ClinVar RCV:
ClinVar Variation:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79079391C>G , CM000667.2:g.79079391C>G | GRCh38 |
| NC_000005.9:g.78375214C>G , CM000667.1:g.78375214C>G | GRCh37 |
| NC_000005.8:g.78410970C>G | NCBI36 |
| NG_029157.1:g.14668C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255192.8:c.189C>G (BHMT2) MANE Select | ENSP00000255192.3:p.Phe63Leu | |
| ENST00000255192.7:c.189C>G (BHMT2) | ENSP00000255192.3:p.Phe63Leu | |
| ENST00000518666.5:c.9C>G (BHMT2) | ENSP00000428640.1:p.Phe3Leu | |
| ENST00000518758.1:n.204C>G (BHMT2) | ||
| ENST00000519743.1:c.127C>G (BHMT2) | ENSP00000430155.1:p.Leu43Val | |
| ENST00000520388.5:n.607-23483G>C (DMGDH) | ||
| ENST00000521567.1:c.189C>G (BHMT2) | ENSP00000430278.1:p.Phe63Leu | |
| NM_001178005.1:c.189C>G (BHMT2) | NP_001171476.1:p.Phe63Leu | |
| NM_017614.4:c.189C>G (BHMT2) | NP_060084.2:p.Phe63Leu | |
| NM_017614.5:c.189C>G (BHMT2) MANE Select | NP_060084.2:p.Phe63Leu | |
| NM_001178005.2:c.189C>G (BHMT2) | NP_001171476.1:p.Phe63Leu |