ClinVar RCV:
ClinVar Variation:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79077570G>C , CM000667.2:g.79077570G>C | GRCh38 |
| NC_000005.9:g.78373393G>C , CM000667.1:g.78373393G>C | GRCh37 |
| NC_000005.8:g.78409149G>C | NCBI36 |
| NG_029157.1:g.12847G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255192.8:c.124G>C (BHMT2) MANE Select | ENSP00000255192.3:p.Gly42Arg | |
| ENST00000255192.7:c.124G>C (BHMT2) | ENSP00000255192.3:p.Gly42Arg | |
| ENST00000518666.5:c.-57G>C (BHMT2) | ENSP00000428640.1:n.-57G>C | |
| ENST00000518758.1:n.139G>C (BHMT2) | ||
| ENST00000519743.1:c.80-18G>C (BHMT2) | ENSP00000430155.1:n.80-18G>C | |
| ENST00000520388.5:n.607-21662C>G (DMGDH) | ||
| ENST00000521567.1:c.124G>C (BHMT2) | ENSP00000430278.1:p.Gly42Arg | |
| ENST00000523472.1:n.131G>C (BHMT2) | ||
| NM_001178005.1:c.124G>C (BHMT2) | NP_001171476.1:p.Gly42Arg | |
| NM_017614.4:c.124G>C (BHMT2) | NP_060084.2:p.Gly42Arg | |
| NM_017614.5:c.124G>C (BHMT2) MANE Select | NP_060084.2:p.Gly42Arg | |
| NM_001178005.2:c.124G>C (BHMT2) | NP_001171476.1:p.Gly42Arg |