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 |
|---|---|---|---|---|---|
| 19 | g.12649134A= | CA2323499547 | MAN2B1 | c.2436+2T= (n.2436+2T=) c.2433+2T= (n.2433+2T=) n.3026+2T= c.2439+2T= (n.2439+2T=) c.1335+2T= (n.1335+2T=) | |
| 19 | g.12649134A>C | CA404240816 | MAN2B1 | c.2436+2T>G (n.2436+2T>G) c.2433+2T>G (n.2433+2T>G) n.3026+2T>G c.2439+2T>G (n.2439+2T>G) c.1335+2T>G (n.1335+2T>G) | |
| 19 | g.12649134A>G | CA221084 | MAN2B1 | c.2436+2T>C (n.2436+2T>C) c.2433+2T>C (n.2433+2T>C) n.3026+2T>C c.2439+2T>C (n.2439+2T>C) c.1335+2T>C (n.1335+2T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.12649134A>T | CA404240817 | MAN2B1 | c.2436+2T>A (n.2436+2T>A) c.2433+2T>A (n.2433+2T>A) n.3026+2T>A c.2439+2T>A (n.2439+2T>A) c.1335+2T>A (n.1335+2T>A) | |
| 19 | g.12649135C>A | CA404240820 | MAN2B1 | c.2436+1G>T (n.2436+1G>T) c.2433+1G>T (n.2433+1G>T) n.3026+1G>T c.2439+1G>T (n.2439+1G>T) c.1335+1G>T (n.1335+1G>T) | |
| 19 | g.12649135C= | CA2323499548 | MAN2B1 | c.2436+1G= (n.2436+1G=) c.2433+1G= (n.2433+1G=) n.3026+1G= c.2439+1G= (n.2439+1G=) c.1335+1G= (n.1335+1G=) | |
| 19 | g.12649135C>G | CA404240822 | MAN2B1 | c.2436+1G>C (n.2436+1G>C) c.2433+1G>C (n.2433+1G>C) n.3026+1G>C c.2439+1G>C (n.2439+1G>C) c.1335+1G>C (n.1335+1G>C) | gnomAD v4 |
| 19 | g.12649135C>T | CA305461804 | MAN2B1 | c.2436+1G>A (n.2436+1G>A) c.2433+1G>A (n.2433+1G>A) n.3026+1G>A c.2439+1G>A (n.2439+1G>A) c.1335+1G>A (n.1335+1G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.12649136del | CA2582717944 | MAN2B1 | c.2436+1del c.2433+1del n.3026+1del c.2439+1del c.1335+1del | gnomAD v4 |
| 19 | g.12649136C>A | CA404240825 | MAN2B1 | c.2436G>T (p.Met812Ile) c.2433G>T (p.Met811Ile) n.3026G>T c.2439G>T (p.Met813Ile) c.1335G>T (p.Met445Ile) | |
| 19 | g.12649136C>G | CA404240832 | MAN2B1 | c.2436G>C (p.Met812Ile) c.2433G>C (p.Met811Ile) n.3026G>C c.2439G>C (p.Met813Ile) c.1335G>C (p.Met445Ile) | |
| 19 | g.12649136C>T | CA404240835 | MAN2B1 | c.2436G>A (p.Met812Ile) c.2433G>A (p.Met811Ile) n.3026G>A c.2439G>A (p.Met813Ile) c.1335G>A (p.Met445Ile) | |
| 19 | g.12649137A= | CA2323499549 | MAN2B1 | c.2435T= (p.Met812=) c.2432T= (p.Met811=) n.3025T= c.2438T= (p.Met813=) c.1334T= (p.Met445=) | |
| 19 | g.12649137A>C | CA404240848 | MAN2B1 | c.2435T>G (p.Met812Arg) c.2432T>G (p.Met811Arg) n.3025T>G c.2438T>G (p.Met813Arg) c.1334T>G (p.Met445Arg) | |
| 19 | g.12649137A>G | CA9226038 | MAN2B1 | c.2435T>C (p.Met812Thr) c.2432T>C (p.Met811Thr) n.3025T>C c.2438T>C (p.Met813Thr) c.1334T>C (p.Met445Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.12649137A>T | CA404240843 | MAN2B1 | c.2435T>A (p.Met812Lys) c.2432T>A (p.Met811Lys) n.3025T>A c.2438T>A (p.Met813Lys) c.1334T>A (p.Met445Lys) | |
| 19 | g.12649138T>A | CA404240853 | MAN2B1 | c.2434A>T (p.Met812Leu) c.2431A>T (p.Met811Leu) n.3024A>T c.2437A>T (p.Met813Leu) c.1333A>T (p.Met445Leu) | |
| 19 | g.12649138T>C | CA404240856 | MAN2B1 | c.2434A>G (p.Met812Val) c.2431A>G (p.Met811Val) n.3024A>G c.2437A>G (p.Met813Val) c.1333A>G (p.Met445Val) | |
| 19 | g.12649138T>G | CA404240857 | MAN2B1 | c.2434A>C (p.Met812Leu) c.2431A>C (p.Met811Leu) n.3024A>C c.2437A>C (p.Met813Leu) c.1333A>C (p.Met445Leu) | gnomAD v4 |
| 19 | g.12649139G>A | CA505624417 | MAN2B1 | c.2433C>T (p.Leu811=) c.2430C>T (p.Leu810=) n.3023C>T c.2436C>T (p.Leu812=) c.1332C>T (p.Leu444=) | |
| 19 | g.12649139G>C | CA505624418 | MAN2B1 | c.2433C>G (p.Leu811=) c.2430C>G (p.Leu810=) n.3023C>G c.2436C>G (p.Leu812=) c.1332C>G (p.Leu444=) | gnomAD v4 |
| 19 | g.12649139G>T | CA505624419 | MAN2B1 | c.2433C>A (p.Leu811=) c.2430C>A (p.Leu810=) n.3023C>A c.2436C>A (p.Leu812=) c.1332C>A (p.Leu444=) | |
| 19 | g.12649140A>C | CA404240859 | MAN2B1 | c.2432T>G (p.Leu811Arg) c.2429T>G (p.Leu810Arg) n.3022T>G c.2435T>G (p.Leu812Arg) c.1331T>G (p.Leu444Arg) | |
| 19 | g.12649140A>G | CA404240861 | MAN2B1 | c.2432T>C (p.Leu811Pro) c.2429T>C (p.Leu810Pro) n.3022T>C c.2435T>C (p.Leu812Pro) c.1331T>C (p.Leu444Pro) | |
| 19 | g.12649140A>T | CA404240864 | MAN2B1 | c.2432T>A (p.Leu811His) c.2429T>A (p.Leu810His) n.3022T>A c.2435T>A (p.Leu812His) c.1331T>A (p.Leu444His) | |
| 19 | g.12649141G>A | CA9226039 | MAN2B1 | c.2431C>T (p.Leu811Phe) c.2428C>T (p.Leu810Phe) n.3021C>T c.2434C>T (p.Leu812Phe) c.1330C>T (p.Leu444Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.12649141G>C | CA404240867 | MAN2B1 | c.2431C>G (p.Leu811Val) c.2428C>G (p.Leu810Val) n.3021C>G c.2434C>G (p.Leu812Val) c.1330C>G (p.Leu444Val) | |
| 19 | g.12649141G= | CA2323499550 | MAN2B1 | c.2431C= (p.Leu811=) c.2428C= (p.Leu810=) n.3021C= c.2434C= (p.Leu812=) c.1330C= (p.Leu444=) | |
| 19 | g.12649141G>T | CA404240870 | MAN2B1 | c.2431C>A (p.Leu811Ile) c.2428C>A (p.Leu810Ile) n.3021C>A c.2434C>A (p.Leu812Ile) c.1330C>A (p.Leu444Ile) | |
| 19 | g.12649142C>A | CA404240875 | MAN2B1 | c.2430G>T (p.Glu810Asp) c.2427G>T (p.Glu809Asp) n.3020G>T c.2433G>T (p.Glu811Asp) c.1329G>T (p.Glu443Asp) | |
| 19 | g.12649142C>G | CA404240880 | MAN2B1 | c.2430G>C (p.Glu810Asp) c.2427G>C (p.Glu809Asp) n.3020G>C c.2433G>C (p.Glu811Asp) c.1329G>C (p.Glu443Asp) | |
| 19 | g.12649142C>T | CA505624420 | MAN2B1 | c.2430G>A (p.Glu810=) c.2427G>A (p.Glu809=) n.3020G>A c.2433G>A (p.Glu811=) c.1329G>A (p.Glu443=) | |
| 19 | g.12649143T>A | CA404240881 | MAN2B1 | c.2429A>T (p.Glu810Val) c.2426A>T (p.Glu809Val) n.3019A>T c.2432A>T (p.Glu811Val) c.1328A>T (p.Glu443Val) | |
| 19 | g.12649143T>C | CA404240884 | MAN2B1 | c.2429A>G (p.Glu810Gly) c.2426A>G (p.Glu809Gly) n.3019A>G c.2432A>G (p.Glu811Gly) c.1328A>G (p.Glu443Gly) | |
| 19 | g.12649143T>G | CA404240891 | MAN2B1 | c.2429A>C (p.Glu810Ala) c.2426A>C (p.Glu809Ala) n.3019A>C c.2432A>C (p.Glu811Ala) c.1328A>C (p.Glu443Ala) | |
| 19 | g.12649144C>A | CA404240893 | MAN2B1 | c.2428G>T (p.Glu810Ter) c.2425G>T (p.Glu809Ter) n.3018G>T c.2431G>T (p.Glu811Ter) c.1327G>T (p.Glu443Ter) | |
| 19 | g.12649144C= | CA2323499551 | MAN2B1 | c.2428G= (p.Glu810=) c.2425G= (p.Glu809=) n.3018G= c.2431G= (p.Glu811=) c.1327G= (p.Glu443=) | |
| 19 | g.12649144C>G | CA404240895 | MAN2B1 | c.2428G>C (p.Glu810Gln) c.2425G>C (p.Glu809Gln) n.3018G>C c.2431G>C (p.Glu811Gln) c.1327G>C (p.Glu443Gln) | dbSNP |
| 19 | g.12649144C>T | CA404240894 | MAN2B1 | c.2428G>A (p.Glu810Lys) c.2425G>A (p.Glu809Lys) n.3018G>A c.2431G>A (p.Glu811Lys) c.1327G>A (p.Glu443Lys) | |
| 19 | g.12649145C>A | CA505624422 | MAN2B1 | c.2427G>T (p.Leu809=) c.2424G>T (p.Leu808=) n.3017G>T c.2430G>T (p.Leu810=) c.1326G>T (p.Leu442=) | |
| 19 | g.12649145C>G | CA505624423 | MAN2B1 | c.2427G>C (p.Leu809=) c.2424G>C (p.Leu808=) n.3017G>C c.2430G>C (p.Leu810=) c.1326G>C (p.Leu442=) | |
| 19 | g.12649145C>T | CA505624421 | MAN2B1 | c.2427G>A (p.Leu809=) c.2424G>A (p.Leu808=) n.3017G>A c.2430G>A (p.Leu810=) c.1326G>A (p.Leu442=) | |
| 19 | g.12649146A= | CA2323499552 | MAN2B1 | c.2426T= (p.Leu809=) c.2423T= (p.Leu808=) n.3016T= c.2429T= (p.Leu810=) c.1325T= (p.Leu442=) | |
| 19 | g.12649146A>C | CA404240897 | MAN2B1 | c.2426T>G (p.Leu809Arg) c.2423T>G (p.Leu808Arg) n.3016T>G c.2429T>G (p.Leu810Arg) c.1325T>G (p.Leu442Arg) | |
| 19 | g.12649146A>G | CA341737 | MAN2B1 | c.2426T>C (p.Leu809Pro) c.2423T>C (p.Leu808Pro) n.3016T>C c.2429T>C (p.Leu810Pro) c.1325T>C (p.Leu442Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.12649146A>T | CA404240901 | MAN2B1 | c.2426T>A (p.Leu809Gln) c.2423T>A (p.Leu808Gln) n.3016T>A c.2429T>A (p.Leu810Gln) c.1325T>A (p.Leu442Gln) | |
| 19 | g.12649147G>A | CA505624424 | MAN2B1 | c.2425C>T (p.Leu809=) c.2422C>T (p.Leu808=) n.3015C>T c.2428C>T (p.Leu810=) c.1324C>T (p.Leu442=) | |
| 19 | g.12649147G>C | CA404240906 | MAN2B1 | c.2425C>G (p.Leu809Val) c.2422C>G (p.Leu808Val) n.3015C>G c.2428C>G (p.Leu810Val) c.1324C>G (p.Leu442Val) | |
| 19 | g.12649147G>T | CA404240908 | MAN2B1 | c.2425C>A (p.Leu809Met) c.2422C>A (p.Leu808Met) n.3015C>A c.2428C>A (p.Leu810Met) c.1324C>A (p.Leu442Met) | |
| 19 | g.12649148C>A | CA505624425 | MAN2B1 | c.2424G>T (p.Ser808=) c.2421G>T (p.Ser807=) n.3014G>T c.2427G>T (p.Ser809=) c.1323G>T (p.Ser441=) | gnomAD v4 |