846G>C (p.Gln282His) c.1320G>C (p.Gln440His) c.1146G>C (p.Gln382His) | |
| 3 | g.170998202C>T | CA436772547 | SLC2A2 | c.1365G>A (p.Gln455=) c.*832G>A (n.*832G>A) c.1008G>A (p.Gln336=) c.846G>A (p.Gln282=) c.1320G>A (p.Gln440=) c.1146G>A (p.Gln382=) | |
| 3 | g.170998203T>A | CA355485662 | SLC2A2 | c.1364A>T (p.Gln455Leu) c.*831A>T (n.*831A>T) c.1007A>T (p.Gln336Leu) c.845A>T (p.Gln282Leu) c.1319A>T (p.Gln440Leu) c.1145A>T (p.Gln382Leu) | |
| 3 | g.170998203T>C | CA355485660 | SLC2A2 | c.1364A>G (p.Gln455Arg) c.*831A>G (n.*831A>G) c.1007A>G (p.Gln336Arg) c.845A>G (p.Gln282Arg) c.1319A>G (p.Gln440Arg) c.1145A>G (p.Gln382Arg) | gnomAD v4 |
| 3 | g.170998203T>G | CA355485661 | SLC2A2 | c.1364A>C (p.Gln455Pro) c.*831A>C (n.*831A>C) c.1007A>C (p.Gln336Pro) c.845A>C (p.Gln282Pro) c.1319A>C (p.Gln440Pro) c.1145A>C (p.Gln382Pro) | |
| 3 | g.170998204G>A | CA355485663 | SLC2A2 | c.1363C>T (p.Gln455Ter) c.*830C>T (n.*830C>T) c.1006C>T (p.Gln336Ter) c.844C>T (p.Gln282Ter) c.1318C>T (p.Gln440Ter) c.1144C>T (p.Gln382Ter) | |
| 3 | g.170998204G>C | CA355485664 | SLC2A2 | c.1363C>G (p.Gln455Glu) c.*830C>G (n.*830C>G) c.1006C>G (p.Gln336Glu) c.844C>G (p.Gln282Glu) c.1318C>G (p.Gln440Glu) c.1144C>G (p.Gln382Glu) | gnomAD v4 |
| 3 | g.170998204G>T | CA355485665 | SLC2A2 | c.1363C>A (p.Gln455Lys) c.*830C>A (n.*830C>A) c.1006C>A (p.Gln336Lys) c.844C>A (p.Gln282Lys) c.1318C>A (p.Gln440Lys) c.1144C>A (p.Gln382Lys) | |
| 3 | g.170998205G>A | CA87704973 | SLC2A2 | c.1362C>T (p.Phe454=) c.*829C>T (n.*829C>T) c.1005C>T (p.Phe335=) c.843C>T (p.Phe281=) c.1317C>T (p.Phe439=) c.1143C>T (p.Phe381=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.170998205G>C | CA355485666 | SLC2A2 | c.1362C>G (p.Phe454Leu) c.*829C>G (n.*829C>G) c.1005C>G (p.Phe335Leu) c.843C>G (p.Phe281Leu) c.1317C>G (p.Phe439Leu) c.1143C>G (p.Phe381Leu) | |
| 3 | g.170998205G= | CA1420161856 | SLC2A2 | c.1362C= (p.Phe454=) c.*829C= (n.*829C=) c.1005C= (p.Phe335=) c.843C= (p.Phe281=) c.1317C= (p.Phe439=) c.1143C= (p.Phe381=) | |
| 3 | g.170998205G>T | CA355485667 | SLC2A2 | c.1362C>A (p.Phe454Leu) c.*829C>A (n.*829C>A) c.1005C>A (p.Phe335Leu) c.843C>A (p.Phe281Leu) c.1317C>A (p.Phe439Leu) c.1143C>A (p.Phe381Leu) | |
| 3 | g.170998206A>C | CA355485668 | SLC2A2 | c.1361T>G (p.Phe454Cys) c.*828T>G (n.*828T>G) c.1004T>G (p.Phe335Cys) c.842T>G (p.Phe281Cys) c.1316T>G (p.Phe439Cys) c.1142T>G (p.Phe381Cys) | |
| 3 | g.170998206A>G | CA355485669 | SLC2A2 | c.1361T>C (p.Phe454Ser) c.*828T>C (n.*828T>C) c.1004T>C (p.Phe335Ser) c.842T>C (p.Phe281Ser) c.1316T>C (p.Phe439Ser) c.1142T>C (p.Phe381Ser) | gnomAD v4 |
| 3 | g.170998206A>T | CA355485670 | SLC2A2 | c.1361T>A (p.Phe454Tyr) c.*828T>A (n.*828T>A) c.1004T>A (p.Phe335Tyr) c.842T>A (p.Phe281Tyr) c.1316T>A (p.Phe439Tyr) c.1142T>A (p.Phe381Tyr) | |
| 3 | g.170998207A>C | CA355485671 | SLC2A2 | c.1360T>G (p.Phe454Val) c.*827T>G (n.*827T>G) c.1003T>G (p.Phe335Val) c.841T>G (p.Phe281Val) c.1315T>G (p.Phe439Val) c.1141T>G (p.Phe381Val) | |
| 3 | g.170998207A>G | CA355485672 | SLC2A2 | c.1360T>C (p.Phe454Leu) c.*827T>C (n.*827T>C) c.1003T>C (p.Phe335Leu) c.841T>C (p.Phe281Leu) c.1315T>C (p.Phe439Leu) c.1141T>C (p.Phe381Leu) | |
| 3 | g.170998207A>T | CA355485673 | SLC2A2 | c.1360T>A (p.Phe454Ile) c.*827T>A (n.*827T>A) c.1003T>A (p.Phe335Ile) c.841T>A (p.Phe281Ile) c.1315T>A (p.Phe439Ile) c.1141T>A (p.Phe381Ile) | |
| 3 | g.170998207_170998209delinsAAC | CA1420161857 | SLC2A2 | c.1358_1360delinsGTT (p.Cys453=) c.*825_*827delinsGTT (n.*825_*827delinsGTT) c.1001_1003delinsGTT (p.Cys334=) c.839_841delinsGTT (p.Cys280=) c.1313_1315delinsGTT (p.Cys438=) c.1139_1141delinsGTT (p.Cys380=) | |
| 3 | g.170998208A= | CA1420161858 | SLC2A2 | c.1359T= (p.Cys453=) c.*826T= (n.*826T=) c.1002T= (p.Cys334=) c.840T= (p.Cys280=) c.1314T= (p.Cys438=) c.1140T= (p.Cys380=) | |
| 3 | g.170998208A>C | CA355485674 | SLC2A2 | c.1359T>G (p.Cys453Trp) c.*826T>G (n.*826T>G) c.1002T>G (p.Cys334Trp) c.840T>G (p.Cys280Trp) c.1314T>G (p.Cys438Trp) c.1140T>G (p.Cys380Trp) | |
| 3 | g.170998208A>G | CA436772572 | SLC2A2 | c.1359T>C (p.Cys453=) c.*826T>C (n.*826T>C) c.1002T>C (p.Cys334=) c.840T>C (p.Cys280=) c.1314T>C (p.Cys438=) c.1140T>C (p.Cys380=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.170998208A>T | CA355485675 | SLC2A2 | c.1359T>A (p.Cys453Ter) c.*826T>A (n.*826T>A) c.1002T>A (p.Cys334Ter) c.840T>A (p.Cys280Ter) c.1314T>A (p.Cys438Ter) c.1140T>A (p.Cys380Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.170998211_170998212del | CA658796390 | SLC2A2 | c.1358_1359del (p.Cys453PhefsTer30) c.*825_*826del (n.*825_*826del) c.1001_1002del (p.Cys334PhefsTer30) c.839_840del (p.Cys280PhefsTer30) c.1313_1314del (p.Cys438PhefsTer30) c.1139_1140del (p.Cys380PhefsTer30) | ClinVar dbSNP |
| 3 | g.170998209C>A | CA355485676 | SLC2A2 | c.1358G>T (p.Cys453Phe) c.*825G>T (n.*825G>T) c.1001G>T (p.Cys334Phe) c.839G>T (p.Cys280Phe) c.1313G>T (p.Cys438Phe) c.1139G>T (p.Cys380Phe) | |
| 3 | g.170998209C>G | CA355485677 | SLC2A2 | c.1358G>C (p.Cys453Ser) c.*825G>C (n.*825G>C) c.1001G>C (p.Cys334Ser) c.839G>C (p.Cys280Ser) c.1313G>C (p.Cys438Ser) c.1139G>C (p.Cys380Ser) | |
| 3 | g.170998209C>T | CA355485678 | SLC2A2 | c.1358G>A (p.Cys453Tyr) c.*825G>A (n.*825G>A) c.1001G>A (p.Cys334Tyr) c.839G>A (p.Cys280Tyr) c.1313G>A (p.Cys438Tyr) c.1139G>A (p.Cys380Tyr) | |
| 3 | g.170998210A= | CA1420161859 | SLC2A2 | c.1357T= (p.Cys453=) c.*824T= (n.*824T=) c.1000T= (p.Cys334=) c.838T= (p.Cys280=) c.1312T= (p.Cys438=) c.1138T= (p.Cys380=) | |
| 3 | g.170998210A>C | CA355485679 | SLC2A2 | c.1357T>G (p.Cys453Gly) c.*824T>G (n.*824T>G) c.1000T>G (p.Cys334Gly) c.838T>G (p.Cys280Gly) c.1312T>G (p.Cys438Gly) c.1138T>G (p.Cys380Gly) | dbSNP gnomAD v4 |
| 3 | g.170998210A>G | CA355485680 | SLC2A2 | c.1357T>C (p.Cys453Arg) c.*824T>C (n.*824T>C) c.1000T>C (p.Cys334Arg) c.838T>C (p.Cys280Arg) c.1312T>C (p.Cys438Arg) c.1138T>C (p.Cys380Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.170998210A>T | CA355485681 | SLC2A2 | c.1357T>A (p.Cys453Ser) c.*824T>A (n.*824T>A) c.1000T>A (p.Cys334Ser) c.838T>A (p.Cys280Ser) c.1312T>A (p.Cys438Ser) c.1138T>A (p.Cys380Ser) | |
| 3 | g.170998211C>A | CA436772590 | SLC2A2 | c.1356G>T (p.Leu452=) c.*823G>T (n.*823G>T) c.999G>T (p.Leu333=) c.837G>T (p.Leu279=) c.1311G>T (p.Leu437=) c.1137G>T (p.Leu379=) | |
| 3 | g.170998211C>G | CA436772594 | SLC2A2 | c.1356G>C (p.Leu452=) c.*823G>C (n.*823G>C) c.999G>C (p.Leu333=) c.837G>C (p.Leu279=) c.1311G>C (p.Leu437=) c.1137G>C (p.Leu379=) | |
| 3 | g.170998211C>T | CA436772592 | SLC2A2 | c.1356G>A (p.Leu452=) c.*823G>A (n.*823G>A) c.999G>A (p.Leu333=) c.837G>A (p.Leu279=) c.1311G>A (p.Leu437=) c.1137G>A (p.Leu379=) | |
| 3 | g.170998211dup | CA548333450 | SLC2A2 | c.1356dup (p.Cys453ValfsTer?) c.*823dup (n.*823dup) c.999dup (p.Cys334ValfsTer?) c.837dup (p.Cys280ValfsTer?) c.1311dup (p.Cys438ValfsTer?) c.1137dup (p.Cys380ValfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.170998212A>C | CA355485684 | SLC2A2 | c.1355T>G (p.Leu452Arg) c.*822T>G (n.*822T>G) c.998T>G (p.Leu333Arg) c.836T>G (p.Leu279Arg) c.1310T>G (p.Leu437Arg) c.1136T>G (p.Leu379Arg) | |
| 3 | g.170998212A>G | CA355485682 | SLC2A2 | c.1355T>C (p.Leu452Pro) c.*822T>C (n.*822T>C) c.998T>C (p.Leu333Pro) c.836T>C (p.Leu279Pro) c.1310T>C (p.Leu437Pro) c.1136T>C (p.Leu379Pro) | gnomAD v4 |
| 3 | g.170998212A>T | CA355485683 | SLC2A2 | c.1355T>A (p.Leu452Gln) c.*822T>A (n.*822T>A) c.998T>A (p.Leu333Gln) c.836T>A (p.Leu279Gln) c.1310T>A (p.Leu437Gln) c.1136T>A (p.Leu379Gln) |