Linked Data
ClinVar Variation Id:
321672
dbSNP Id:
rs138265883
ExAC:
17:10432042 G / A
gnomAD v2:
17-10432042-G-A
gnomAD v3:
17-10528725-G-A
gnomAD v4:
17-10528725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10528725G>A , CM000679.2:g.10528725G>A | GRCh38 |
| NC_000017.10:g.10432042G>A , CM000679.1:g.10432042G>A | GRCh37 |
| NC_000017.9:g.10372767G>A | NCBI36 |
| NG_013014.1:g.25976C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245503.10:c.3709C>T (MYH2) MANE Select | ENSP00000245503.5:p.Leu1237Phe | |
| ENST00000245503.9:c.3709C>T (MYH2) | ENSP00000245503.5:p.Leu1237Phe | |
| ENST00000397183.6:c.3709C>T (MYH2) | ENSP00000380367.2:p.Leu1237Phe | |
| ENST00000532183.6:c.1975-7293C>T (MYH2) | ENSP00000433944.1:n.1975-7293C>T | |
| ENST00000622564.4:c.1975-7293C>T (MYH2) | ENSP00000482463.1:n.1975-7293C>T | |
| NM_001100112.1:c.3709C>T (MYH2) | NP_001093582.1:p.Leu1237Phe | |
| NM_017534.5:c.3709C>T (MYH2) | NP_060004.3:p.Leu1237Phe | |
| NR_125367.1:n.168-38812G>A (MYHAS) | ||
| NM_017534.6:c.3709C>T (MYH2) MANE Select | NP_060004.3:p.Leu1237Phe | |
| NM_001100112.2:c.3709C>T (MYH2) | NP_001093582.1:p.Leu1237Phe |