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.45852563_45852564delinsAC | CA2033475670 | ARID2 | c.4440_4441delinsAC (p.Gly1480=) c.649_650delinsAC c.4361_4362delinsAC c.3993_3994delinsAC (p.Gly1331=) c.3270_3271delinsAC (p.Gly1090=) c.264_265delinsAC (p.Gly88=) n.3731_3732delinsAC c.2808_2809delinsAC (p.Gly936=) n.4588_4589delinsAC n.4571_4572delinsAC | |
| 12 | g.45852564del | CA319652 | ARID2 | c.4441del (p.His1481IlefsTer4) c.650del c.4362del c.3994del (p.His1332IlefsTer4) c.3271del (p.His1091IlefsTer4) c.265del (p.His89IlefsTer4) n.3732del c.2809del (p.His937IlefsTer4) n.4589del n.4572del | ClinVar dbSNP |
| 12 | g.45852564C>A | CA384491692 | ARID2 | c.4441C>A (p.His1481Asn) c.650C>A c.4362C>A c.3994C>A (p.His1332Asn) c.3271C>A (p.His1091Asn) c.265C>A (p.His89Asn) n.3732C>A c.2809C>A (p.His937Asn) n.4589C>A n.4572C>A | |
| 12 | g.45852564C= | CA2033475672 | ARID2 | c.4441C= (p.His1481=) c.650C= c.4362C= c.3994C= (p.His1332=) c.3271C= (p.His1091=) c.265C= (p.His89=) n.3732C= c.2809C= (p.His937=) n.4589C= n.4572C= | |
| 12 | g.45852564C>G | CA384491694 | ARID2 | c.4441C>G (p.His1481Asp) c.650C>G c.4362C>G c.3994C>G (p.His1332Asp) c.3271C>G (p.His1091Asp) c.265C>G (p.His89Asp) n.3732C>G c.2809C>G (p.His937Asp) n.4589C>G n.4572C>G | dbSNP |
| 12 | g.45852564C>T | CA6526660 | ARID2 | c.4441C>T (p.His1481Tyr) c.650C>T c.4362C>T c.3994C>T (p.His1332Tyr) c.3271C>T (p.His1091Tyr) c.265C>T (p.His89Tyr) n.3732C>T c.2809C>T (p.His937Tyr) n.4589C>T n.4572C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.45852565A= | CA2033475673 | ARID2 | c.4442A= (p.His1481=) c.651A= c.4363A= c.3995A= (p.His1332=) c.3272A= (p.His1091=) c.266A= (p.His89=) n.3733A= c.2810A= (p.His937=) n.4590A= n.4573A= | |
| 12 | g.45852565A>C | CA6526661 | ARID2 | c.4442A>C (p.His1481Pro) c.651A>C c.4363A>C c.3995A>C (p.His1332Pro) c.3272A>C (p.His1091Pro) c.266A>C (p.His89Pro) n.3733A>C c.2810A>C (p.His937Pro) n.4590A>C n.4573A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.45852565A>G | CA236400732 | ARID2 | c.4442A>G (p.His1481Arg) c.651A>G c.4363A>G c.3995A>G (p.His1332Arg) c.3272A>G (p.His1091Arg) c.266A>G (p.His89Arg) n.3733A>G c.2810A>G (p.His937Arg) n.4590A>G n.4573A>G | dbSNP gnomAD v4 |
| 12 | g.45852565A>T | CA384491703 | ARID2 | c.4442A>T (p.His1481Leu) c.651A>T c.4363A>T c.3995A>T (p.His1332Leu) c.3272A>T (p.His1091Leu) c.266A>T (p.His89Leu) n.3733A>T c.2810A>T (p.His937Leu) n.4590A>T n.4573A>T | dbSNP |
| 12 | g.45852566T>A | CA384491708 | ARID2 | c.4443T>A (p.His1481Gln) c.652T>A c.4364T>A c.3996T>A (p.His1332Gln) c.3273T>A (p.His1091Gln) c.267T>A (p.His89Gln) n.3734T>A c.2811T>A (p.His937Gln) n.4591T>A n.4574T>A | dbSNP |
| 12 | g.45852566T>C | CA479693825 | ARID2 | c.4443T>C (p.His1481=) c.652T>C c.4364T>C c.3996T>C (p.His1332=) c.3273T>C (p.His1091=) c.267T>C (p.His89=) n.3734T>C c.2811T>C (p.His937=) n.4591T>C n.4574T>C | dbSNP |
| 12 | g.45852566T>G | CA384491710 | ARID2 | c.4443T>G (p.His1481Gln) c.652T>G c.4364T>G c.3996T>G (p.His1332Gln) c.3273T>G (p.His1091Gln) c.267T>G (p.His89Gln) n.3734T>G c.2811T>G (p.His937Gln) n.4591T>G n.4574T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.45852566T= | CA2033475674 | ARID2 | c.4443T= (p.His1481=) c.652T= c.4364T= c.3996T= (p.His1332=) c.3273T= (p.His1091=) c.267T= (p.His89=) n.3734T= c.2811T= (p.His937=) n.4591T= n.4574T= | |
| 12 | g.45852567C>A | CA384491716 | ARID2 | c.4444C>A (p.Gln1482Lys) c.653C>A c.4365C>A c.3997C>A (p.Gln1333Lys) c.3274C>A (p.Gln1092Lys) c.268C>A (p.Gln90Lys) n.3735C>A c.2812C>A (p.Gln938Lys) n.4592C>A n.4575C>A | dbSNP |
| 12 | g.45852567C= | CA2033475675 | ARID2 | c.4444C= (p.Gln1482=) c.653C= c.4365C= c.3997C= (p.Gln1333=) c.3274C= (p.Gln1092=) c.268C= (p.Gln90=) n.3735C= c.2812C= (p.Gln938=) n.4592C= n.4575C= | |
| 12 | g.45852567C>G | CA384491714 | ARID2 | c.4444C>G (p.Gln1482Glu) c.653C>G c.4365C>G c.3997C>G (p.Gln1333Glu) c.3274C>G (p.Gln1092Glu) c.268C>G (p.Gln90Glu) n.3735C>G c.2812C>G (p.Gln938Glu) n.4592C>G n.4575C>G | dbSNP |
| 12 | g.45852567C>T | CA384491712 | ARID2 | c.4444C>T (p.Gln1482Ter) c.653C>T c.4365C>T c.3997C>T (p.Gln1333Ter) c.3274C>T (p.Gln1092Ter) c.268C>T (p.Gln90Ter) n.3735C>T c.2812C>T (p.Gln938Ter) n.4592C>T n.4575C>T | dbSNP gnomAD v2 COSMIC |
| 12 | g.45852568A= | CA2033475676 | ARID2 | c.4445A= (p.Gln1482=) c.654A= c.4366A= c.3998A= (p.Gln1333=) c.3275A= (p.Gln1092=) c.269A= (p.Gln90=) n.3736A= c.2813A= (p.Gln938=) n.4593A= n.4576A= | |
| 12 | g.45852568A>C | CA384491720 | ARID2 | c.4445A>C (p.Gln1482Pro) c.654A>C c.4366A>C c.3998A>C (p.Gln1333Pro) c.3275A>C (p.Gln1092Pro) c.269A>C (p.Gln90Pro) n.3736A>C c.2813A>C (p.Gln938Pro) n.4593A>C n.4576A>C | |
| 12 | g.45852568A>G | CA384491722 | ARID2 | c.4445A>G (p.Gln1482Arg) c.654A>G c.4366A>G c.3998A>G (p.Gln1333Arg) c.3275A>G (p.Gln1092Arg) c.269A>G (p.Gln90Arg) n.3736A>G c.2813A>G (p.Gln938Arg) n.4593A>G n.4576A>G | dbSNP |
| 12 | g.45852568A>T | CA384491724 | ARID2 | c.4445A>T (p.Gln1482Leu) c.654A>T c.4366A>T c.3998A>T (p.Gln1333Leu) c.3275A>T (p.Gln1092Leu) c.269A>T (p.Gln90Leu) n.3736A>T c.2813A>T (p.Gln938Leu) n.4593A>T n.4576A>T | dbSNP |
| 12 | g.45852568_45852569insG | CA604811920 | ARID2 | c.4445_4446insG (p.Ile1483AsnfsTer20) c.654_655insG c.4366_4367insG c.3998_3999insG (p.Ile1334AsnfsTer20) c.3275_3276insG (p.Ile1093AsnfsTer20) c.269_270insG (p.Ile91AsnfsTer20) n.3736_3737insG c.2813_2814insG (p.Ile939AsnfsTer20) n.4593_4594insG n.4576_4577insG | dbSNP gnomAD v2 |
| 12 | g.45852569A= | CA2033475677 | ARID2 | c.4446A= (p.Gln1482=) c.655A= c.4367A= c.3999A= (p.Gln1333=) c.3276A= (p.Gln1092=) c.270A= (p.Gln90=) n.3737A= c.2814A= (p.Gln938=) n.4594A= n.4577A= | |
| 12 | g.45852569A>C | CA384491726 | ARID2 | c.4446A>C (p.Gln1482His) c.655A>C c.4367A>C c.3999A>C (p.Gln1333His) c.3276A>C (p.Gln1092His) c.270A>C (p.Gln90His) n.3737A>C c.2814A>C (p.Gln938His) n.4594A>C n.4577A>C | COSMIC |
| 12 | g.45852569A>G | CA479693826 | ARID2 | c.4446A>G (p.Gln1482=) c.655A>G c.4367A>G c.3999A>G (p.Gln1333=) c.3276A>G (p.Gln1092=) c.270A>G (p.Gln90=) n.3737A>G c.2814A>G (p.Gln938=) n.4594A>G n.4577A>G | dbSNP gnomAD v4 |
| 12 | g.45852569A>T | CA384491728 | ARID2 | c.4446A>T (p.Gln1482His) c.655A>T c.4367A>T c.3999A>T (p.Gln1333His) c.3276A>T (p.Gln1092His) c.270A>T (p.Gln90His) n.3737A>T c.2814A>T (p.Gln938His) n.4594A>T n.4577A>T | dbSNP |
| 12 | g.45852570A= | CA2033475678 | ARID2 | c.4447A= (p.Ile1483=) c.656A= c.4368A= c.4000A= (p.Ile1334=) c.3277A= (p.Ile1093=) c.271A= (p.Ile91=) n.3738A= c.2815A= (p.Ile939=) n.4595A= n.4578A= | |
| 12 | g.45852570A>C | CA384491733 | ARID2 | c.4447A>C (p.Ile1483Leu) c.656A>C c.4368A>C c.4000A>C (p.Ile1334Leu) c.3277A>C (p.Ile1093Leu) c.271A>C (p.Ile91Leu) n.3738A>C c.2815A>C (p.Ile939Leu) n.4595A>C n.4578A>C | |
| 12 | g.45852570A>G | CA384491734 | ARID2 | c.4447A>G (p.Ile1483Val) c.656A>G c.4368A>G c.4000A>G (p.Ile1334Val) c.3277A>G (p.Ile1093Val) c.271A>G (p.Ile91Val) n.3738A>G c.2815A>G (p.Ile939Val) n.4595A>G n.4578A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.45852570A>T | CA384491736 | ARID2 | c.4447A>T (p.Ile1483Phe) c.656A>T c.4368A>T c.4000A>T (p.Ile1334Phe) c.3277A>T (p.Ile1093Phe) c.271A>T (p.Ile91Phe) n.3738A>T c.2815A>T (p.Ile939Phe) n.4595A>T n.4578A>T | dbSNP |
| 12 | g.45852570_45852571insATTCTTTCTAGTTGA | CA604811921 | ARID2 | c.4447_4448insATTCTTTCTAGTTGA (p.Ile1483AsnfsTer4) c.656_657insATTCTTTCTAGTTGA c.4368_4369insATTCTTTCTAGTTGA c.4000_4001insATTCTTTCTAGTTGA (p.Ile1334AsnfsTer4) c.3277_3278insATTCTTTCTAGTTGA (p.Ile1093AsnfsTer4) c.271_272insATTCTTTCTAGTTGA (p.Ile91AsnfsTer4) n.3738_3739insATTCTTTCTAGTTGA c.2815_2816insATTCTTTCTAGTTGA (p.Ile939AsnfsTer4) n.4595_4596insATTCTTTCTAGTTGA n.4578_4579insATTCTTTCTAGTTGA | dbSNP gnomAD v2 |
| 12 | g.45852570_45852571insATTCTT | CA2033475679 | ARID2 | c.4447_4448insATTCTT (p.Ile1483delinsAsnSerPhe) c.656_657insATTCTT c.4368_4369insATTCTT c.4000_4001insATTCTT (p.Ile1334delinsAsnSerPhe) c.3277_3278insATTCTT (p.Ile1093delinsAsnSerPhe) c.271_272insATTCTT (p.Ile91delinsAsnSerPhe) n.3738_3739insATTCTT c.2815_2816insATTCTT (p.Ile939delinsAsnSerPhe) n.4595_4596insATTCTT n.4578_4579insATTCTT | dbSNP |
| 12 | g.45852571T>A | CA384491739 | ARID2 | c.4448T>A (p.Ile1483Asn) c.657T>A c.4369T>A c.4001T>A (p.Ile1334Asn) c.3278T>A (p.Ile1093Asn) c.272T>A (p.Ile91Asn) n.3739T>A c.2816T>A (p.Ile939Asn) n.4596T>A n.4579T>A | dbSNP |
| 12 | g.45852571T>C | CA6526662 | ARID2 | c.4448T>C (p.Ile1483Thr) c.657T>C c.4369T>C c.4001T>C (p.Ile1334Thr) c.3278T>C (p.Ile1093Thr) c.272T>C (p.Ile91Thr) n.3739T>C c.2816T>C (p.Ile939Thr) n.4596T>C n.4579T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.45852571T>G | CA384491742 | ARID2 | c.4448T>G (p.Ile1483Ser) c.657T>G c.4369T>G c.4001T>G (p.Ile1334Ser) c.3278T>G (p.Ile1093Ser) c.272T>G (p.Ile91Ser) n.3739T>G c.2816T>G (p.Ile939Ser) n.4596T>G n.4579T>G | dbSNP |
| 12 | g.45852571T= | CA2033475680 | ARID2 | c.4448T= (p.Ile1483=) c.657T= c.4369T= c.4001T= (p.Ile1334=) c.3278T= (p.Ile1093=) c.272T= (p.Ile91=) n.3739T= c.2816T= (p.Ile939=) n.4596T= n.4579T= | |
| 12 | g.45852572C>A | CA479693827 | ARID2 | c.4449C>A (p.Ile1483=) c.658C>A c.4370C>A c.4002C>A (p.Ile1334=) c.3279C>A (p.Ile1093=) c.273C>A (p.Ile91=) n.3740C>A c.2817C>A (p.Ile939=) n.4597C>A n.4580C>A | dbSNP |
| 12 | g.45852572C>G | CA384491745 | ARID2 | c.4449C>G (p.Ile1483Met) c.658C>G c.4370C>G c.4002C>G (p.Ile1334Met) c.3279C>G (p.Ile1093Met) c.273C>G (p.Ile91Met) n.3740C>G c.2817C>G (p.Ile939Met) n.4597C>G n.4580C>G | dbSNP |
| 12 | g.45852572C>T | CA479693828 | ARID2 | c.4449C>T (p.Ile1483=) c.658C>T c.4370C>T c.4002C>T (p.Ile1334=) c.3279C>T (p.Ile1093=) c.273C>T (p.Ile91=) n.3740C>T c.2817C>T (p.Ile939=) n.4597C>T n.4580C>T | dbSNP |
| 12 | g.45852573A= | CA2033475681 | ARID2 | c.4450A= (p.Ile1484=) c.659A= c.4371A= c.4003A= (p.Ile1335=) c.3280A= (p.Ile1094=) c.274A= (p.Ile92=) n.3741A= c.2818A= (p.Ile940=) n.4598A= n.4581A= | |
| 12 | g.45852573A>C | CA384491748 | ARID2 | c.4450A>C (p.Ile1484Leu) c.659A>C c.4371A>C c.4003A>C (p.Ile1335Leu) c.3280A>C (p.Ile1094Leu) c.274A>C (p.Ile92Leu) n.3741A>C c.2818A>C (p.Ile940Leu) n.4598A>C n.4581A>C | dbSNP |
| 12 | g.45852573A>G | CA6526664 | ARID2 | c.4450A>G (p.Ile1484Val) c.659A>G c.4371A>G c.4003A>G (p.Ile1335Val) c.3280A>G (p.Ile1094Val) c.274A>G (p.Ile92Val) n.3741A>G c.2818A>G (p.Ile940Val) n.4598A>G n.4581A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.45852573A>T | CA6526663 | ARID2 | c.4450A>T (p.Ile1484Leu) c.659A>T c.4371A>T c.4003A>T (p.Ile1335Leu) c.3280A>T (p.Ile1094Leu) c.274A>T (p.Ile92Leu) n.3741A>T c.2818A>T (p.Ile940Leu) n.4598A>T n.4581A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.45852574T>A | CA236400748 | ARID2 | c.4451T>A (p.Ile1484Lys) c.660T>A c.4372T>A c.4004T>A (p.Ile1335Lys) c.3281T>A (p.Ile1094Lys) c.275T>A (p.Ile92Lys) n.3742T>A c.2819T>A (p.Ile940Lys) n.4599T>A n.4582T>A | dbSNP |
| 12 | g.45852574T>C | CA6526665 | ARID2 | c.4451T>C (p.Ile1484Thr) c.660T>C c.4372T>C c.4004T>C (p.Ile1335Thr) c.3281T>C (p.Ile1094Thr) c.275T>C (p.Ile92Thr) n.3742T>C c.2819T>C (p.Ile940Thr) n.4599T>C n.4582T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.45852574T>G | CA384491755 | ARID2 | c.4451T>G (p.Ile1484Arg) c.660T>G c.4372T>G c.4004T>G (p.Ile1335Arg) c.3281T>G (p.Ile1094Arg) c.275T>G (p.Ile92Arg) n.3742T>G c.2819T>G (p.Ile940Arg) n.4599T>G n.4582T>G | |
| 12 | g.45852574T= | CA2033475682 | ARID2 | c.4451T= (p.Ile1484=) c.660T= c.4372T= c.4004T= (p.Ile1335=) c.3281T= (p.Ile1094=) c.275T= (p.Ile92=) n.3742T= c.2819T= (p.Ile940=) n.4599T= n.4582T= | |
| 12 | g.45852575A>C | CA479693829 | ARID2 | c.4452A>C (p.Ile1484=) c.661A>C c.4373A>C c.4005A>C (p.Ile1335=) c.3282A>C (p.Ile1094=) c.276A>C (p.Ile92=) n.3743A>C c.2820A>C (p.Ile940=) n.4600A>C n.4583A>C | |
| 12 | g.45852575A>G | CA384491759 | ARID2 | c.4452A>G (p.Ile1484Met) c.661A>G c.4373A>G c.4005A>G (p.Ile1335Met) c.3282A>G (p.Ile1094Met) c.276A>G (p.Ile92Met) n.3743A>G c.2820A>G (p.Ile940Met) n.4600A>G n.4583A>G | dbSNP gnomAD v4 |