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.12649154A>C | CA404240961 | MAN2B1 | c.2418T>G (p.Asp806Glu) c.2415T>G (p.Asp805Glu) n.3008T>G c.2421T>G (p.Asp807Glu) c.1317T>G (p.Asp439Glu) | |
| 19 | g.12649154A>G | CA505624430 | MAN2B1 | c.2418T>C (p.Asp806=) c.2415T>C (p.Asp805=) n.3008T>C c.2421T>C (p.Asp807=) c.1317T>C (p.Asp439=) | |
| 19 | g.12649154A>T | CA404240965 | MAN2B1 | c.2418T>A (p.Asp806Glu) c.2415T>A (p.Asp805Glu) n.3008T>A c.2421T>A (p.Asp807Glu) c.1317T>A (p.Asp439Glu) | |
| 19 | g.12649154_12649158delinsATCTC | CA2323499557 | MAN2B1 | c.2414_2418delinsGAGAT (p.Arg805=) c.2411_2415delinsGAGAT (p.Arg804=) n.3004_3008delinsGAGAT c.2417_2421delinsGAGAT (p.Arg806=) c.1313_1317delinsGAGAT (p.Arg438=) | |
| 19 | g.12649155T>A | CA404240969 | MAN2B1 | c.2417A>T (p.Asp806Val) c.2414A>T (p.Asp805Val) n.3007A>T c.2420A>T (p.Asp807Val) c.1316A>T (p.Asp439Val) | |
| 19 | g.12649155T>C | CA404240973 | MAN2B1 | c.2417A>G (p.Asp806Gly) c.2414A>G (p.Asp805Gly) n.3007A>G c.2420A>G (p.Asp807Gly) c.1316A>G (p.Asp439Gly) | |
| 19 | g.12649155T>G | CA404240971 | MAN2B1 | c.2417A>C (p.Asp806Ala) c.2414A>C (p.Asp805Ala) n.3007A>C c.2420A>C (p.Asp807Ala) c.1316A>C (p.Asp439Ala) | |
| 19 | g.12649157_12649160del | CA631832606 | MAN2B1 | c.2414_2417del (p.Arg805MetfsTer13) c.2411_2414del (p.Arg804MetfsTer13) n.3004_3007del c.2417_2420del (p.Arg806MetfsTer13) c.1313_1316del (p.Arg438MetfsTer13) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.12649156C>A | CA404240977 | MAN2B1 | c.2416G>T (p.Asp806Tyr) c.2413G>T (p.Asp805Tyr) n.3006G>T c.2419G>T (p.Asp807Tyr) c.1315G>T (p.Asp439Tyr) | |
| 19 | g.12649156C= | CA2323499558 | MAN2B1 | c.2416G= (p.Asp806=) c.2413G= (p.Asp805=) n.3006G= c.2419G= (p.Asp807=) c.1315G= (p.Asp439=) | |
| 19 | g.12649156C>G | CA404240981 | MAN2B1 | c.2416G>C (p.Asp806His) c.2413G>C (p.Asp805His) n.3006G>C c.2419G>C (p.Asp807His) c.1315G>C (p.Asp439His) | gnomAD v4 |
| 19 | g.12649156C>T | CA404240987 | MAN2B1 | c.2416G>A (p.Asp806Asn) c.2413G>A (p.Asp805Asn) n.3006G>A c.2419G>A (p.Asp807Asn) c.1315G>A (p.Asp439Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.12649157T>A | CA404240989 | MAN2B1 | c.2415A>T (p.Arg805Ser) c.2412A>T (p.Arg804Ser) n.3005A>T c.2418A>T (p.Arg806Ser) c.1314A>T (p.Arg438Ser) | |
| 19 | g.12649157T>C | CA505624431 | MAN2B1 | c.2415A>G (p.Arg805=) c.2412A>G (p.Arg804=) n.3005A>G c.2418A>G (p.Arg806=) c.1314A>G (p.Arg438=) | ClinVar gnomAD v4 |
| 19 | g.12649157T>G | CA404240991 | MAN2B1 | c.2415A>C (p.Arg805Ser) c.2412A>C (p.Arg804Ser) n.3005A>C c.2418A>C (p.Arg806Ser) c.1314A>C (p.Arg438Ser) | |
| 19 | g.12649158C>A | CA404240993 | MAN2B1 | c.2414G>T (p.Arg805Ile) c.2411G>T (p.Arg804Ile) n.3004G>T c.2417G>T (p.Arg806Ile) c.1313G>T (p.Arg438Ile) | |
| 19 | g.12649158C= | CA2323499559 | MAN2B1 | c.2414G= (p.Arg805=) c.2411G= (p.Arg804=) n.3004G= c.2417G= (p.Arg806=) c.1313G= (p.Arg438=) | |
| 19 | g.12649158C>G | CA404240996 | MAN2B1 | c.2414G>C (p.Arg805Thr) c.2411G>C (p.Arg804Thr) n.3004G>C c.2417G>C (p.Arg806Thr) c.1313G>C (p.Arg438Thr) | dbSNP gnomAD v4 |
| 19 | g.12649158C>T | CA404240999 | MAN2B1 | c.2414G>A (p.Arg805Lys) c.2411G>A (p.Arg804Lys) n.3004G>A c.2417G>A (p.Arg806Lys) c.1313G>A (p.Arg438Lys) | |
| 19 | g.12649159T>A | CA404241001 | MAN2B1 | c.2413A>T (p.Arg805Ter) c.2410A>T (p.Arg804Ter) n.3003A>T c.2416A>T (p.Arg806Ter) c.1312A>T (p.Arg438Ter) | |
| 19 | g.12649159T>C | CA404241003 | MAN2B1 | c.2413A>G (p.Arg805Gly) c.2410A>G (p.Arg804Gly) n.3003A>G c.2416A>G (p.Arg806Gly) c.1312A>G (p.Arg438Gly) | |
| 19 | g.12649159T>G | CA505624432 | MAN2B1 | c.2413A>C (p.Arg805=) c.2410A>C (p.Arg804=) n.3003A>C c.2416A>C (p.Arg806=) c.1312A>C (p.Arg438=) | |
| 19 | g.12649160C>A | CA505624433 | MAN2B1 | c.2412G>T (p.Leu804=) c.2409G>T (p.Leu803=) n.3002G>T c.2415G>T (p.Leu805=) c.1311G>T (p.Leu437=) | |
| 19 | g.12649160C>G | CA505624434 | MAN2B1 | c.2412G>C (p.Leu804=) c.2409G>C (p.Leu803=) n.3002G>C c.2415G>C (p.Leu805=) c.1311G>C (p.Leu437=) | |
| 19 | g.12649160C>T | CA505624435 | MAN2B1 | c.2412G>A (p.Leu804=) c.2409G>A (p.Leu803=) n.3002G>A c.2415G>A (p.Leu805=) c.1311G>A (p.Leu437=) | |
| 19 | g.12649161A>C | CA404241015 | MAN2B1 | c.2411T>G (p.Leu804Arg) c.2408T>G (p.Leu803Arg) n.3001T>G c.2414T>G (p.Leu805Arg) c.1310T>G (p.Leu437Arg) | |
| 19 | g.12649161A>G | CA404241011 | MAN2B1 | c.2411T>C (p.Leu804Pro) c.2408T>C (p.Leu803Pro) n.3001T>C c.2414T>C (p.Leu805Pro) c.1310T>C (p.Leu437Pro) | |
| 19 | g.12649161A>T | CA404241008 | MAN2B1 | c.2411T>A (p.Leu804Gln) c.2408T>A (p.Leu803Gln) n.3001T>A c.2414T>A (p.Leu805Gln) c.1310T>A (p.Leu437Gln) | |
| 19 | g.12649162G>A | CA505624436 | MAN2B1 | c.2410C>T (p.Leu804=) c.2407C>T (p.Leu803=) n.3000C>T c.2413C>T (p.Leu805=) c.1309C>T (p.Leu437=) | |
| 19 | g.12649162G>C | CA404241022 | MAN2B1 | c.2410C>G (p.Leu804Val) c.2407C>G (p.Leu803Val) n.3000C>G c.2413C>G (p.Leu805Val) c.1309C>G (p.Leu437Val) | gnomAD v4 |
| 19 | g.12649162G>T | CA404241024 | MAN2B1 | c.2410C>A (p.Leu804Met) c.2407C>A (p.Leu803Met) n.3000C>A c.2413C>A (p.Leu805Met) c.1309C>A (p.Leu437Met) | |
| 19 | g.12649163G>A | CA9226041 | MAN2B1 | c.2409C>T (p.Ser803=) c.2406C>T (p.Ser802=) n.2999C>T c.2412C>T (p.Ser804=) c.1308C>T (p.Ser436=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.12649163G>C | CA404241029 | MAN2B1 | c.2409C>G (p.Ser803Arg) c.2406C>G (p.Ser802Arg) n.2999C>G c.2412C>G (p.Ser804Arg) c.1308C>G (p.Ser436Arg) | |
| 19 | g.12649163G= | CA2323499560 | MAN2B1 | c.2409C= (p.Ser803=) c.2406C= (p.Ser802=) n.2999C= c.2412C= (p.Ser804=) c.1308C= (p.Ser436=) | |
| 19 | g.12649163G>T | CA404241033 | MAN2B1 | c.2409C>A (p.Ser803Arg) c.2406C>A (p.Ser802Arg) n.2999C>A c.2412C>A (p.Ser804Arg) c.1308C>A (p.Ser436Arg) | |
| 19 | g.12649168_12649170del | CA2525780685 | MAN2B1 | c.2407_2409del (p.Ser803del) c.2404_2406del (p.Ser802del) n.2997_2999del c.2410_2412del (p.Ser804del) c.1306_1308del (p.Ser436del) | |
| 19 | g.12649164C>A | CA404241037 | MAN2B1 | c.2408G>T (p.Ser803Ile) c.2405G>T (p.Ser802Ile) n.2998G>T c.2411G>T (p.Ser804Ile) c.1307G>T (p.Ser436Ile) | |
| 19 | g.12649164C>G | CA404241038 | MAN2B1 | c.2408G>C (p.Ser803Thr) c.2405G>C (p.Ser802Thr) n.2998G>C c.2411G>C (p.Ser804Thr) c.1307G>C (p.Ser436Thr) | |
| 19 | g.12649164C>T | CA404241041 | MAN2B1 | c.2408G>A (p.Ser803Asn) c.2405G>A (p.Ser802Asn) n.2998G>A c.2411G>A (p.Ser804Asn) c.1307G>A (p.Ser436Asn) | |
| 19 | g.12649165T>A | CA404241049 | MAN2B1 | c.2407A>T (p.Ser803Cys) c.2404A>T (p.Ser802Cys) n.2997A>T c.2410A>T (p.Ser804Cys) c.1306A>T (p.Ser436Cys) | |
| 19 | g.12649165T>C | CA404241052 | MAN2B1 | c.2407A>G (p.Ser803Gly) c.2404A>G (p.Ser802Gly) n.2997A>G c.2410A>G (p.Ser804Gly) c.1306A>G (p.Ser436Gly) | |
| 19 | g.12649165T>G | CA404241054 | MAN2B1 | c.2407A>C (p.Ser803Arg) c.2404A>C (p.Ser802Arg) n.2997A>C c.2410A>C (p.Ser804Arg) c.1306A>C (p.Ser436Arg) | |
| 19 | g.12649166G>A | CA505624437 | MAN2B1 | c.2406C>T (p.Ser802=) c.2403C>T (p.Ser801=) n.2996C>T c.2409C>T (p.Ser803=) c.1305C>T (p.Ser435=) | |
| 19 | g.12649166G>C | CA404241059 | MAN2B1 | c.2406C>G (p.Ser802Arg) c.2403C>G (p.Ser801Arg) n.2996C>G c.2409C>G (p.Ser803Arg) c.1305C>G (p.Ser435Arg) | |
| 19 | g.12649166G>T | CA404241056 | MAN2B1 | c.2406C>A (p.Ser802Arg) c.2403C>A (p.Ser801Arg) n.2996C>A c.2409C>A (p.Ser803Arg) c.1305C>A (p.Ser435Arg) | gnomAD v4 |
| 19 | g.12649167C>A | CA404241068 | MAN2B1 | c.2405G>T (p.Ser802Ile) c.2402G>T (p.Ser801Ile) n.2995G>T c.2408G>T (p.Ser803Ile) c.1304G>T (p.Ser435Ile) | |
| 19 | g.12649167C>G | CA404241071 | MAN2B1 | c.2405G>C (p.Ser802Thr) c.2402G>C (p.Ser801Thr) n.2995G>C c.2408G>C (p.Ser803Thr) c.1304G>C (p.Ser435Thr) | |
| 19 | g.12649167C>T | CA404241073 | MAN2B1 | c.2405G>A (p.Ser802Asn) c.2402G>A (p.Ser801Asn) n.2995G>A c.2408G>A (p.Ser803Asn) c.1304G>A (p.Ser435Asn) | |
| 19 | g.12649168T>A | CA404241076 | MAN2B1 | c.2404A>T (p.Ser802Cys) c.2401A>T (p.Ser801Cys) n.2994A>T c.2407A>T (p.Ser803Cys) c.1303A>T (p.Ser435Cys) | |
| 19 | g.12649168T>C | CA9226042 | MAN2B1 | c.2404A>G (p.Ser802Gly) c.2401A>G (p.Ser801Gly) n.2994A>G c.2407A>G (p.Ser803Gly) c.1303A>G (p.Ser435Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |