Linked Data
ClinVar Variation Id:
3212788
ClinVar RCV Id:
RCV004503708
dbSNP Id:
rs200189586
ExAC:
2:190924997 T / C
gnomAD v2:
2-190924997-T-C
gnomAD v3:
2-190060271-T-C
gnomAD v4:
2-190060271-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190060271T>C , CM000664.2:g.190060271T>C | GRCh38 |
| NC_000002.11:g.190924997T>C , CM000664.1:g.190924997T>C | GRCh37 |
| NC_000002.10:g.190633242T>C | NCBI36 |
| NG_009800.1:g.7459A>G , LRG_200:g.7459A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260950.5:c.538A>G (MSTN) MANE Select | ENSP00000260950.3:p.Met180Val | |
| ENST00000260950.4:c.538A>G (MSTN) | ENSP00000260950.3:p.Met180Val | |
| ENST00000478197.1:n.220-18952T>C (C2orf88) | ||
| ENST00000495546.1:n.202-19683T>C (C2orf88) | ||
| NM_005259.2:c.538A>G , LRG_200t1:c.538A>G (MSTN) | NP_005250.1:p.Met180Val | |
| XM_005246905.1:c.-359-19683T>C (C2orf88) | XP_005246962.1:n.-359-19683T>C | |
| XM_011510958.1:c.154A>G (MSTN) | XP_011509260.1:p.Met52Val | |
| XM_011511982.1:c.-433-19683T>C (C2orf88) | XP_011510284.1:n.-433-19683T>C | |
| XM_011511986.1:c.-234-19683T>C (C2orf88) | XP_011510288.1:n.-234-19683T>C | |
| XM_011511986.2:c.-234-19683T>C (C2orf88) | XP_011510288.1:n.-234-19683T>C | |
| NM_005259.3:c.538A>G (MSTN) MANE Select | NP_005250.1:p.Met180Val |