Linked Data
ClinVar Variation Id:
183664
ClinVar RCV Id:
RCV000162321
dbSNP Id:
rs758395765
ExAC:
17:10436638 A / T
gnomAD v2:
17-10436638-A-T
gnomAD v3:
17-10533321-A-T
gnomAD v4:
17-10533321-A-T
PubMed:
PMID:20418530
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10533321A>T , CM000679.2:g.10533321A>T | GRCh38 |
| NC_000017.10:g.10436638A>T , CM000679.1:g.10436638A>T | GRCh37 |
| NC_000017.9:g.10377363A>T | NCBI36 |
| NG_013014.1:g.21380T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245503.10:c.2405T>A (MYH2) MANE Select | ENSP00000245503.5:p.Leu802Ter | |
| ENST00000245503.9:c.2405T>A (MYH2) | ENSP00000245503.5:p.Leu802Ter | |
| ENST00000397183.6:c.2405T>A (MYH2) | ENSP00000380367.2:p.Leu802Ter | |
| ENST00000532183.6:c.1974+3209T>A (MYH2) | ENSP00000433944.1:n.1974+3209T>A | |
| ENST00000622564.4:c.1974+3209T>A (MYH2) | ENSP00000482463.1:n.1974+3209T>A | |
| NM_001100112.1:c.2405T>A (MYH2) | NP_001093582.1:p.Leu802Ter | |
| NM_017534.5:c.2405T>A (MYH2) | NP_060004.3:p.Leu802Ter | |
| NR_125367.1:n.168-34216A>T (MYHAS) | ||
| NM_017534.6:c.2405T>A (MYH2) MANE Select | NP_060004.3:p.Leu802Ter | |
| NM_001100112.2:c.2405T>A (MYH2) | NP_001093582.1:p.Leu802Ter |