Revel Score:
ENST00000245503 (MANE Select)
0.389
ENST00000397183
0.389
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10533312A>C , CM000679.2:g.10533312A>C | GRCh38 |
| NC_000017.10:g.10436629A>C , CM000679.1:g.10436629A>C | GRCh37 |
| NC_000017.9:g.10377354A>C | NCBI36 |
| NG_013014.1:g.21389T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245503.10:c.2414T>G (MYH2) MANE Select | ENSP00000245503.5:p.Val805Gly | |
| ENST00000245503.9:c.2414T>G (MYH2) | ENSP00000245503.5:p.Val805Gly | |
| ENST00000397183.6:c.2414T>G (MYH2) | ENSP00000380367.2:p.Val805Gly | |
| ENST00000532183.6:c.1974+3218T>G (MYH2) | ENSP00000433944.1:n.1974+3218T>G | |
| ENST00000622564.4:c.1974+3218T>G (MYH2) | ENSP00000482463.1:n.1974+3218T>G | |
| NM_001100112.1:c.2414T>G (MYH2) | NP_001093582.1:p.Val805Gly | |
| NM_017534.5:c.2414T>G (MYH2) | NP_060004.3:p.Val805Gly | |
| NR_125367.1:n.168-34225A>C (MYHAS) | ||
| NM_017534.6:c.2414T>G (MYH2) MANE Select | NP_060004.3:p.Val805Gly | |
| NM_001100112.2:c.2414T>G (MYH2) | NP_001093582.1:p.Val805Gly |