Linked Data
dbSNP Id:
rs782534334
ExAC:
X:100667614 C / G
gnomAD v2:
X-100667614-C-G
gnomAD v4:
X-101412626-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101412626C>G , CM000685.2:g.101412626C>G | GRCh38 |
| NC_000023.10:g.100667614C>G , CM000685.1:g.100667614C>G | GRCh37 |
| NC_000023.9:g.100554270C>G | NCBI36 |
| NG_007119.1:g.338G>C , LRG_672:g.338G>C | |
| NG_016327.1:g.9424C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316594.6:c.638C>G (HNRNPH2) MANE Select | ENSP00000361927.2:p.Pro213Arg | |
| ENST00000316594.5:c.638C>G (HNRNPH2) | ENSP00000361927.2:p.Pro213Arg | |
| NM_001032393.2:c.638C>G (HNRNPH2) | NP_001027565.1:p.Pro213Arg | |
| NM_001199973.1:c.*634C>G (RPL36A-HNRNPH2) | NP_001186902.1:n.*634C>G | |
| NM_001199974.1:c.*634C>G (RPL36A-HNRNPH2) | NP_001186903.1:n.*634C>G | |
| NM_019597.4:c.638C>G (HNRNPH2) | NP_062543.1:p.Pro213Arg | |
| NM_001199973.2:c.*634C>G (RPL36A-HNRNPH2) | NP_001186902.2:n.*634C>G | |
| NM_001199974.2:c.*634C>G (RPL36A-HNRNPH2) | NP_001186903.2:n.*634C>G | |
| NM_019597.5:c.638C>G (HNRNPH2) MANE Select | NP_062543.1:p.Pro213Arg | |
| NM_001032393.3:c.638C>G (HNRNPH2) | NP_001027565.1:p.Pro213Arg |