Revel Score:
ENST00000457902
0.185
ENST00000316594 (MANE Select)
0.185
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101412604C>T , CM000685.2:g.101412604C>T | GRCh38 |
| NC_000023.10:g.100667592C>T , CM000685.1:g.100667592C>T | GRCh37 |
| NC_000023.9:g.100554248C>T | NCBI36 |
| NG_007119.1:g.360G>A , LRG_672:g.360G>A | |
| NG_016327.1:g.9402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316594.6:c.616C>T (HNRNPH2) MANE Select | ENSP00000361927.2:p.Arg206Trp | |
| ENST00000316594.5:c.616C>T (HNRNPH2) | ENSP00000361927.2:p.Arg206Trp | |
| NM_001032393.2:c.616C>T (HNRNPH2) | NP_001027565.1:p.Arg206Trp | |
| NM_001199973.1:c.*612C>T (RPL36A-HNRNPH2) | NP_001186902.1:n.*612C>T | |
| NM_001199974.1:c.*612C>T (RPL36A-HNRNPH2) | NP_001186903.1:n.*612C>T | |
| NM_019597.4:c.616C>T (HNRNPH2) | NP_062543.1:p.Arg206Trp | |
| NM_001199973.2:c.*612C>T (RPL36A-HNRNPH2) | NP_001186902.2:n.*612C>T | |
| NM_001199974.2:c.*612C>T (RPL36A-HNRNPH2) | NP_001186903.2:n.*612C>T | |
| NM_019597.5:c.616C>T (HNRNPH2) MANE Select | NP_062543.1:p.Arg206Trp | |
| NM_001032393.3:c.616C>T (HNRNPH2) | NP_001027565.1:p.Arg206Trp |