Linked Data
dbSNP Id:
rs188199560
gnomAD v2:
2-190924822-G-A
gnomAD v3:
2-190060096-G-A
gnomAD v4:
2-190060096-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190060096G>A , CM000664.2:g.190060096G>A | GRCh38 |
| NC_000002.11:g.190924822G>A , CM000664.1:g.190924822G>A | GRCh37 |
| NC_000002.10:g.190633067G>A | NCBI36 |
| NG_009800.1:g.7634C>T , LRG_200:g.7634C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260950.5:c.713C>T (MSTN) MANE Select | ENSP00000260950.3:p.Ala238Val | |
| ENST00000260950.4:c.713C>T (MSTN) | ENSP00000260950.3:p.Ala238Val | |
| ENST00000478197.1:n.220-19127G>A (C2orf88) | ||
| ENST00000495546.1:n.202-19858G>A (C2orf88) | ||
| NM_005259.2:c.713C>T , LRG_200t1:c.713C>T (MSTN) | NP_005250.1:p.Ala238Val | |
| XM_005246905.1:c.-359-19858G>A (C2orf88) | XP_005246962.1:n.-359-19858G>A | |
| XM_011510958.1:c.329C>T (MSTN) | XP_011509260.1:p.Ala110Val | |
| XM_011511982.1:c.-433-19858G>A (C2orf88) | XP_011510284.1:n.-433-19858G>A | |
| XM_011511986.1:c.-234-19858G>A (C2orf88) | XP_011510288.1:n.-234-19858G>A | |
| XM_011511986.2:c.-234-19858G>A (C2orf88) | XP_011510288.1:n.-234-19858G>A | |
| NM_005259.3:c.713C>T (MSTN) MANE Select | NP_005250.1:p.Ala238Val |