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 |
|---|---|---|---|---|---|
| 12 | g.45852464G>A | CA479693752 | ARID2 | c.4341G>A (p.Leu1447=) c.550G>A c.4262G>A c.3894G>A (p.Leu1298=) c.3171G>A (p.Leu1057=) c.165G>A (p.Leu55=) n.3632G>A c.2709G>A (p.Leu903=) n.4489G>A n.4472G>A | dbSNP |
| 12 | g.45852464G>C | CA384491185 | ARID2 | c.4341G>C (p.Leu1447Phe) c.550G>C c.4262G>C c.3894G>C (p.Leu1298Phe) c.3171G>C (p.Leu1057Phe) c.165G>C (p.Leu55Phe) n.3632G>C c.2709G>C (p.Leu903Phe) n.4489G>C n.4472G>C | dbSNP |
| 12 | g.45852464G>T | CA384491186 | ARID2 | c.4341G>T (p.Leu1447Phe) c.550G>T c.4262G>T c.3894G>T (p.Leu1298Phe) c.3171G>T (p.Leu1057Phe) c.165G>T (p.Leu55Phe) n.3632G>T c.2709G>T (p.Leu903Phe) n.4489G>T n.4472G>T | |
| 12 | g.45852465C>A | CA384491191 | ARID2 | c.4342C>A (p.Leu1448Ile) c.551C>A c.4263C>A c.3895C>A (p.Leu1299Ile) c.3172C>A (p.Leu1058Ile) c.166C>A (p.Leu56Ile) n.3633C>A c.2710C>A (p.Leu904Ile) n.4490C>A n.4473C>A | dbSNP |
| 12 | g.45852465C= | CA2033475623 | ARID2 | c.4342C= (p.Leu1448=) c.551C= c.4263C= c.3895C= (p.Leu1299=) c.3172C= (p.Leu1058=) c.166C= (p.Leu56=) n.3633C= c.2710C= (p.Leu904=) n.4490C= n.4473C= | |
| 12 | g.45852465C>G | CA384491193 | ARID2 | c.4342C>G (p.Leu1448Val) c.551C>G c.4263C>G c.3895C>G (p.Leu1299Val) c.3172C>G (p.Leu1058Val) c.166C>G (p.Leu56Val) n.3633C>G c.2710C>G (p.Leu904Val) n.4490C>G n.4473C>G | dbSNP |
| 12 | g.45852465C>T | CA6526635 | ARID2 | c.4342C>T (p.Leu1448Phe) c.551C>T c.4263C>T c.3895C>T (p.Leu1299Phe) c.3172C>T (p.Leu1058Phe) c.166C>T (p.Leu56Phe) n.3633C>T c.2710C>T (p.Leu904Phe) n.4490C>T n.4473C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.45852466T>A | CA384491198 | ARID2 | c.4343T>A (p.Leu1448His) c.552T>A c.4264T>A c.3896T>A (p.Leu1299His) c.3173T>A (p.Leu1058His) c.167T>A (p.Leu56His) n.3634T>A c.2711T>A (p.Leu904His) n.4491T>A n.4474T>A | dbSNP |
| 12 | g.45852466T>C | CA384491200 | ARID2 | c.4343T>C (p.Leu1448Pro) c.552T>C c.4264T>C c.3896T>C (p.Leu1299Pro) c.3173T>C (p.Leu1058Pro) c.167T>C (p.Leu56Pro) n.3634T>C c.2711T>C (p.Leu904Pro) n.4491T>C n.4474T>C | dbSNP |
| 12 | g.45852466T>G | CA384491203 | ARID2 | c.4343T>G (p.Leu1448Arg) c.552T>G c.4264T>G c.3896T>G (p.Leu1299Arg) c.3173T>G (p.Leu1058Arg) c.167T>G (p.Leu56Arg) n.3634T>G c.2711T>G (p.Leu904Arg) n.4491T>G n.4474T>G | |
| 12 | g.45852467T>A | CA6526636 | ARID2 | c.4344T>A (p.Leu1448=) c.553T>A c.4265T>A c.3897T>A (p.Leu1299=) c.3174T>A (p.Leu1058=) c.168T>A (p.Leu56=) n.3635T>A c.2712T>A (p.Leu904=) n.4492T>A n.4475T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.45852467T>C | CA479693753 | ARID2 | c.4344T>C (p.Leu1448=) c.553T>C c.4265T>C c.3897T>C (p.Leu1299=) c.3174T>C (p.Leu1058=) c.168T>C (p.Leu56=) n.3635T>C c.2712T>C (p.Leu904=) n.4492T>C n.4475T>C | |
| 12 | g.45852467T>G | CA479693754 | ARID2 | c.4344T>G (p.Leu1448=) c.553T>G c.4265T>G c.3897T>G (p.Leu1299=) c.3174T>G (p.Leu1058=) c.168T>G (p.Leu56=) n.3635T>G c.2712T>G (p.Leu904=) n.4492T>G n.4475T>G | |
| 12 | g.45852467T= | CA2033475624 | ARID2 | c.4344T= (p.Leu1448=) c.553T= c.4265T= c.3897T= (p.Leu1299=) c.3174T= (p.Leu1058=) c.168T= (p.Leu56=) n.3635T= c.2712T= (p.Leu904=) n.4492T= n.4475T= | |
| 12 | g.45852468A= | CA2033475625 | ARID2 | c.4345A= (p.Asn1449=) c.554A= c.4266A= c.3898A= (p.Asn1300=) c.3175A= (p.Asn1059=) c.169A= (p.Asn57=) n.3636A= c.2713A= (p.Asn905=) n.4493A= n.4476A= | |
| 12 | g.45852468A>C | CA384491208 | ARID2 | c.4345A>C (p.Asn1449His) c.554A>C c.4266A>C c.3898A>C (p.Asn1300His) c.3175A>C (p.Asn1059His) c.169A>C (p.Asn57His) n.3636A>C c.2713A>C (p.Asn905His) n.4493A>C n.4476A>C | gnomAD v4 |
| 12 | g.45852468A>G | CA384491210 | ARID2 | c.4345A>G (p.Asn1449Asp) c.554A>G c.4266A>G c.3898A>G (p.Asn1300Asp) c.3175A>G (p.Asn1059Asp) c.169A>G (p.Asn57Asp) n.3636A>G c.2713A>G (p.Asn905Asp) n.4493A>G n.4476A>G | dbSNP |
| 12 | g.45852468A>T | CA384491212 | ARID2 | c.4345A>T (p.Asn1449Tyr) c.554A>T c.4266A>T c.3898A>T (p.Asn1300Tyr) c.3175A>T (p.Asn1059Tyr) c.169A>T (p.Asn57Tyr) n.3636A>T c.2713A>T (p.Asn905Tyr) n.4493A>T n.4476A>T | dbSNP |
| 12 | g.45852469A= | CA2033475626 | ARID2 | c.4346A= (p.Asn1449=) c.555A= c.4267A= c.3899A= (p.Asn1300=) c.3176A= (p.Asn1059=) c.170A= (p.Asn57=) n.3637A= c.2714A= (p.Asn905=) n.4494A= n.4477A= | |
| 12 | g.45852469A>C | CA384491216 | ARID2 | c.4346A>C (p.Asn1449Thr) c.555A>C c.4267A>C c.3899A>C (p.Asn1300Thr) c.3176A>C (p.Asn1059Thr) c.170A>C (p.Asn57Thr) n.3637A>C c.2714A>C (p.Asn905Thr) n.4494A>C n.4477A>C | dbSNP |
| 12 | g.45852469A>G | CA384491218 | ARID2 | c.4346A>G (p.Asn1449Ser) c.555A>G c.4267A>G c.3899A>G (p.Asn1300Ser) c.3176A>G (p.Asn1059Ser) c.170A>G (p.Asn57Ser) n.3637A>G c.2714A>G (p.Asn905Ser) n.4494A>G n.4477A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.45852469A>T | CA384491219 | ARID2 | c.4346A>T (p.Asn1449Ile) c.555A>T c.4267A>T c.3899A>T (p.Asn1300Ile) c.3176A>T (p.Asn1059Ile) c.170A>T (p.Asn57Ile) n.3637A>T c.2714A>T (p.Asn905Ile) n.4494A>T n.4477A>T | dbSNP |
| 12 | g.45852470T>A | CA384491222 | ARID2 | c.4347T>A (p.Asn1449Lys) c.556T>A c.4268T>A c.3900T>A (p.Asn1300Lys) c.3177T>A (p.Asn1059Lys) c.171T>A (p.Asn57Lys) n.3638T>A c.2715T>A (p.Asn905Lys) n.4495T>A n.4478T>A | |
| 12 | g.45852470T>C | CA6526637 | ARID2 | c.4347T>C (p.Asn1449=) c.556T>C c.4268T>C c.3900T>C (p.Asn1300=) c.3177T>C (p.Asn1059=) c.171T>C (p.Asn57=) n.3638T>C c.2715T>C (p.Asn905=) n.4495T>C n.4478T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.45852470T>G | CA384491224 | ARID2 | c.4347T>G (p.Asn1449Lys) c.556T>G c.4268T>G c.3900T>G (p.Asn1300Lys) c.3177T>G (p.Asn1059Lys) c.171T>G (p.Asn57Lys) n.3638T>G c.2715T>G (p.Asn905Lys) n.4495T>G n.4478T>G | gnomAD v4 |
| 12 | g.45852470T= | CA2033475627 | ARID2 | c.4347T= (p.Asn1449=) c.556T= c.4268T= c.3900T= (p.Asn1300=) c.3177T= (p.Asn1059=) c.171T= (p.Asn57=) n.3638T= c.2715T= (p.Asn905=) n.4495T= n.4478T= | |
| 12 | g.45852471G>A | CA384491228 | ARID2 | c.4348G>A (p.Gly1450Arg) c.557G>A c.4269G>A c.3901G>A (p.Gly1301Arg) c.3178G>A (p.Gly1060Arg) c.172G>A (p.Gly58Arg) n.3639G>A c.2716G>A (p.Gly906Arg) n.4496G>A n.4479G>A | dbSNP |
| 12 | g.45852471G>C | CA384491230 | ARID2 | c.4348G>C (p.Gly1450Arg) c.557G>C c.4269G>C c.3901G>C (p.Gly1301Arg) c.3178G>C (p.Gly1060Arg) c.172G>C (p.Gly58Arg) n.3639G>C c.2716G>C (p.Gly906Arg) n.4496G>C n.4479G>C | dbSNP |
| 12 | g.45852471G>T | CA384491231 | ARID2 | c.4348G>T (p.Gly1450Ter) c.557G>T c.4269G>T c.3901G>T (p.Gly1301Ter) c.3178G>T (p.Gly1060Ter) c.172G>T (p.Gly58Ter) n.3639G>T c.2716G>T (p.Gly906Ter) n.4496G>T n.4479G>T | dbSNP |
| 12 | g.45852472G>A | CA6526638 | ARID2 | c.4349G>A (p.Gly1450Glu) c.558G>A c.4270G>A c.3902G>A (p.Gly1301Glu) c.3179G>A (p.Gly1060Glu) c.173G>A (p.Gly58Glu) n.3640G>A c.2717G>A (p.Gly906Glu) n.4497G>A n.4480G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.45852472G>C | CA384491234 | ARID2 | c.4349G>C (p.Gly1450Ala) c.558G>C c.4270G>C c.3902G>C (p.Gly1301Ala) c.3179G>C (p.Gly1060Ala) c.173G>C (p.Gly58Ala) n.3640G>C c.2717G>C (p.Gly906Ala) n.4497G>C n.4480G>C | dbSNP |
| 12 | g.45852472G= | CA2033475628 | ARID2 | c.4349G= (p.Gly1450=) c.558G= c.4270G= c.3902G= (p.Gly1301=) c.3179G= (p.Gly1060=) c.173G= (p.Gly58=) n.3640G= c.2717G= (p.Gly906=) n.4497G= n.4480G= | |
| 12 | g.45852472G>T | CA384491236 | ARID2 | c.4349G>T (p.Gly1450Val) c.558G>T c.4270G>T c.3902G>T (p.Gly1301Val) c.3179G>T (p.Gly1060Val) c.173G>T (p.Gly58Val) n.3640G>T c.2717G>T (p.Gly906Val) n.4497G>T n.4480G>T | dbSNP |
| 12 | g.45852473A>C | CA479693755 | ARID2 | c.4350A>C (p.Gly1450=) c.559A>C c.4271A>C c.3903A>C (p.Gly1301=) c.3180A>C (p.Gly1060=) c.174A>C (p.Gly58=) n.3641A>C c.2718A>C (p.Gly906=) n.4498A>C n.4481A>C | dbSNP |
| 12 | g.45852473A>G | CA479693756 | ARID2 | c.4350A>G (p.Gly1450=) c.559A>G c.4271A>G c.3903A>G (p.Gly1301=) c.3180A>G (p.Gly1060=) c.174A>G (p.Gly58=) n.3641A>G c.2718A>G (p.Gly906=) n.4498A>G n.4481A>G | dbSNP |
| 12 | g.45852473A>T | CA479693757 | ARID2 | c.4350A>T (p.Gly1450=) c.559A>T c.4271A>T c.3903A>T (p.Gly1301=) c.3180A>T (p.Gly1060=) c.174A>T (p.Gly58=) n.3641A>T c.2718A>T (p.Gly906=) n.4498A>T n.4481A>T | dbSNP |
| 12 | g.45852474C>A | CA384491239 | ARID2 | c.4351C>A (p.Pro1451Thr) c.560C>A c.4272C>A c.3904C>A (p.Pro1302Thr) c.3181C>A (p.Pro1061Thr) c.175C>A (p.Pro59Thr) n.3642C>A c.2719C>A (p.Pro907Thr) n.4499C>A n.4482C>A | |
| 12 | g.45852474C>G | CA384491241 | ARID2 | c.4351C>G (p.Pro1451Ala) c.560C>G c.4272C>G c.3904C>G (p.Pro1302Ala) c.3181C>G (p.Pro1061Ala) c.175C>G (p.Pro59Ala) n.3642C>G c.2719C>G (p.Pro907Ala) n.4499C>G n.4482C>G | |
| 12 | g.45852474C>T | CA384491243 | ARID2 | c.4351C>T (p.Pro1451Ser) c.560C>T c.4272C>T c.3904C>T (p.Pro1302Ser) c.3181C>T (p.Pro1061Ser) c.175C>T (p.Pro59Ser) n.3642C>T c.2719C>T (p.Pro907Ser) n.4499C>T n.4482C>T | dbSNP COSMIC |
| 12 | g.45852475C>A | CA384491246 | ARID2 | c.4352C>A (p.Pro1451His) c.561C>A c.4273C>A c.3905C>A (p.Pro1302His) c.3182C>A (p.Pro1061His) c.176C>A (p.Pro59His) n.3643C>A c.2720C>A (p.Pro907His) n.4500C>A n.4483C>A | dbSNP |
| 12 | g.45852475C= | CA2033475629 | ARID2 | c.4352C= (p.Pro1451=) c.561C= c.4273C= c.3905C= (p.Pro1302=) c.3182C= (p.Pro1061=) c.176C= (p.Pro59=) n.3643C= c.2720C= (p.Pro907=) n.4500C= n.4483C= | |
| 12 | g.45852475C>G | CA384491248 | ARID2 | c.4352C>G (p.Pro1451Arg) c.561C>G c.4273C>G c.3905C>G (p.Pro1302Arg) c.3182C>G (p.Pro1061Arg) c.176C>G (p.Pro59Arg) n.3643C>G c.2720C>G (p.Pro907Arg) n.4500C>G n.4483C>G | dbSNP gnomAD v4 |
| 12 | g.45852475C>T | CA384491250 | ARID2 | c.4352C>T (p.Pro1451Leu) c.561C>T c.4273C>T c.3905C>T (p.Pro1302Leu) c.3182C>T (p.Pro1061Leu) c.176C>T (p.Pro59Leu) n.3643C>T c.2720C>T (p.Pro907Leu) n.4500C>T n.4483C>T | dbSNP gnomAD v4 |
| 12 | g.45852476T>A | CA479693758 | ARID2 | c.4353T>A (p.Pro1451=) c.562T>A c.4274T>A c.3906T>A (p.Pro1302=) c.3183T>A (p.Pro1061=) c.177T>A (p.Pro59=) n.3644T>A c.2721T>A (p.Pro907=) n.4501T>A n.4484T>A | dbSNP |
| 12 | g.45852476T>C | CA479693760 | ARID2 | c.4353T>C (p.Pro1451=) c.562T>C c.4274T>C c.3906T>C (p.Pro1302=) c.3183T>C (p.Pro1061=) c.177T>C (p.Pro59=) n.3644T>C c.2721T>C (p.Pro907=) n.4501T>C n.4484T>C | dbSNP |
| 12 | g.45852476T>G | CA479693759 | ARID2 | c.4353T>G (p.Pro1451=) c.562T>G c.4274T>G c.3906T>G (p.Pro1302=) c.3183T>G (p.Pro1061=) c.177T>G (p.Pro59=) n.3644T>G c.2721T>G (p.Pro907=) n.4501T>G n.4484T>G | |
| 12 | g.45852477C>A | CA384491257 | ARID2 | c.4354C>A (p.Leu1452Ile) c.563C>A c.4275C>A c.3907C>A (p.Leu1303Ile) c.3184C>A (p.Leu1062Ile) c.178C>A (p.Leu60Ile) n.3645C>A c.2722C>A (p.Leu908Ile) n.4502C>A n.4485C>A | dbSNP |
| 12 | g.45852477C= | CA2033475630 | ARID2 | c.4354C= (p.Leu1452=) c.563C= c.4275C= c.3907C= (p.Leu1303=) c.3184C= (p.Leu1062=) c.178C= (p.Leu60=) n.3645C= c.2722C= (p.Leu908=) n.4502C= n.4485C= | |
| 12 | g.45852477C>G | CA384491253 | ARID2 | c.4354C>G (p.Leu1452Val) c.563C>G c.4275C>G c.3907C>G (p.Leu1303Val) c.3184C>G (p.Leu1062Val) c.178C>G (p.Leu60Val) n.3645C>G c.2722C>G (p.Leu908Val) n.4502C>G n.4485C>G | dbSNP |
| 12 | g.45852477C>T | CA6526639 | ARID2 | c.4354C>T (p.Leu1452=) c.563C>T c.4275C>T c.3907C>T (p.Leu1303=) c.3184C>T (p.Leu1062=) c.178C>T (p.Leu60=) n.3645C>T c.2722C>T (p.Leu908=) n.4502C>T n.4485C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |