Revel Score:
ENST00000245503 (MANE Select)
0.635
ENST00000397183
0.635
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10533314T>G , CM000679.2:g.10533314T>G | GRCh38 |
| NC_000017.10:g.10436631T>G , CM000679.1:g.10436631T>G | GRCh37 |
| NC_000017.9:g.10377356T>G | NCBI36 |
| NG_013014.1:g.21387A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245503.10:c.2412A>C (MYH2) MANE Select | ENSP00000245503.5:p.Arg804Ser | |
| ENST00000245503.9:c.2412A>C (MYH2) | ENSP00000245503.5:p.Arg804Ser | |
| ENST00000397183.6:c.2412A>C (MYH2) | ENSP00000380367.2:p.Arg804Ser | |
| ENST00000532183.6:c.1974+3216A>C (MYH2) | ENSP00000433944.1:n.1974+3216A>C | |
| ENST00000622564.4:c.1974+3216A>C (MYH2) | ENSP00000482463.1:n.1974+3216A>C | |
| NM_001100112.1:c.2412A>C (MYH2) | NP_001093582.1:p.Arg804Ser | |
| NM_017534.5:c.2412A>C (MYH2) | NP_060004.3:p.Arg804Ser | |
| NR_125367.1:n.168-34223T>G (MYHAS) | ||
| NM_017534.6:c.2412A>C (MYH2) MANE Select | NP_060004.3:p.Arg804Ser | |
| NM_001100112.2:c.2412A>C (MYH2) | NP_001093582.1:p.Arg804Ser |