Linked Data
ClinVar Variation Id:
1401309
ClinVar RCV Id:
RCV001906267
dbSNP Id:
rs201434968
gnomAD v3:
17-10539997-T-A
gnomAD v4:
17-10539997-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10539997T>A , CM000679.2:g.10539997T>A | GRCh38 |
| NC_000017.10:g.10443314T>A , CM000679.1:g.10443314T>A | GRCh37 |
| NC_000017.9:g.10384039T>A | NCBI36 |
| NG_013014.1:g.14704A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245503.10:c.1078A>T (MYH2) MANE Select | ENSP00000245503.5:p.Met360Leu | |
| ENST00000245503.9:c.1078A>T (MYH2) | ENSP00000245503.5:p.Met360Leu | |
| ENST00000397183.6:c.1078A>T (MYH2) | ENSP00000380367.2:p.Met360Leu | |
| ENST00000532183.6:c.1078A>T (MYH2) | ENSP00000433944.1:p.Met360Leu | |
| ENST00000622564.4:c.1078A>T (MYH2) | ENSP00000482463.1:p.Met360Leu | |
| NM_001100112.1:c.1078A>T (MYH2) | NP_001093582.1:p.Met360Leu | |
| NM_017534.5:c.1078A>T (MYH2) | NP_060004.3:p.Met360Leu | |
| NR_125367.1:n.168-27540T>A (MYHAS) | ||
| NM_017534.6:c.1078A>T (MYH2) MANE Select | NP_060004.3:p.Met360Leu | |
| NM_001100112.2:c.1078A>T (MYH2) | NP_001093582.1:p.Met360Leu |