Revel Score:
ENST00000327876 (MANE Select)
0.100
gnomAD v4:
Joint Max Group AF
0.00000251 (NFE)
Exomes Max Group AF
0.00000267 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47521613C>T , CM000664.2:g.47521613C>T | GRCh38 |
| NC_000002.11:g.47748752C>T , CM000664.1:g.47748752C>T | GRCh37 |
| NC_000002.10:g.47602256C>T | NCBI36 |
| NG_007110.2:g.123490C>T , LRG_218:g.123490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327876.5:c.587G>A (KCNK12) MANE Select | ENSP00000327611.3:p.Arg196His | |
| ENST00000644092.1:c.*1052+9193C>T (MSH2) | ENSP00000496351.1:n.*1052+9193C>T | |
| ENST00000645339.1:c.2752+9193C>T (MSH2) | ENSP00000496441.1:n.2752+9193C>T | |
| ENST00000645506.1:c.2752+9193C>T (MSH2) | ENSP00000495455.1:n.2752+9193C>T | |
| ENST00000646415.1:c.2752+9193C>T (MSH2) | ENSP00000495543.1:n.2752+9193C>T | |
| ENST00000327876.4:c.587G>A (KCNK12) | ENSP00000327611.3:p.Arg196His | |
| ENST00000461394.5:n.193+9193C>T (MSH2) | ||
| NM_022055.1:c.587G>A (KCNK12) | NP_071338.1:p.Arg196His | |
| XM_005264332.2:c.2752+9193C>T (MSH2) | XP_005264389.2:n.2752+9193C>T | |
| XM_011532867.1:c.2752+9193C>T (MSH2) | XP_011531169.1:n.2752+9193C>T | |
| XM_011532989.1:c.188G>A (KCNK12) | XP_011531291.1:p.Arg63His | |
| XR_939685.1:n.2824+9193C>T (MSH2) | ||
| XM_005264332.4:c.2752+9193C>T (MSH2) | XP_005264389.2:n.2752+9193C>T | |
| XM_011532867.2:c.2752+9193C>T (MSH2) | XP_011531169.1:n.2752+9193C>T | |
| XR_001738747.2:n.2814+9193C>T (MSH2) | ||
| XR_939685.2:n.2814+9193C>T (MSH2) | ||
| NM_022055.2:c.587G>A (KCNK12) MANE Select | NP_071338.1:p.Arg196His |