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 |
|---|---|---|---|---|---|
| 22 | g.30612944T>A | CA411208550 | TCN2 | n.500T>A c.329T>A (p.Leu110His) c.258-1405T>A (n.258-1405T>A) c.320T>A (p.Leu107His) c.317T>A (p.Leu106His) c.254T>A (p.Leu85His) | |
| 22 | g.30612944T>C | CA411208552 | TCN2 | n.500T>C c.329T>C (p.Leu110Pro) c.258-1405T>C (n.258-1405T>C) c.320T>C (p.Leu107Pro) c.317T>C (p.Leu106Pro) c.254T>C (p.Leu85Pro) | |
| 22 | g.30612944T>G | CA411208559 | TCN2 | n.500T>G c.329T>G (p.Leu110Arg) c.258-1405T>G (n.258-1405T>G) c.320T>G (p.Leu107Arg) c.317T>G (p.Leu106Arg) c.254T>G (p.Leu85Arg) | |
| 22 | g.30612945C>A | CA514220223 | TCN2 | n.501C>A c.330C>A (p.Leu110=) c.258-1404C>A (n.258-1404C>A) c.321C>A (p.Leu107=) c.318C>A (p.Leu106=) c.255C>A (p.Leu85=) | ClinVar |
| 22 | g.30612945C= | CA2401110027 | TCN2 | n.501C= c.330C= (p.Leu110=) c.258-1404C= (n.258-1404C=) c.321C= (p.Leu107=) c.318C= (p.Leu106=) c.255C= (p.Leu85=) | |
| 22 | g.30612945C>G | CA514220226 | TCN2 | n.501C>G c.330C>G (p.Leu110=) c.258-1404C>G (n.258-1404C>G) c.321C>G (p.Leu107=) c.318C>G (p.Leu106=) c.255C>G (p.Leu85=) | |
| 22 | g.30612945C>T | CA10184586 | TCN2 | n.501C>T c.330C>T (p.Leu110=) c.258-1404C>T (n.258-1404C>T) c.321C>T (p.Leu107=) c.318C>T (p.Leu106=) c.255C>T (p.Leu85=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.30612945dup | CA2695230567 | TCN2 | n.501dup c.330dup (p.Ala111ArgfsTer7) c.258-1404dup (n.258-1404dup) c.321dup (p.Ala108ArgfsTer7) c.318dup (p.Ala107ArgfsTer7) c.330dup (p.Ala111ArgfsTer8) c.255dup (p.Ala86ArgfsTer7) | |
| 22 | g.30612946G>A | CA10184587 | TCN2 | n.502G>A c.331G>A (p.Ala111Thr) c.258-1403G>A (n.258-1403G>A) c.322G>A (p.Ala108Thr) c.319G>A (p.Ala107Thr) c.256G>A (p.Ala86Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.30612946G>C | CA411208571 | TCN2 | n.502G>C c.331G>C (p.Ala111Pro) c.258-1403G>C (n.258-1403G>C) c.322G>C (p.Ala108Pro) c.319G>C (p.Ala107Pro) c.256G>C (p.Ala86Pro) | dbSNP |
| 22 | g.30612946G= | CA2401110028 | TCN2 | n.502G= c.331G= (p.Ala111=) c.258-1403G= (n.258-1403G=) c.322G= (p.Ala108=) c.319G= (p.Ala107=) c.256G= (p.Ala86=) | |
| 22 | g.30612946G>T | CA411208575 | TCN2 | n.502G>T c.331G>T (p.Ala111Ser) c.258-1403G>T (n.258-1403G>T) c.322G>T (p.Ala108Ser) c.319G>T (p.Ala107Ser) c.256G>T (p.Ala86Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.30612947C>A | CA411208588 | TCN2 | n.503C>A c.332C>A (p.Ala111Asp) c.258-1402C>A (n.258-1402C>A) c.323C>A (p.Ala108Asp) c.320C>A (p.Ala107Asp) c.257C>A (p.Ala86Asp) | |
| 22 | g.30612947C= | CA2401110029 | TCN2 | n.503C= c.332C= (p.Ala111=) c.258-1402C= (n.258-1402C=) c.323C= (p.Ala108=) c.320C= (p.Ala107=) c.257C= (p.Ala86=) | |
| 22 | g.30612947C>G | CA411208601 | TCN2 | n.503C>G c.332C>G (p.Ala111Gly) c.258-1402C>G (n.258-1402C>G) c.323C>G (p.Ala108Gly) c.320C>G (p.Ala107Gly) c.257C>G (p.Ala86Gly) | gnomAD v4 |
| 22 | g.30612947C>T | CA10184588 | TCN2 | n.503C>T c.332C>T (p.Ala111Val) c.258-1402C>T (n.258-1402C>T) c.323C>T (p.Ala108Val) c.320C>T (p.Ala107Val) c.257C>T (p.Ala86Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.30612948T>A | CA514220234 | TCN2 | n.504T>A c.333T>A (p.Ala111=) c.258-1401T>A (n.258-1401T>A) c.324T>A (p.Ala108=) c.321T>A (p.Ala107=) c.258T>A (p.Ala86=) | |
| 22 | g.30612948T>C | CA514220237 | TCN2 | n.504T>C c.333T>C (p.Ala111=) c.258-1401T>C (n.258-1401T>C) c.324T>C (p.Ala108=) c.321T>C (p.Ala107=) c.258T>C (p.Ala86=) | |
| 22 | g.30612948T>G | CA10184589 | TCN2 | n.504T>G c.333T>G (p.Ala111=) c.258-1401T>G (n.258-1401T>G) c.324T>G (p.Ala108=) c.321T>G (p.Ala107=) c.258T>G (p.Ala86=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.30612948T= | CA2401110030 | TCN2 | n.504T= c.333T= (p.Ala111=) c.258-1401T= (n.258-1401T=) c.324T= (p.Ala108=) c.321T= (p.Ala107=) c.258T= (p.Ala86=) | |
| 22 | g.30612949C>A | CA411208615 | TCN2 | n.505C>A c.334C>A (p.Leu112Ile) c.258-1400C>A (n.258-1400C>A) c.325C>A (p.Leu109Ile) c.322C>A (p.Leu108Ile) c.259C>A (p.Leu87Ile) | |
| 22 | g.30612949C= | CA2401110031 | TCN2 | n.505C= c.334C= (p.Leu112=) c.258-1400C= (n.258-1400C=) c.325C= (p.Leu109=) c.322C= (p.Leu108=) c.259C= (p.Leu87=) | |
| 22 | g.30612949C>G | CA411208616 | TCN2 | n.505C>G c.334C>G (p.Leu112Val) c.258-1400C>G (n.258-1400C>G) c.325C>G (p.Leu109Val) c.322C>G (p.Leu108Val) c.259C>G (p.Leu87Val) | ClinVar dbSNP gnomAD v4 |
| 22 | g.30612949C>T | CA10184591 | TCN2 | n.505C>T c.334C>T (p.Leu112Phe) c.258-1400C>T (n.258-1400C>T) c.325C>T (p.Leu109Phe) c.322C>T (p.Leu108Phe) c.259C>T (p.Leu87Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.30612950_30612956dup | CA10184590 | TCN2 | n.506_512dup c.335_341dup (p.Asn115GlnfsTer5) c.258-1399_258-1393dup (n.258-1399_258-1393dup) c.326_332dup (p.Asn112GlnfsTer5) c.323_329dup (p.Asn111GlnfsTer5) c.335_341dup (p.Asn115GlnfsTer6) c.260_266dup (p.Asn90GlnfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.30612950T>A | CA411208626 | TCN2 | n.506T>A c.335T>A (p.Leu112His) c.258-1399T>A (n.258-1399T>A) c.326T>A (p.Leu109His) c.323T>A (p.Leu108His) c.260T>A (p.Leu87His) | |
| 22 | g.30612950T>C | CA411208624 | TCN2 | n.506T>C c.335T>C (p.Leu112Pro) c.258-1399T>C (n.258-1399T>C) c.326T>C (p.Leu109Pro) c.323T>C (p.Leu108Pro) c.260T>C (p.Leu87Pro) | |
| 22 | g.30612950T>G | CA411208621 | TCN2 | n.506T>G c.335T>G (p.Leu112Arg) c.258-1399T>G (n.258-1399T>G) c.326T>G (p.Leu109Arg) c.323T>G (p.Leu108Arg) c.260T>G (p.Leu87Arg) | gnomAD v4 |
| 22 | g.30612951C>A | CA514220253 | TCN2 | n.507C>A c.336C>A (p.Leu112=) c.258-1398C>A (n.258-1398C>A) c.327C>A (p.Leu109=) c.324C>A (p.Leu108=) c.261C>A (p.Leu87=) | |
| 22 | g.30612951C= | CA2401110032 | TCN2 | n.507C= c.336C= (p.Leu112=) c.258-1398C= (n.258-1398C=) c.327C= (p.Leu109=) c.324C= (p.Leu108=) c.261C= (p.Leu87=) | |
| 22 | g.30612951C>G | CA514220257 | TCN2 | n.507C>G c.336C>G (p.Leu112=) c.258-1398C>G (n.258-1398C>G) c.327C>G (p.Leu109=) c.324C>G (p.Leu108=) c.261C>G (p.Leu87=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.30612951C>T | CA514220255 | TCN2 | n.507C>T c.336C>T (p.Leu112=) c.258-1398C>T (n.258-1398C>T) c.327C>T (p.Leu109=) c.324C>T (p.Leu108=) c.261C>T (p.Leu87=) | |
| 22 | g.30612952A>C | CA514220260 | TCN2 | n.508A>C c.337A>C (p.Arg113=) c.258-1397A>C (n.258-1397A>C) c.328A>C (p.Arg110=) c.325A>C (p.Arg109=) c.262A>C (p.Arg88=) | |
| 22 | g.30612952A>G | CA411208631 | TCN2 | n.508A>G c.337A>G (p.Arg113Gly) c.258-1397A>G (n.258-1397A>G) c.328A>G (p.Arg110Gly) c.325A>G (p.Arg109Gly) c.262A>G (p.Arg88Gly) | |
| 22 | g.30612952A>T | CA411208630 | TCN2 | n.508A>T c.337A>T (p.Arg113Ter) c.258-1397A>T (n.258-1397A>T) c.328A>T (p.Arg110Ter) c.325A>T (p.Arg109Ter) c.262A>T (p.Arg88Ter) | |
| 22 | g.30612953G>A | CA411208634 | TCN2 | n.509G>A c.338G>A (p.Arg113Lys) c.258-1396G>A (n.258-1396G>A) c.329G>A (p.Arg110Lys) c.326G>A (p.Arg109Lys) c.263G>A (p.Arg88Lys) | |
| 22 | g.30612953G>C | CA411208632 | TCN2 | n.509G>C c.338G>C (p.Arg113Thr) c.258-1396G>C (n.258-1396G>C) c.329G>C (p.Arg110Thr) c.326G>C (p.Arg109Thr) c.263G>C (p.Arg88Thr) | gnomAD v4 |
| 22 | g.30612953G>T | CA411208635 | TCN2 | n.509G>T c.338G>T (p.Arg113Ile) c.258-1396G>T (n.258-1396G>T) c.329G>T (p.Arg110Ile) c.326G>T (p.Arg109Ile) c.263G>T (p.Arg88Ile) | |
| 22 | g.30612954A>C | CA411208638 | TCN2 | n.510A>C c.339A>C (p.Arg113Ser) c.258-1395A>C (n.258-1395A>C) c.330A>C (p.Arg110Ser) c.327A>C (p.Arg109Ser) c.264A>C (p.Arg88Ser) | |
| 22 | g.30612954A>G | CA514220276 | TCN2 | n.510A>G c.339A>G (p.Arg113=) c.258-1395A>G (n.258-1395A>G) c.330A>G (p.Arg110=) c.327A>G (p.Arg109=) c.264A>G (p.Arg88=) | |
| 22 | g.30612954A>T | CA411208639 | TCN2 | n.510A>T c.339A>T (p.Arg113Ser) c.258-1395A>T (n.258-1395A>T) c.330A>T (p.Arg110Ser) c.327A>T (p.Arg109Ser) c.264A>T (p.Arg88Ser) | |
| 22 | g.30612955G>A | CA411208640 | TCN2 | n.511G>A c.340G>A (p.Ala114Thr) c.258-1394G>A (n.258-1394G>A) c.331G>A (p.Ala111Thr) c.328G>A (p.Ala110Thr) c.265G>A (p.Ala89Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.30612955G>C | CA411208642 | TCN2 | n.511G>C c.340G>C (p.Ala114Pro) c.258-1394G>C (n.258-1394G>C) c.331G>C (p.Ala111Pro) c.328G>C (p.Ala110Pro) c.265G>C (p.Ala89Pro) | |
| 22 | g.30612955G= | CA2401110033 | TCN2 | n.511G= c.340G= (p.Ala114=) c.258-1394G= (n.258-1394G=) c.331G= (p.Ala111=) c.328G= (p.Ala110=) c.265G= (p.Ala89=) | |
| 22 | g.30612955G>T | CA411208645 | TCN2 | n.511G>T c.340G>T (p.Ala114Ser) c.258-1394G>T (n.258-1394G>T) c.331G>T (p.Ala111Ser) c.328G>T (p.Ala110Ser) c.265G>T (p.Ala89Ser) | |
| 22 | g.30612956C>A | CA411208649 | TCN2 | n.512C>A c.341C>A (p.Ala114Asp) c.258-1393C>A (n.258-1393C>A) c.332C>A (p.Ala111Asp) c.329C>A (p.Ala110Asp) c.266C>A (p.Ala89Asp) | |
| 22 | g.30612956C>G | CA411208652 | TCN2 | n.512C>G c.341C>G (p.Ala114Gly) c.258-1393C>G (n.258-1393C>G) c.332C>G (p.Ala111Gly) c.329C>G (p.Ala110Gly) c.266C>G (p.Ala89Gly) | |
| 22 | g.30612956C>T | CA411208657 | TCN2 | n.512C>T c.341C>T (p.Ala114Val) c.258-1393C>T (n.258-1393C>T) c.332C>T (p.Ala111Val) c.329C>T (p.Ala110Val) c.266C>T (p.Ala89Val) | |
| 22 | g.30612957C>A | CA514220296 | TCN2 | n.513C>A c.342C>A (p.Ala114=) c.258-1392C>A (n.258-1392C>A) c.333C>A (p.Ala111=) c.330C>A (p.Ala110=) c.267C>A (p.Ala89=) | |
| 22 | g.30612957C>G | CA514220294 | TCN2 | n.513C>G c.342C>G (p.Ala114=) c.258-1392C>G (n.258-1392C>G) c.333C>G (p.Ala111=) c.330C>G (p.Ala110=) c.267C>G (p.Ala89=) |