Linked Data
dbSNP Id:
rs778595531
ExAC:
17:10443386 G / C
gnomAD v2:
17-10443386-G-C
gnomAD v4:
17-10540069-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10540069G>C , CM000679.2:g.10540069G>C | GRCh38 |
| NC_000017.10:g.10443386G>C , CM000679.1:g.10443386G>C | GRCh37 |
| NC_000017.9:g.10384111G>C | NCBI36 |
| NG_013014.1:g.14632C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245503.10:c.1009-3C>G (MYH2) MANE Select | ENSP00000245503.5:n.1009-3C>G | |
| ENST00000245503.9:c.1009-3C>G (MYH2) | ENSP00000245503.5:n.1009-3C>G | |
| ENST00000397183.6:c.1009-3C>G (MYH2) | ENSP00000380367.2:n.1009-3C>G | |
| ENST00000532183.6:c.1009-3C>G (MYH2) | ENSP00000433944.1:n.1009-3C>G | |
| ENST00000622564.4:c.1009-3C>G (MYH2) | ENSP00000482463.1:n.1009-3C>G | |
| NM_001100112.1:c.1009-3C>G (MYH2) | NP_001093582.1:n.1009-3C>G | |
| NM_017534.5:c.1009-3C>G (MYH2) | NP_060004.3:n.1009-3C>G | |
| NR_125367.1:n.168-27468G>C (MYHAS) | ||
| NM_017534.6:c.1009-3C>G (MYH2) MANE Select | NP_060004.3:n.1009-3C>G | |
| NM_001100112.2:c.1009-3C>G (MYH2) | NP_001093582.1:n.1009-3C>G |