Linked Data
ClinVar Variation Id:
183665
ClinVar RCV Id:
RCV000162322
dbSNP Id:
rs879255254
gnomAD v4:
17-10533325-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10533328del , CM000679.2:g.10533328del | GRCh38 |
| NC_000017.10:g.10436645del , CM000679.1:g.10436645del | GRCh37 |
| NC_000017.9:g.10377370del | NCBI36 |
| NG_013014.1:g.21375del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245503.10:c.2400del (MYH2) MANE Select | ENSP00000245503.5:p.Phe801SerfsTer28 | |
| ENST00000245503.9:c.2400del (MYH2) | ENSP00000245503.5:p.Phe801SerfsTer28 | |
| ENST00000397183.6:c.2400del (MYH2) | ENSP00000380367.2:p.Phe801SerfsTer28 | |
| ENST00000532183.6:c.1974+3204del (MYH2) | ENSP00000433944.1:n.1974+3204del | |
| ENST00000622564.4:c.1974+3204del (MYH2) | ENSP00000482463.1:n.1974+3204del | |
| NM_001100112.1:c.2400del (MYH2) | NP_001093582.1:p.Phe801SerfsTer28 | |
| NM_017534.5:c.2400del (MYH2) | NP_060004.3:p.Phe801SerfsTer28 | |
| NR_125367.1:n.168-34209del (MYHAS) | ||
| NM_017534.6:c.2400del (MYH2) MANE Select | NP_060004.3:p.Phe801SerfsTer28 | |
| NM_001100112.2:c.2400del (MYH2) | NP_001093582.1:p.Phe801SerfsTer28 |