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 |
|---|---|---|---|---|---|
| 5 | g.149008989del | CA342387 | SH3TC2 | c.3237del c.3341del (p.Pro1114LeufsTer2) c.*2625del (n.*2625del) c.*2729del (n.*2729del) c.2871del (n.2871del) c.2391del c.3320del (p.Pro1107LeufsTer2) n.3del | ClinVar dbSNP gnomAD v4 |
| 5 | g.149008989G>A | CA361664739 | SH3TC2 | c.3236C>T c.3340C>T (p.Pro1114Ser) c.*2624C>T (n.*2624C>T) c.*2728C>T (n.*2728C>T) c.2870C>T (n.2870C>T) c.2390C>T c.3319C>T (p.Pro1107Ser) n.2C>T | |
| 5 | g.149008989G>C | CA3498760 | SH3TC2 | c.3236C>G c.3340C>G (p.Pro1114Ala) c.*2624C>G (n.*2624C>G) c.*2728C>G (n.*2728C>G) c.2870C>G (n.2870C>G) c.2390C>G c.3319C>G (p.Pro1107Ala) n.2C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149008989G= | CA1590304268 | SH3TC2 | c.3236C= c.3340C= (p.Pro1114=) c.*2624C= (n.*2624C=) c.*2728C= (n.*2728C=) c.2870C= (n.2870C=) c.2390C= c.3319C= (p.Pro1107=) n.2C= | |
| 5 | g.149008989G>T | CA361664740 | SH3TC2 | c.3236C>A c.3340C>A (p.Pro1114Thr) c.*2624C>A (n.*2624C>A) c.*2728C>A (n.*2728C>A) c.2870C>A (n.2870C>A) c.2390C>A c.3319C>A (p.Pro1107Thr) n.2C>A | |
| 5 | g.149008990A>C | CA447111314 | SH3TC2 | c.3235T>G c.3339T>G (p.Val1113=) c.*2623T>G (n.*2623T>G) c.*2727T>G (n.*2727T>G) c.2869T>G (n.2869T>G) c.2389T>G c.3318T>G (p.Val1106=) n.1T>G | |
| 5 | g.149008990A>G | CA447111309 | SH3TC2 | c.3235T>C c.3339T>C (p.Val1113=) c.*2623T>C (n.*2623T>C) c.*2727T>C (n.*2727T>C) c.2869T>C (n.2869T>C) c.2389T>C c.3318T>C (p.Val1106=) n.1T>C | |
| 5 | g.149008990A>T | CA447111311 | SH3TC2 | c.3235T>A c.3339T>A (p.Val1113=) c.*2623T>A (n.*2623T>A) c.*2727T>A (n.*2727T>A) c.2869T>A (n.2869T>A) c.2389T>A c.3318T>A (p.Val1106=) n.1T>A | |
| 5 | g.149008991A>C | CA361664741 | SH3TC2 | c.3234T>G c.3338T>G (p.Val1113Gly) c.*2622T>G (n.*2622T>G) c.*2726T>G (n.*2726T>G) c.2868T>G (n.2868T>G) c.2388T>G c.3317T>G (p.Val1106Gly) | |
| 5 | g.149008991A>G | CA361664742 | SH3TC2 | c.3234T>C c.3338T>C (p.Val1113Ala) c.*2622T>C (n.*2622T>C) c.*2726T>C (n.*2726T>C) c.2868T>C (n.2868T>C) c.2388T>C c.3317T>C (p.Val1106Ala) | |
| 5 | g.149008991A>T | CA361664743 | SH3TC2 | c.3234T>A c.3338T>A (p.Val1113Asp) c.*2622T>A (n.*2622T>A) c.*2726T>A (n.*2726T>A) c.2868T>A (n.2868T>A) c.2388T>A c.3317T>A (p.Val1106Asp) | |
| 5 | g.149008992C>A | CA361664744 | SH3TC2 | c.3233G>T c.3337G>T (p.Val1113Phe) c.*2621G>T (n.*2621G>T) c.*2725G>T (n.*2725G>T) c.2867G>T (n.2867G>T) c.2387G>T c.3316G>T (p.Val1106Phe) | gnomAD v4 |
| 5 | g.149008992C= | CA1590304269 | SH3TC2 | c.3233G= c.3337G= (p.Val1113=) c.*2621G= (n.*2621G=) c.*2725G= (n.*2725G=) c.2867G= (n.2867G=) c.2387G= c.3316G= (p.Val1106=) | |
| 5 | g.149008992C>G | CA361664745 | SH3TC2 | c.3233G>C c.3337G>C (p.Val1113Leu) c.*2621G>C (n.*2621G>C) c.*2725G>C (n.*2725G>C) c.2867G>C (n.2867G>C) c.2387G>C c.3316G>C (p.Val1106Leu) | |
| 5 | g.149008992C>T | CA361664746 | SH3TC2 | c.3233G>A c.3337G>A (p.Val1113Ile) c.*2621G>A (n.*2621G>A) c.*2725G>A (n.*2725G>A) c.2867G>A (n.2867G>A) c.2387G>A c.3316G>A (p.Val1106Ile) | dbSNP gnomAD v4 |
| 5 | g.149008993A>C | CA447111329 | SH3TC2 | c.3232T>G c.3336T>G (p.Ala1112=) c.*2620T>G (n.*2620T>G) c.*2724T>G (n.*2724T>G) c.2866T>G (n.2866T>G) c.2386T>G c.3315T>G (p.Ala1105=) | |
| 5 | g.149008993A>G | CA447111330 | SH3TC2 | c.3232T>C c.3336T>C (p.Ala1112=) c.*2620T>C (n.*2620T>C) c.*2724T>C (n.*2724T>C) c.2866T>C (n.2866T>C) c.2386T>C c.3315T>C (p.Ala1105=) | |
| 5 | g.149008993A>T | CA447111345 | SH3TC2 | c.3232T>A c.3336T>A (p.Ala1112=) c.*2620T>A (n.*2620T>A) c.*2724T>A (n.*2724T>A) c.2866T>A (n.2866T>A) c.2386T>A c.3315T>A (p.Ala1105=) | |
| 5 | g.149008994G>A | CA361664747 | SH3TC2 | c.3231C>T c.3335C>T (p.Ala1112Val) c.*2619C>T (n.*2619C>T) c.*2723C>T (n.*2723C>T) c.2865C>T (n.2865C>T) c.2385C>T c.3314C>T (p.Ala1105Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149008994G>C | CA3498761 | SH3TC2 | c.3231C>G c.3335C>G (p.Ala1112Gly) c.*2619C>G (n.*2619C>G) c.*2723C>G (n.*2723C>G) c.2865C>G (n.2865C>G) c.2385C>G c.3314C>G (p.Ala1105Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149008994G= | CA1590304270 | SH3TC2 | c.3231C= c.3335C= (p.Ala1112=) c.*2619C= (n.*2619C=) c.*2723C= (n.*2723C=) c.2865C= (n.2865C=) c.2385C= c.3314C= (p.Ala1105=) | |
| 5 | g.149008994G>T | CA361664748 | SH3TC2 | c.3231C>A c.3335C>A (p.Ala1112Asp) c.*2619C>A (n.*2619C>A) c.*2723C>A (n.*2723C>A) c.2865C>A (n.2865C>A) c.2385C>A c.3314C>A (p.Ala1105Asp) | |
| 5 | g.149008995C>A | CA361664749 | SH3TC2 | c.3230G>T c.3334G>T (p.Ala1112Ser) c.*2618G>T (n.*2618G>T) c.*2722G>T (n.*2722G>T) c.2864G>T (n.2864G>T) c.2384G>T c.3313G>T (p.Ala1105Ser) | |
| 5 | g.149008995C>G | CA361664750 | SH3TC2 | c.3230G>C c.3334G>C (p.Ala1112Pro) c.*2618G>C (n.*2618G>C) c.*2722G>C (n.*2722G>C) c.2864G>C (n.2864G>C) c.2384G>C c.3313G>C (p.Ala1105Pro) | |
| 5 | g.149008995C>T | CA361664751 | SH3TC2 | c.3230G>A c.3334G>A (p.Ala1112Thr) c.*2618G>A (n.*2618G>A) c.*2722G>A (n.*2722G>A) c.2864G>A (n.2864G>A) c.2384G>A c.3313G>A (p.Ala1105Thr) | gnomAD v4 |
| 5 | g.149008996T>A | CA447111359 | SH3TC2 | c.3229A>T c.3333A>T (p.Gly1111=) c.*2617A>T (n.*2617A>T) c.*2721A>T (n.*2721A>T) c.2863A>T (n.2863A>T) c.2383A>T c.3312A>T (p.Gly1104=) | dbSNP gnomAD v4 |
| 5 | g.149008996T>C | CA447111364 | SH3TC2 | c.3229A>G c.3333A>G (p.Gly1111=) c.*2617A>G (n.*2617A>G) c.*2721A>G (n.*2721A>G) c.2863A>G (n.2863A>G) c.2383A>G c.3312A>G (p.Gly1104=) | gnomAD v4 |
| 5 | g.149008996T>G | CA447111365 | SH3TC2 | c.3229A>C c.3333A>C (p.Gly1111=) c.*2617A>C (n.*2617A>C) c.*2721A>C (n.*2721A>C) c.2863A>C (n.2863A>C) c.2383A>C c.3312A>C (p.Gly1104=) | |
| 5 | g.149008996T= | CA1590304271 | SH3TC2 | c.3229A= c.3333A= (p.Gly1111=) c.*2617A= (n.*2617A=) c.*2721A= (n.*2721A=) c.2863A= (n.2863A=) c.2383A= c.3312A= (p.Gly1104=) | |
| 5 | g.149008997C>A | CA3498762 | SH3TC2 | c.3228G>T c.3332G>T (p.Gly1111Val) c.*2616G>T (n.*2616G>T) c.*2720G>T (n.*2720G>T) c.2862G>T (n.2862G>T) c.2382G>T c.3311G>T (p.Gly1104Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149008997C= | CA1590304272 | SH3TC2 | c.3228G= c.3332G= (p.Gly1111=) c.*2616G= (n.*2616G=) c.*2720G= (n.*2720G=) c.2862G= (n.2862G=) c.2382G= c.3311G= (p.Gly1104=) | |
| 5 | g.149008997C>G | CA361664752 | SH3TC2 | c.3228G>C c.3332G>C (p.Gly1111Ala) c.*2616G>C (n.*2616G>C) c.*2720G>C (n.*2720G>C) c.2862G>C (n.2862G>C) c.2382G>C c.3311G>C (p.Gly1104Ala) | |
| 5 | g.149008997C>T | CA3498763 | SH3TC2 | c.3228G>A c.3332G>A (p.Gly1111Glu) c.*2616G>A (n.*2616G>A) c.*2720G>A (n.*2720G>A) c.2862G>A (n.2862G>A) c.2382G>A c.3311G>A (p.Gly1104Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149008998C>A | CA361664753 | SH3TC2 | c.3227G>T c.3331G>T (p.Gly1111Ter) c.*2615G>T (n.*2615G>T) c.*2719G>T (n.*2719G>T) c.2861G>T (n.2861G>T) c.2381G>T c.3310G>T (p.Gly1104Ter) | |
| 5 | g.149008998C>G | CA361664754 | SH3TC2 | c.3227G>C c.3331G>C (p.Gly1111Arg) c.*2615G>C (n.*2615G>C) c.*2719G>C (n.*2719G>C) c.2861G>C (n.2861G>C) c.2381G>C c.3310G>C (p.Gly1104Arg) | |
| 5 | g.149008998C>T | CA361664755 | SH3TC2 | c.3227G>A c.3331G>A (p.Gly1111Arg) c.*2615G>A (n.*2615G>A) c.*2719G>A (n.*2719G>A) c.2861G>A (n.2861G>A) c.2381G>A c.3310G>A (p.Gly1104Arg) | |
| 5 | g.149008999A>C | CA447111382 | SH3TC2 | c.3226T>G c.3330T>G (p.Ala1110=) c.*2614T>G (n.*2614T>G) c.*2718T>G (n.*2718T>G) c.2860T>G (n.2860T>G) c.2380T>G c.3309T>G (p.Ala1103=) | |
| 5 | g.149008999A>G | CA447111384 | SH3TC2 | c.3226T>C c.3330T>C (p.Ala1110=) c.*2614T>C (n.*2614T>C) c.*2718T>C (n.*2718T>C) c.2860T>C (n.2860T>C) c.2380T>C c.3309T>C (p.Ala1103=) | gnomAD v4 |
| 5 | g.149008999A>T | CA447111387 | SH3TC2 | c.3226T>A c.3330T>A (p.Ala1110=) c.*2614T>A (n.*2614T>A) c.*2718T>A (n.*2718T>A) c.2860T>A (n.2860T>A) c.2380T>A c.3309T>A (p.Ala1103=) | |
| 5 | g.149009000G>A | CA361664756 | SH3TC2 | c.3225C>T c.3329C>T (p.Ala1110Val) c.*2613C>T (n.*2613C>T) c.*2717C>T (n.*2717C>T) c.2859C>T (n.2859C>T) c.2379C>T c.3308C>T (p.Ala1103Val) | |
| 5 | g.149009000G>C | CA361664757 | SH3TC2 | c.3225C>G c.3329C>G (p.Ala1110Gly) c.*2613C>G (n.*2613C>G) c.*2717C>G (n.*2717C>G) c.2859C>G (n.2859C>G) c.2379C>G c.3308C>G (p.Ala1103Gly) | |
| 5 | g.149009000G>T | CA361664758 | SH3TC2 | c.3225C>A c.3329C>A (p.Ala1110Asp) c.*2613C>A (n.*2613C>A) c.*2717C>A (n.*2717C>A) c.2859C>A (n.2859C>A) c.2379C>A c.3308C>A (p.Ala1103Asp) | |
| 5 | g.149009001C>A | CA361664759 | SH3TC2 | c.3224G>T c.3328G>T (p.Ala1110Ser) c.*2612G>T (n.*2612G>T) c.*2716G>T (n.*2716G>T) c.2858G>T (n.2858G>T) c.2378G>T c.3307G>T (p.Ala1103Ser) | |
| 5 | g.149009001C>G | CA361664760 | SH3TC2 | c.3224G>C c.3328G>C (p.Ala1110Pro) c.*2612G>C (n.*2612G>C) c.*2716G>C (n.*2716G>C) c.2858G>C (n.2858G>C) c.2378G>C c.3307G>C (p.Ala1103Pro) | |
| 5 | g.149009001C>T | CA361664761 | SH3TC2 | c.3224G>A c.3328G>A (p.Ala1110Thr) c.*2612G>A (n.*2612G>A) c.*2716G>A (n.*2716G>A) c.2858G>A (n.2858G>A) c.2378G>A c.3307G>A (p.Ala1103Thr) | |
| 5 | g.149009002C>A | CA361664762 | SH3TC2 | c.3224-1G>T c.3328-1G>T (n.3328-1G>T) c.*2612-1G>T (n.*2612-1G>T) c.*2716-1G>T (n.*2716-1G>T) c.2858-1G>T (n.2858-1G>T) c.2378-1G>T c.3307-1G>T (n.3307-1G>T) | ClinVar dbSNP |
| 5 | g.149009002C= | CA1590304273 | SH3TC2 | c.3224-1G= c.3328-1G= (n.3328-1G=) c.*2612-1G= (n.*2612-1G=) c.*2716-1G= (n.*2716-1G=) c.2858-1G= (n.2858-1G=) c.2378-1G= c.3307-1G= (n.3307-1G=) | |
| 5 | g.149009002C>G | CA361664763 | SH3TC2 | c.3224-1G>C c.3328-1G>C (n.3328-1G>C) c.*2612-1G>C (n.*2612-1G>C) c.*2716-1G>C (n.*2716-1G>C) c.2858-1G>C (n.2858-1G>C) c.2378-1G>C c.3307-1G>C (n.3307-1G>C) | |
| 5 | g.149009002C>T | CA361664764 | SH3TC2 | c.3224-1G>A c.3328-1G>A (n.3328-1G>A) c.*2612-1G>A (n.*2612-1G>A) c.*2716-1G>A (n.*2716-1G>A) c.2858-1G>A (n.2858-1G>A) c.2378-1G>A c.3307-1G>A (n.3307-1G>A) | |
| 5 | g.149009003T>A | CA361664765 | SH3TC2 | c.3224-2A>T c.3328-2A>T (n.3328-2A>T) c.*2612-2A>T (n.*2612-2A>T) c.*2716-2A>T (n.*2716-2A>T) c.2858-2A>T (n.2858-2A>T) c.2378-2A>T c.3307-2A>T (n.3307-2A>T) |