Linked Data
dbSNP Id:
rs1555988455
gnomAD v2:
X-100667679-G-A
gnomAD v3:
X-101412691-G-A
gnomAD v4:
X-101412691-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101412691G>A , CM000685.2:g.101412691G>A | GRCh38 |
| NC_000023.10:g.100667679G>A , CM000685.1:g.100667679G>A | GRCh37 |
| NC_000023.9:g.100554335G>A | NCBI36 |
| NG_007119.1:g.273C>T , LRG_672:g.273C>T | |
| NG_016327.1:g.9489G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316594.6:c.703G>A (HNRNPH2) MANE Select | ENSP00000361927.2:p.Ala235Thr | |
| ENST00000316594.5:c.703G>A (HNRNPH2) | ENSP00000361927.2:p.Ala235Thr | |
| NM_001032393.2:c.703G>A (HNRNPH2) | NP_001027565.1:p.Ala235Thr | |
| NM_001199973.1:c.*699G>A (RPL36A-HNRNPH2) | NP_001186902.1:n.*699G>A | |
| NM_001199974.1:c.*699G>A (RPL36A-HNRNPH2) | NP_001186903.1:n.*699G>A | |
| NM_019597.4:c.703G>A (HNRNPH2) | NP_062543.1:p.Ala235Thr | |
| NM_001199973.2:c.*699G>A (RPL36A-HNRNPH2) | NP_001186902.2:n.*699G>A | |
| NM_001199974.2:c.*699G>A (RPL36A-HNRNPH2) | NP_001186903.2:n.*699G>A | |
| NM_019597.5:c.703G>A (HNRNPH2) MANE Select | NP_062543.1:p.Ala235Thr | |
| NM_001032393.3:c.703G>A (HNRNPH2) | NP_001027565.1:p.Ala235Thr |