Revel Score:
ENST00000245503 (MANE Select)
0.221
ENST00000397183
0.221
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10533323G>T , CM000679.2:g.10533323G>T | GRCh38 |
| NC_000017.10:g.10436640G>T , CM000679.1:g.10436640G>T | GRCh37 |
| NC_000017.9:g.10377365G>T | NCBI36 |
| NG_013014.1:g.21378C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245503.10:c.2403C>A (MYH2) MANE Select | ENSP00000245503.5:p.Phe801Leu | |
| ENST00000245503.9:c.2403C>A (MYH2) | ENSP00000245503.5:p.Phe801Leu | |
| ENST00000397183.6:c.2403C>A (MYH2) | ENSP00000380367.2:p.Phe801Leu | |
| ENST00000532183.6:c.1974+3207C>A (MYH2) | ENSP00000433944.1:n.1974+3207C>A | |
| ENST00000622564.4:c.1974+3207C>A (MYH2) | ENSP00000482463.1:n.1974+3207C>A | |
| NM_001100112.1:c.2403C>A (MYH2) | NP_001093582.1:p.Phe801Leu | |
| NM_017534.5:c.2403C>A (MYH2) | NP_060004.3:p.Phe801Leu | |
| NR_125367.1:n.168-34214G>T (MYHAS) | ||
| NM_017534.6:c.2403C>A (MYH2) MANE Select | NP_060004.3:p.Phe801Leu | |
| NM_001100112.2:c.2403C>A (MYH2) | NP_001093582.1:p.Phe801Leu |