Linked Data
ClinVar Variation Id:
285372
dbSNP Id:
rs113190032
ExAC:
17:10433031 T / C
gnomAD v2:
17-10433031-T-C
gnomAD v3:
17-10529714-T-C
gnomAD v4:
17-10529714-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10529714T>C , CM000679.2:g.10529714T>C | GRCh38 |
| NC_000017.10:g.10433031T>C , CM000679.1:g.10433031T>C | GRCh37 |
| NC_000017.9:g.10373756T>C | NCBI36 |
| NG_013014.1:g.24987A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245503.10:c.2967A>G (MYH2) MANE Select | ENSP00000245503.5:p.Ala989= | |
| ENST00000245503.9:c.2967A>G (MYH2) | ENSP00000245503.5:p.Ala989= | |
| ENST00000397183.6:c.2967A>G (MYH2) | ENSP00000380367.2:p.Ala989= | |
| ENST00000532183.6:c.1974+6816A>G (MYH2) | ENSP00000433944.1:n.1974+6816A>G | |
| ENST00000622564.4:c.1974+6816A>G (MYH2) | ENSP00000482463.1:n.1974+6816A>G | |
| NM_001100112.1:c.2967A>G (MYH2) | NP_001093582.1:p.Ala989= | |
| NM_017534.5:c.2967A>G (MYH2) | NP_060004.3:p.Ala989= | |
| NR_125367.1:n.168-37823T>C (MYHAS) | ||
| NM_017534.6:c.2967A>G (MYH2) MANE Select | NP_060004.3:p.Ala989= | |
| NM_001100112.2:c.2967A>G (MYH2) | NP_001093582.1:p.Ala989= |