Revel Score:
ENST00000406487 (MANE Select)
0.075
ENST00000329509
0.075
ENST00000401942
0.075
ENST00000406917
0.075
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43071794T>A , CM000681.2:g.43071794T>A | GRCh38 |
| NC_000019.9:g.43575946T>A , CM000681.1:g.43575946T>A | GRCh37 |
| NC_000019.8:g.48267786T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406487.6:c.870A>T (PSG2) MANE Select | ENSP00000385706.1:p.Gln290His | |
| ENST00000329509.6:c.215A>T (PSG2) | ||
| ENST00000406487.5:c.870A>T (PSG2) | ENSP00000385706.1:p.Gln290His | |
| ENST00000593482.1:n.534A>T (PSG2) | ||
| ENST00000618424.4:c.709+3560A>T (PSG7) | ENSP00000478484.1:n.709+3560A>T | |
| NM_031246.3:c.870A>T (PSG2) | NP_112536.2:p.Gln290His | |
| XM_011527131.1:c.965-38422A>T (PSG5) | XP_011525433.1:n.965-38422A>T | |
| NM_031246.4:c.870A>T (PSG2) MANE Select | NP_112536.2:p.Gln290His |