Linked Data
dbSNP Id:
rs1276158569
gnomAD v2:
2-204272062-C-T
gnomAD v3:
2-203407339-C-T
gnomAD v4:
2-203407339-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203407339C>T , CM000664.2:g.203407339C>T | GRCh38 |
| NC_000002.11:g.204272062C>T , CM000664.1:g.204272062C>T | GRCh37 |
| NC_000002.10:g.203980307C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261016.11:c.1246+4605C>T (ABI2) | ENSP00000261016.8:n.1246+4605C>T | |
| ENST00000261018.12:c.1193-3946C>T (ABI2) MANE Select | ENSP00000261018.9:n.1193-3946C>T | |
| ENST00000295851.10:c.1192+4605C>T (ABI2) | ENSP00000295851.4:n.1192+4605C>T | |
| ENST00000261016.10:c.823+4605C>T (ABI2) | ENSP00000261016.7:n.823+4605C>T | |
| ENST00000261017.9:c.992-3946C>T (ABI2) | ENSP00000261017.5:n.992-3946C>T | |
| ENST00000261018.11:c.1192+4605C>T (ABI2) | ENSP00000261018.8:n.1192+4605C>T | |
| ENST00000295851.9:c.1192+4605C>T (ABI2) | ENSP00000295851.4:n.1192+4605C>T | |
| ENST00000416001.5:c.*132+4605C>T (ABI2) | ENSP00000405801.1:n.*132+4605C>T | |
| ENST00000416396.5:n.259-3946C>T (ABI2) | ||
| ENST00000417864.5:c.1192+4605C>T (ABI2) | ENSP00000414703.1:n.1192+4605C>T | |
| ENST00000422511.6:c.1093+4605C>T (ABI2) | ENSP00000396249.2:n.1093+4605C>T | |
| ENST00000422719.5:n.409+4605C>T (ABI2) | ||
| ENST00000424558.5:c.1174+4605C>T (ABI2) | ENSP00000391433.1:n.1174+4605C>T | |
| ENST00000430418.5:c.1027+4605C>T (ABI2) | ENSP00000408898.1:n.1027+4605C>T | |
| ENST00000430574.5:n.684+3978C>T (ABI2) | ||
| ENST00000441061.5:c.904+4605C>T (ABI2) | ||
| ENST00000454023.1:c.531+4605C>T (ABI2) | ||
| ENST00000457812.5:c.1777-12250G>A (RAPH1) | ENSP00000392854.1:n.1777-12250G>A | |
| ENST00000464761.1:n.30-3946C>T (ABI2) | ||
| NM_001282925.1:c.1192+4605C>T (ABI2) | NP_001269854.1:n.1192+4605C>T | |
| NM_001282926.1:c.1174+4605C>T (ABI2) | NP_001269855.1:n.1174+4605C>T | |
| NM_001282927.1:c.856+4605C>T (ABI2) | NP_001269856.1:n.856+4605C>T | |
| NM_001282932.1:c.823+4605C>T (ABI2) | NP_001269861.1:n.823+4605C>T | |
| NM_005759.5:c.992-3946C>T (ABI2) | NP_005750.4:n.992-3946C>T | |
| XM_005246217.1:c.1193-3946C>T (ABI2) | XP_005246274.1:n.1193-3946C>T | |
| XM_005246218.1:c.1175-3946C>T (ABI2) | XP_005246275.1:n.1175-3946C>T | |
| XM_005246221.1:c.1028-3946C>T (ABI2) | XP_005246278.1:n.1028-3946C>T | |
| XM_005246222.1:c.1025-3946C>T (ABI2) | XP_005246279.1:n.1025-3946C>T | |
| XM_005246225.1:c.1027+4605C>T (ABI2) | XP_005246282.1:n.1027+4605C>T | |
| XM_005246226.1:c.991+4605C>T (ABI2) | XP_005246283.1:n.991+4605C>T | |
| XM_006712174.1:c.1193-3946C>T (ABI2) | XP_006712237.1:n.1193-3946C>T | |
| XM_006712177.1:c.1058-3946C>T (ABI2) | XP_006712240.1:n.1058-3946C>T | |
| XM_006712178.1:c.1058-3946C>T (ABI2) | XP_006712241.1:n.1058-3946C>T | |
| XM_006712179.1:c.1046-3946C>T (ABI2) | XP_006712242.1:n.1046-3946C>T | |
| XM_006712180.1:c.1010-3946C>T (ABI2) | XP_006712243.1:n.1010-3946C>T | |
| XM_006712181.1:c.1009+4605C>T (ABI2) | XP_006712244.1:n.1009+4605C>T | |
| XM_006712182.1:c.1006+4605C>T (ABI2) | XP_006712245.1:n.1006+4605C>T | |
| XM_006712183.2:c.1193-545C>T (ABI2) | XP_006712246.1:n.1193-545C>T | |
| XM_006712185.1:c.856+4605C>T (ABI2) | XP_006712248.1:n.856+4605C>T | |
| XM_006712186.1:c.844+4605C>T (ABI2) | XP_006712249.1:n.844+4605C>T | |
| XM_011510472.1:c.1043-3946C>T (ABI2) | XP_011508774.1:n.1043-3946C>T | |
| XM_011510473.1:c.764-3946C>T (ABI2) | XP_011508775.1:n.764-3946C>T | |
| XM_011510474.1:c.764-3946C>T (ABI2) | XP_011508776.1:n.764-3946C>T | |
| XM_005246217.2:c.1193-3946C>T (ABI2) | XP_005246274.1:n.1193-3946C>T | |
| XM_005246218.3:c.1175-3946C>T (ABI2) | XP_005246275.1:n.1175-3946C>T | |
| XM_005246221.3:c.1028-3946C>T (ABI2) | XP_005246278.1:n.1028-3946C>T | |
| XM_005246225.3:c.1027+4605C>T (ABI2) | XP_005246282.1:n.1027+4605C>T | |
| XM_005246226.2:c.991+4605C>T (ABI2) | XP_005246283.1:n.991+4605C>T | |
| XM_006712174.3:c.1193-3946C>T (ABI2) | XP_006712237.1:n.1193-3946C>T | |
| XM_006712177.3:c.1058-3946C>T (ABI2) | XP_006712240.1:n.1058-3946C>T | |
| XM_006712179.2:c.1046-3946C>T (ABI2) | XP_006712242.1:n.1046-3946C>T | |
| XM_006712180.3:c.1010-3946C>T (ABI2) | XP_006712243.1:n.1010-3946C>T | |
| XM_006712181.3:c.1009+4605C>T (ABI2) | XP_006712244.1:n.1009+4605C>T | |
| XM_006712182.3:c.1006+4605C>T (ABI2) | XP_006712245.1:n.1006+4605C>T | |
| XM_006712186.3:c.844+4605C>T (ABI2) | XP_006712249.1:n.844+4605C>T | |
| XM_011510472.2:c.1043-3946C>T (ABI2) | XP_011508774.1:n.1043-3946C>T | |
| XM_011510473.3:c.764-3946C>T (ABI2) | XP_011508775.1:n.764-3946C>T | |
| XM_017003118.1:c.1190-3946C>T (ABI2) | XP_016858607.1:n.1190-3946C>T | |
| XM_017003119.2:c.1193-3946C>T (ABI2) | XP_016858608.1:n.1193-3946C>T | |
| XM_017003120.2:c.1190-3946C>T (ABI2) | XP_016858609.1:n.1190-3946C>T | |
| XM_017003121.1:c.1189+4605C>T (ABI2) | XP_016858610.1:n.1189+4605C>T | |
| XM_017003122.1:c.1046-3946C>T (ABI2) | XP_016858611.1:n.1046-3946C>T | |
| XM_017003123.2:c.1025-3946C>T (ABI2) | XP_016858612.1:n.1025-3946C>T | |
| XM_017003124.2:c.992-3946C>T (ABI2) | XP_016858613.1:n.992-3946C>T | |
| XM_017003125.2:c.989-3946C>T (ABI2) | XP_016858614.1:n.989-3946C>T | |
| XM_017003126.1:c.992-3946C>T (ABI2) | XP_016858615.1:n.992-3946C>T | |
| XM_017003127.1:c.989-3946C>T (ABI2) | XP_016858616.1:n.989-3946C>T | |
| XM_017003128.1:c.1057+4605C>T (ABI2) | XP_016858617.1:n.1057+4605C>T | |
| XM_017003129.1:c.1045+4605C>T (ABI2) | XP_016858618.1:n.1045+4605C>T | |
| XM_017003130.1:c.1042+4605C>T (ABI2) | XP_016858619.1:n.1042+4605C>T | |
| XM_017003131.2:c.1024+4605C>T (ABI2) | XP_016858620.1:n.1024+4605C>T | |
| XM_017003132.2:c.1009+4605C>T (ABI2) | XP_016858621.1:n.1009+4605C>T | |
| XM_017003133.2:c.911-3946C>T (ABI2) | XP_016858622.1:n.911-3946C>T | |
| XM_017003134.2:c.991+4605C>T (ABI2) | XP_016858623.1:n.991+4605C>T | |
| XM_017003135.1:c.988+4605C>T (ABI2) | XP_016858624.1:n.988+4605C>T | |
| XM_017003136.1:c.988+4605C>T (ABI2) | XP_016858625.1:n.988+4605C>T | |
| XM_017003137.2:c.872-3946C>T (ABI2) | XP_016858626.1:n.872-3946C>T | |
| XM_017003138.2:c.860-3946C>T (ABI2) | XP_016858627.1:n.860-3946C>T | |
| XM_017003139.2:c.857-3946C>T (ABI2) | XP_016858628.1:n.857-3946C>T | |
| XM_017003140.2:c.854-3946C>T (ABI2) | XP_016858629.1:n.854-3946C>T | |
| XM_017003141.1:c.845-3946C>T (ABI2) | XP_016858630.1:n.845-3946C>T | |
| XM_017003142.2:c.842-3946C>T (ABI2) | XP_016858631.1:n.842-3946C>T | |
| XM_017003143.1:c.907+4605C>T (ABI2) | XP_016858632.1:n.907+4605C>T | |
| XM_017003144.2:c.862+4605C>T (ABI2) | XP_016858633.1:n.862+4605C>T | |
| XM_017003145.1:c.841+4605C>T (ABI2) | XP_016858634.1:n.841+4605C>T | |
| XM_017003146.1:c.844+4605C>T (ABI2) | XP_016858635.1:n.844+4605C>T | |
| XM_024452511.1:c.1058-3946C>T (ABI2) | XP_024308279.1:n.1058-3946C>T | |
| XR_001738583.1:n.1834-545C>T (ABI2) | ||
| XR_001738584.2:n.1834-545C>T (ABI2) | ||
| NM_001282925.2:c.1192+4605C>T (ABI2) | NP_001269854.1:n.1192+4605C>T | |
| NM_001282925.3:c.1192+4605C>T (ABI2) | NP_001269854.1:n.1192+4605C>T | |
| NM_001282926.3:c.1174+4605C>T (ABI2) | NP_001269855.1:n.1174+4605C>T | |
| NM_001282927.2:c.856+4605C>T (ABI2) | NP_001269856.1:n.856+4605C>T | |
| NM_001282932.2:c.823+4605C>T (ABI2) | NP_001269861.1:n.823+4605C>T | |
| NM_001375662.1:c.971-3946C>T (ABI2) | NP_001362591.1:n.971-3946C>T | |
| NM_001375663.1:c.971-3946C>T (ABI2) | NP_001362592.1:n.971-3946C>T | |
| NM_001375664.1:c.823+4605C>T (ABI2) | NP_001362593.1:n.823+4605C>T | |
| NM_001375665.1:c.823+4605C>T (ABI2) | NP_001362594.1:n.823+4605C>T | |
| NM_001375666.1:c.769+4605C>T (ABI2) | NP_001362595.1:n.769+4605C>T | |
| NM_001375667.1:c.769+4605C>T (ABI2) | NP_001362596.1:n.769+4605C>T | |
| NM_001375668.1:c.623-3946C>T (ABI2) | NP_001362597.1:n.623-3946C>T | |
| NM_001375669.1:c.623-3946C>T (ABI2) | NP_001362598.1:n.623-3946C>T | |
| NM_001375670.1:c.1193-3946C>T (ABI2) MANE Select | NP_001362599.1:n.1193-3946C>T | |
| NM_001375671.1:c.1190-3946C>T (ABI2) | NP_001362600.1:n.1190-3946C>T | |
| NM_001375672.1:c.1193-3946C>T (ABI2) | NP_001362601.1:n.1193-3946C>T | |
| NM_001375673.1:c.1193-3946C>T (ABI2) | NP_001362602.1:n.1193-3946C>T | |
| NM_001375674.1:c.1190-3946C>T (ABI2) | NP_001362603.1:n.1190-3946C>T | |
| NM_001375675.1:c.1175-3946C>T (ABI2) | NP_001362604.1:n.1175-3946C>T | |
| NM_001375676.1:c.1193-545C>T (ABI2) | NP_001362605.1:n.1193-545C>T | |
| NM_001375677.1:c.1189+4605C>T (ABI2) | NP_001362606.1:n.1189+4605C>T | |
| NM_001375678.1:c.1091-3946C>T (ABI2) | NP_001362607.1:n.1091-3946C>T | |
| NM_001375679.1:c.1058-3946C>T (ABI2) | NP_001362608.1:n.1058-3946C>T | |
| NM_001375680.1:c.1046-3946C>T (ABI2) | NP_001362609.1:n.1046-3946C>T | |
| NM_001375681.1:c.1043-3946C>T (ABI2) | NP_001362610.1:n.1043-3946C>T | |
| NM_001375682.1:c.1046-3946C>T (ABI2) | NP_001362611.1:n.1046-3946C>T | |
| NM_001375683.1:c.1028-3946C>T (ABI2) | NP_001362612.1:n.1028-3946C>T | |
| NM_001375684.1:c.1025-3946C>T (ABI2) | NP_001362613.1:n.1025-3946C>T | |
| NM_001375685.1:c.1090+3978C>T (ABI2) | NP_001362614.1:n.1090+3978C>T | |
| NM_001375686.1:c.992-3946C>T (ABI2) | NP_001362615.1:n.992-3946C>T | |
| NM_001375687.1:c.989-3946C>T (ABI2) | NP_001362616.1:n.989-3946C>T | |
| NM_001375688.1:c.992-3946C>T (ABI2) | NP_001362617.1:n.992-3946C>T | |
| NM_001375689.1:c.989-3946C>T (ABI2) | NP_001362618.1:n.989-3946C>T | |
| NM_001375690.1:c.989-3946C>T (ABI2) | NP_001362619.1:n.989-3946C>T | |
| NM_001375691.1:c.1057+4605C>T (ABI2) | NP_001362620.1:n.1057+4605C>T | |
| NM_001375692.1:c.1045+4605C>T (ABI2) | NP_001362621.1:n.1045+4605C>T | |
| NM_001375693.1:c.1042+4605C>T (ABI2) | NP_001362622.1:n.1042+4605C>T | |
| NM_001375695.1:c.953-3946C>T (ABI2) | NP_001362624.1:n.953-3946C>T | |
| NM_001375696.1:c.1036+3978C>T (ABI2) | NP_001362625.1:n.1036+3978C>T | |
| NM_001375698.1:c.1027+4605C>T (ABI2) | NP_001362627.1:n.1027+4605C>T | |
| NM_001375699.1:c.1024+4605C>T (ABI2) | NP_001362628.1:n.1024+4605C>T | |
| NM_001375702.1:c.1024+4605C>T (ABI2) | NP_001362631.1:n.1024+4605C>T | |
| NM_001375704.1:c.992-3946C>T (ABI2) | NP_001362633.1:n.992-3946C>T | |
| NM_001375706.1:c.991+4605C>T (ABI2) | NP_001362635.1:n.991+4605C>T | |
| NM_001375707.1:c.988+4605C>T (ABI2) | NP_001362636.1:n.988+4605C>T | |
| NM_001375708.1:c.991+4605C>T (ABI2) | NP_001362637.1:n.991+4605C>T | |
| NM_001375709.1:c.988+4605C>T (ABI2) | NP_001362638.1:n.988+4605C>T | |
| NM_001375710.1:c.991+4605C>T (ABI2) | NP_001362639.1:n.991+4605C>T | |
| NM_001375711.1:c.970+4605C>T (ABI2) | NP_001362640.1:n.970+4605C>T | |
| NM_001375712.1:c.1045+4605C>T (ABI2) | NP_001362641.1:n.1045+4605C>T | |
| NM_001375714.1:c.878-3946C>T (ABI2) | NP_001362643.1:n.878-3946C>T | |
| NM_001375717.1:c.872-3946C>T (ABI2) | NP_001362646.1:n.872-3946C>T | |
| NM_001375719.1:c.955+4605C>T (ABI2) | NP_001362648.1:n.955+4605C>T | |
| NM_001375721.1:c.857-3946C>T (ABI2) | NP_001362650.1:n.857-3946C>T | |
| NM_001375722.1:c.854-3946C>T (ABI2) | NP_001362651.1:n.854-3946C>T | |
| NM_001375723.1:c.845-3946C>T (ABI2) | NP_001362652.1:n.845-3946C>T | |
| NM_001375724.1:c.842-3946C>T (ABI2) | NP_001362653.1:n.842-3946C>T | |
| NM_001375725.1:c.845-3946C>T (ABI2) | NP_001362654.1:n.845-3946C>T | |
| NM_001375726.1:c.842-3946C>T (ABI2) | NP_001362655.1:n.842-3946C>T | |
| NM_001375727.1:c.824-3946C>T (ABI2) | NP_001362656.1:n.824-3946C>T | |
| NM_001375728.1:c.824-3946C>T (ABI2) | NP_001362657.1:n.824-3946C>T | |
| NM_001375729.1:c.821-3946C>T (ABI2) | NP_001362658.1:n.821-3946C>T | |
| NM_001375730.1:c.821-3946C>T (ABI2) | NP_001362659.1:n.821-3946C>T | |
| NM_001375731.1:c.824-3946C>T (ABI2) | NP_001362660.1:n.824-3946C>T | |
| NM_001375732.1:c.877+4605C>T (ABI2) | NP_001362661.1:n.877+4605C>T | |
| NM_001375733.1:c.859+4605C>T (ABI2) | NP_001362662.1:n.859+4605C>T | |
| NM_001375734.1:c.770-3946C>T (ABI2) | NP_001362663.1:n.770-3946C>T | |
| NM_001375735.1:c.770-3946C>T (ABI2) | NP_001362664.1:n.770-3946C>T | |
| NM_001375736.1:c.850+4605C>T (ABI2) | NP_001362665.1:n.850+4605C>T | |
| NM_001375737.1:c.842-3946C>T (ABI2) | NP_001362666.1:n.842-3946C>T | |
| NM_001375738.1:c.844+4605C>T (ABI2) | NP_001362667.1:n.844+4605C>T | |
| NM_001375739.1:c.841+4605C>T (ABI2) | NP_001362668.1:n.841+4605C>T | |
| NM_001375740.1:c.844+4605C>T (ABI2) | NP_001362669.1:n.844+4605C>T | |
| NM_001375741.1:c.823+4605C>T (ABI2) | NP_001362670.1:n.823+4605C>T | |
| NM_001375742.1:c.820+4605C>T (ABI2) | NP_001362671.1:n.820+4605C>T | |
| NM_001375743.1:c.823+4605C>T (ABI2) | NP_001362672.1:n.823+4605C>T | |
| NM_001375744.1:c.814+4605C>T (ABI2) | NP_001362673.1:n.814+4605C>T | |
| NM_001375745.1:c.820+4605C>T (ABI2) | NP_001362674.1:n.820+4605C>T | |
| NM_001375746.1:c.811+4605C>T (ABI2) | NP_001362675.1:n.811+4605C>T | |
| NM_001375747.1:c.707-3946C>T (ABI2) | NP_001362676.1:n.707-3946C>T | |
| NM_001375748.1:c.769+4605C>T (ABI2) | NP_001362677.1:n.769+4605C>T | |
| NM_001375749.1:c.668-3946C>T (ABI2) | NP_001362678.1:n.668-3946C>T | |
| NM_001375750.1:c.823+4605C>T (ABI2) | NP_001362679.1:n.823+4605C>T | |
| NM_001375751.1:c.620-3946C>T (ABI2) | NP_001362680.1:n.620-3946C>T | |
| NM_001375752.1:c.676+4605C>T (ABI2) | NP_001362681.1:n.676+4605C>T | |
| NM_001375753.1:c.622+4605C>T (ABI2) | NP_001362682.1:n.622+4605C>T | |
| NM_001375754.1:c.856+4605C>T (ABI2) | NP_001362683.1:n.856+4605C>T | |
| NM_001375755.1:c.844+4605C>T (ABI2) | NP_001362684.1:n.844+4605C>T | |
| NM_005759.7:c.992-3946C>T (ABI2) | NP_005750.4:n.992-3946C>T | |
| NR_164704.1:n.517+4605C>T (ABI2) | ||
| NR_164705.1:n.1199-3946C>T (ABI2) | ||
| NR_164706.1:n.840+4605C>T (ABI2) | ||
| NR_164707.1:n.1392+4605C>T (ABI2) | ||
| NR_164708.1:n.988-3946C>T (ABI2) | ||
| NR_164709.1:n.987+4605C>T (ABI2) | ||
| NR_164710.1:n.1019+4605C>T (ABI2) | ||
| NR_164711.1:n.1184+4605C>T (ABI2) | ||
| NR_164712.1:n.1166+4605C>T (ABI2) | ||
| NR_164713.1:n.1252+4605C>T (ABI2) | ||
| NR_164714.1:n.652-3946C>T (ABI2) | ||
| NR_164715.1:n.1199-3946C>T (ABI2) | ||
| NR_164716.1:n.1106-3946C>T (ABI2) | ||
| NR_164717.1:n.1183+4605C>T (ABI2) | ||
| NR_164718.1:n.565+4605C>T (ABI2) |