Linked Data
ClinVar Variation Id:
260828
dbSNP Id:
rs11078849
ExAC:
17:10446508 T / G
gnomAD v2:
17-10446508-T-G
gnomAD v3:
17-10543191-T-G
gnomAD v4:
17-10543191-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10543191T>G , CM000679.2:g.10543191T>G | GRCh38 |
| NC_000017.10:g.10446508T>G , CM000679.1:g.10446508T>G | GRCh37 |
| NC_000017.9:g.10387233T>G | NCBI36 |
| NG_013014.1:g.11510A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245503.10:c.742-30A>C (MYH2) MANE Select | ENSP00000245503.5:n.742-30A>C | |
| ENST00000245503.9:c.742-30A>C (MYH2) | ENSP00000245503.5:n.742-30A>C | |
| ENST00000397183.6:c.742-30A>C (MYH2) | ENSP00000380367.2:n.742-30A>C | |
| ENST00000532183.6:c.742-30A>C (MYH2) | ENSP00000433944.1:n.742-30A>C | |
| ENST00000622564.4:c.742-30A>C (MYH2) | ENSP00000482463.1:n.742-30A>C | |
| NM_001100112.1:c.742-30A>C (MYH2) | NP_001093582.1:n.742-30A>C | |
| NM_017534.5:c.742-30A>C (MYH2) | NP_060004.3:n.742-30A>C | |
| NR_125367.1:n.168-24346T>G (MYHAS) | ||
| NM_017534.6:c.742-30A>C (MYH2) MANE Select | NP_060004.3:n.742-30A>C | |
| NM_001100112.2:c.742-30A>C (MYH2) | NP_001093582.1:n.742-30A>C |