Linked Data
dbSNP Id:
rs200908904
ExAC:
2:190925019 T / A
gnomAD v2:
2-190925019-T-A
gnomAD v3:
2-190060293-T-A
gnomAD v4:
2-190060293-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190060293T>A , CM000664.2:g.190060293T>A | GRCh38 |
| NC_000002.11:g.190925019T>A , CM000664.1:g.190925019T>A | GRCh37 |
| NC_000002.10:g.190633264T>A | NCBI36 |
| NG_009800.1:g.7437A>T , LRG_200:g.7437A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260950.5:c.516A>T (MSTN) MANE Select | ENSP00000260950.3:p.Gln172His | |
| ENST00000260950.4:c.516A>T (MSTN) | ENSP00000260950.3:p.Gln172His | |
| ENST00000478197.1:n.220-18930T>A (C2orf88) | ||
| ENST00000495546.1:n.202-19661T>A (C2orf88) | ||
| NM_005259.2:c.516A>T , LRG_200t1:c.516A>T (MSTN) | NP_005250.1:p.Gln172His | |
| XM_005246905.1:c.-359-19661T>A (C2orf88) | XP_005246962.1:n.-359-19661T>A | |
| XM_011510958.1:c.132A>T (MSTN) | XP_011509260.1:p.Gln44His | |
| XM_011511982.1:c.-433-19661T>A (C2orf88) | XP_011510284.1:n.-433-19661T>A | |
| XM_011511986.1:c.-234-19661T>A (C2orf88) | XP_011510288.1:n.-234-19661T>A | |
| XM_011511986.2:c.-234-19661T>A (C2orf88) | XP_011510288.1:n.-234-19661T>A | |
| NM_005259.3:c.516A>T (MSTN) MANE Select | NP_005250.1:p.Gln172His |