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.12649418G>A | CA251911 | MAN2B1 | c.2278C>T (p.Arg760Ter) c.2275C>T (p.Arg759Ter) n.2868C>T c.2281C>T (p.Arg761Ter) c.1177C>T (p.Arg393Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.12649418G>C | CA404241777 | MAN2B1 | c.2278C>G (p.Arg760Gly) c.2275C>G (p.Arg759Gly) n.2868C>G c.2281C>G (p.Arg761Gly) c.1177C>G (p.Arg393Gly) | ClinVar dbSNP |
| 19 | g.12649418G= | CA2323499682 | MAN2B1 | c.2278C= (p.Arg760=) c.2275C= (p.Arg759=) n.2868C= c.2281C= (p.Arg761=) c.1177C= (p.Arg393=) | |
| 19 | g.12649418G>T | CA505624521 | MAN2B1 | c.2278C>A (p.Arg760=) c.2275C>A (p.Arg759=) n.2868C>A c.2281C>A (p.Arg761=) c.1177C>A (p.Arg393=) | ClinVar |
| 19 | g.12649419A>C | CA404241778 | MAN2B1 | c.2277T>G (p.Tyr759Ter) c.2274T>G (p.Tyr758Ter) n.2867T>G c.2280T>G (p.Tyr760Ter) c.1176T>G (p.Tyr392Ter) | |
| 19 | g.12649419A>G | CA505624522 | MAN2B1 | c.2277T>C (p.Tyr759=) c.2274T>C (p.Tyr758=) n.2867T>C c.2280T>C (p.Tyr760=) c.1176T>C (p.Tyr392=) | gnomAD v4 |
| 19 | g.12649419A>T | CA404241779 | MAN2B1 | c.2277T>A (p.Tyr759Ter) c.2274T>A (p.Tyr758Ter) n.2867T>A c.2280T>A (p.Tyr760Ter) c.1176T>A (p.Tyr392Ter) | |
| 19 | g.12649420T>A | CA404241785 | MAN2B1 | c.2276A>T (p.Tyr759Phe) c.2273A>T (p.Tyr758Phe) n.2866A>T c.2279A>T (p.Tyr760Phe) c.1175A>T (p.Tyr392Phe) | gnomAD v4 |
| 19 | g.12649420T>C | CA404241781 | MAN2B1 | c.2276A>G (p.Tyr759Cys) c.2273A>G (p.Tyr758Cys) n.2866A>G c.2279A>G (p.Tyr760Cys) c.1175A>G (p.Tyr392Cys) | |
| 19 | g.12649420T>G | CA404241783 | MAN2B1 | c.2276A>C (p.Tyr759Ser) c.2273A>C (p.Tyr758Ser) n.2866A>C c.2279A>C (p.Tyr760Ser) c.1175A>C (p.Tyr392Ser) | |
| 19 | g.12649421A>C | CA404241786 | MAN2B1 | c.2275T>G (p.Tyr759Asp) c.2272T>G (p.Tyr758Asp) n.2865T>G c.2278T>G (p.Tyr760Asp) c.1174T>G (p.Tyr392Asp) | |
| 19 | g.12649421A>G | CA404241787 | MAN2B1 | c.2275T>C (p.Tyr759His) c.2272T>C (p.Tyr758His) n.2865T>C c.2278T>C (p.Tyr760His) c.1174T>C (p.Tyr392His) | |
| 19 | g.12649421A>T | CA404241789 | MAN2B1 | c.2275T>A (p.Tyr759Asn) c.2272T>A (p.Tyr758Asn) n.2865T>A c.2278T>A (p.Tyr760Asn) c.1174T>A (p.Tyr392Asn) | |
| 19 | g.12649422A>C | CA404241790 | MAN2B1 | c.2274T>G (p.Asp758Glu) c.2271T>G (p.Asp757Glu) n.2864T>G c.2277T>G (p.Asp759Glu) c.1173T>G (p.Asp391Glu) | |
| 19 | g.12649422A>G | CA505624523 | MAN2B1 | c.2274T>C (p.Asp758=) c.2271T>C (p.Asp757=) n.2864T>C c.2277T>C (p.Asp759=) c.1173T>C (p.Asp391=) | |
| 19 | g.12649422A>T | CA404241792 | MAN2B1 | c.2274T>A (p.Asp758Glu) c.2271T>A (p.Asp757Glu) n.2864T>A c.2277T>A (p.Asp759Glu) c.1173T>A (p.Asp391Glu) | |
| 19 | g.12649423T>A | CA404241794 | MAN2B1 | c.2273A>T (p.Asp758Val) c.2270A>T (p.Asp757Val) n.2863A>T c.2276A>T (p.Asp759Val) c.1172A>T (p.Asp391Val) | |
| 19 | g.12649423T>C | CA305462074 | MAN2B1 | c.2273A>G (p.Asp758Gly) c.2270A>G (p.Asp757Gly) n.2863A>G c.2276A>G (p.Asp759Gly) c.1172A>G (p.Asp391Gly) | dbSNP gnomAD v4 |
| 19 | g.12649423T>G | CA404241795 | MAN2B1 | c.2273A>C (p.Asp758Ala) c.2270A>C (p.Asp757Ala) n.2863A>C c.2276A>C (p.Asp759Ala) c.1172A>C (p.Asp391Ala) | |
| 19 | g.12649423T= | CA2323499683 | MAN2B1 | c.2273A= (p.Asp758=) c.2270A= (p.Asp757=) n.2863A= c.2276A= (p.Asp759=) c.1172A= (p.Asp391=) | |
| 19 | g.12649423_12649424delinsTC | CA2323499684 | MAN2B1 | c.2272_2273delinsGA (p.Asp758=) c.2269_2270delinsGA (p.Asp757=) n.2862_2863delinsGA c.2275_2276delinsGA (p.Asp759=) c.1171_1172delinsGA (p.Asp391=) | |
| 19 | g.12649424C>A | CA404241797 | MAN2B1 | c.2272G>T (p.Asp758Tyr) c.2269G>T (p.Asp757Tyr) n.2862G>T c.2275G>T (p.Asp759Tyr) c.1171G>T (p.Asp391Tyr) | |
| 19 | g.12649424C>G | CA404241798 | MAN2B1 | c.2272G>C (p.Asp758His) c.2269G>C (p.Asp757His) n.2862G>C c.2275G>C (p.Asp759His) c.1171G>C (p.Asp391His) | gnomAD v4 |
| 19 | g.12649424C>T | CA404241800 | MAN2B1 | c.2272G>A (p.Asp758Asn) c.2269G>A (p.Asp757Asn) n.2862G>A c.2275G>A (p.Asp759Asn) c.1171G>A (p.Asp391Asn) | gnomAD v4 |
| 19 | g.12649426del | CA916083684 | MAN2B1 | c.2272del (p.Asp758IlefsTer8) c.2269del (p.Asp757IlefsTer8) n.2862del c.2275del (p.Asp759IlefsTer8) c.1171del (p.Asp391IlefsTer8) | ClinVar dbSNP |
| 19 | g.12649425_12649426del | CA2576634898 | MAN2B1 | c.2271_2272del (p.Asp758LeufsTer?) c.2268_2269del (p.Asp757LeufsTer?) n.2861_2862del c.2274_2275del (p.Asp759LeufsTer?) c.1170_1171del (p.Asp391LeufsTer?) | |
| 19 | g.12649425C>A | CA505624524 | MAN2B1 | c.2271G>T (p.Arg757=) c.2268G>T (p.Arg756=) n.2861G>T c.2274G>T (p.Arg758=) c.1170G>T (p.Arg390=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.12649425C= | CA2323499685 | MAN2B1 | c.2271G= (p.Arg757=) c.2268G= (p.Arg756=) n.2861G= c.2274G= (p.Arg758=) c.1170G= (p.Arg390=) | |
| 19 | g.12649425C>G | CA9226092 | MAN2B1 | c.2271G>C (p.Arg757=) c.2268G>C (p.Arg756=) n.2861G>C c.2274G>C (p.Arg758=) c.1170G>C (p.Arg390=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.12649425C>T | CA505624525 | MAN2B1 | c.2271G>A (p.Arg757=) c.2268G>A (p.Arg756=) n.2861G>A c.2274G>A (p.Arg758=) c.1170G>A (p.Arg390=) | |
| 19 | g.12649426C>A | CA404241802 | MAN2B1 | c.2270G>T (p.Arg757Leu) c.2267G>T (p.Arg756Leu) n.2860G>T c.2273G>T (p.Arg758Leu) c.1169G>T (p.Arg390Leu) | |
| 19 | g.12649426C= | CA2323499686 | MAN2B1 | c.2270G= (p.Arg757=) c.2267G= (p.Arg756=) n.2860G= c.2273G= (p.Arg758=) c.1169G= (p.Arg390=) | |
| 19 | g.12649426C>G | CA404241804 | MAN2B1 | c.2270G>C (p.Arg757Pro) c.2267G>C (p.Arg756Pro) n.2860G>C c.2273G>C (p.Arg758Pro) c.1169G>C (p.Arg390Pro) | |
| 19 | g.12649426C>T | CA9226093 | MAN2B1 | c.2270G>A (p.Arg757Gln) c.2267G>A (p.Arg756Gln) n.2860G>A c.2273G>A (p.Arg758Gln) c.1169G>A (p.Arg390Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.12649427G>A | CA9226094 | MAN2B1 | c.2269C>T (p.Arg757Trp) c.2266C>T (p.Arg756Trp) n.2859C>T c.2272C>T (p.Arg758Trp) c.1168C>T (p.Arg390Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.12649427G>C | CA404241807 | MAN2B1 | c.2269C>G (p.Arg757Gly) c.2266C>G (p.Arg756Gly) n.2859C>G c.2272C>G (p.Arg758Gly) c.1168C>G (p.Arg390Gly) | gnomAD v4 |
| 19 | g.12649427G= | CA2323499687 | MAN2B1 | c.2269C= (p.Arg757=) c.2266C= (p.Arg756=) n.2859C= c.2272C= (p.Arg758=) c.1168C= (p.Arg390=) | |
| 19 | g.12649427G>T | CA505624526 | MAN2B1 | c.2269C>A (p.Arg757=) c.2266C>A (p.Arg756=) n.2859C>A c.2272C>A (p.Arg758=) c.1168C>A (p.Arg390=) | |
| 19 | g.12649428C>A | CA404241808 | MAN2B1 | c.2268G>T (p.Arg756Ser) c.2265G>T (p.Arg755Ser) n.2858G>T c.2271G>T (p.Arg757Ser) c.1167G>T (p.Arg389Ser) | |
| 19 | g.12649428C= | CA2323499688 | MAN2B1 | c.2268G= (p.Arg756=) c.2265G= (p.Arg755=) n.2858G= c.2271G= (p.Arg757=) c.1167G= (p.Arg389=) | |
| 19 | g.12649428C>G | CA404241809 | MAN2B1 | c.2268G>C (p.Arg756Ser) c.2265G>C (p.Arg755Ser) n.2858G>C c.2271G>C (p.Arg757Ser) c.1167G>C (p.Arg389Ser) | |
| 19 | g.12649428C>T | CA9226095 | MAN2B1 | c.2268G>A (p.Arg756=) c.2265G>A (p.Arg755=) n.2858G>A c.2271G>A (p.Arg757=) c.1167G>A (p.Arg389=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.12649429C>A | CA404241810 | MAN2B1 | c.2268-1G>T (n.2268-1G>T) c.2265-1G>T (n.2265-1G>T) n.2858-1G>T c.2271-1G>T (n.2271-1G>T) c.1167-1G>T (n.1167-1G>T) | |
| 19 | g.12649429C= | CA2323499689 | MAN2B1 | c.2268-1G= (n.2268-1G=) c.2265-1G= (n.2265-1G=) n.2858-1G= c.2271-1G= (n.2271-1G=) c.1167-1G= (n.1167-1G=) | |
| 19 | g.12649429C>G | CA404241811 | MAN2B1 | c.2268-1G>C (n.2268-1G>C) c.2265-1G>C (n.2265-1G>C) n.2858-1G>C c.2271-1G>C (n.2271-1G>C) c.1167-1G>C (n.1167-1G>C) | ClinVar dbSNP |
| 19 | g.12649429C>T | CA404241813 | MAN2B1 | c.2268-1G>A (n.2268-1G>A) c.2265-1G>A (n.2265-1G>A) n.2858-1G>A c.2271-1G>A (n.2271-1G>A) c.1167-1G>A (n.1167-1G>A) | |
| 19 | g.12649430T>A | CA404241815 | MAN2B1 | c.2268-2A>T (n.2268-2A>T) c.2265-2A>T (n.2265-2A>T) n.2858-2A>T c.2271-2A>T (n.2271-2A>T) c.1167-2A>T (n.1167-2A>T) | ClinVar dbSNP |
| 19 | g.12649430T>C | CA404241816 | MAN2B1 | c.2268-2A>G (n.2268-2A>G) c.2265-2A>G (n.2265-2A>G) n.2858-2A>G c.2271-2A>G (n.2271-2A>G) c.1167-2A>G (n.1167-2A>G) | gnomAD v4 |
| 19 | g.12649430T>G | CA404241818 | MAN2B1 | c.2268-2A>C (n.2268-2A>C) c.2265-2A>C (n.2265-2A>C) n.2858-2A>C c.2271-2A>C (n.2271-2A>C) c.1167-2A>C (n.1167-2A>C) | dbSNP gnomAD v4 |
| 19 | g.12649430T= | CA2323499690 | MAN2B1 | c.2268-2A= (n.2268-2A=) c.2265-2A= (n.2265-2A=) n.2858-2A= c.2271-2A= (n.2271-2A=) c.1167-2A= (n.1167-2A=) |