Revel Score:
ENST00000260950 (MANE Select)
0.075
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0253726 (EAS)
Genomes Max Group AF
0.02452723 (EAS)
Exomes Max Group AF
0.02508701 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190060319C>T , CM000664.2:g.190060319C>T | GRCh38 |
| NC_000002.11:g.190925045C>T , CM000664.1:g.190925045C>T | GRCh37 |
| NC_000002.10:g.190633290C>T | NCBI36 |
| NG_009800.1:g.7411G>A , LRG_200:g.7411G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260950.5:c.490G>A (MSTN) MANE Select | ENSP00000260950.3:p.Glu164Lys | |
| ENST00000260950.4:c.490G>A (MSTN) | ENSP00000260950.3:p.Glu164Lys | |
| ENST00000478197.1:n.220-18904C>T (C2orf88) | ||
| ENST00000495546.1:n.202-19635C>T (C2orf88) | ||
| NM_005259.2:c.490G>A , LRG_200t1:c.490G>A (MSTN) | NP_005250.1:p.Glu164Lys | |
| XM_005246905.1:c.-359-19635C>T (C2orf88) | XP_005246962.1:n.-359-19635C>T | |
| XM_011510958.1:c.106G>A (MSTN) | XP_011509260.1:p.Glu36Lys | |
| XM_011511982.1:c.-433-19635C>T (C2orf88) | XP_011510284.1:n.-433-19635C>T | |
| XM_011511986.1:c.-234-19635C>T (C2orf88) | XP_011510288.1:n.-234-19635C>T | |
| XM_011511986.2:c.-234-19635C>T (C2orf88) | XP_011510288.1:n.-234-19635C>T | |
| NM_005259.3:c.490G>A (MSTN) MANE Select | NP_005250.1:p.Glu164Lys |