Linked Data
ClinVar Variation Id:
333242
dbSNP Id:
rs138343163
ExAC:
2:190927060 C / T
gnomAD v2:
2-190927060-C-T
gnomAD v3:
2-190062334-C-T
gnomAD v4:
2-190062334-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190062334C>T , CM000664.2:g.190062334C>T | GRCh38 |
| NC_000002.11:g.190927060C>T , CM000664.1:g.190927060C>T | GRCh37 |
| NC_000002.10:g.190635305C>T | NCBI36 |
| NG_009800.1:g.5396G>A , LRG_200:g.5396G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260950.5:c.263G>A (MSTN) MANE Select | ENSP00000260950.3:p.Arg88Gln | |
| ENST00000260950.4:c.263G>A (MSTN) | ENSP00000260950.3:p.Arg88Gln | |
| ENST00000478197.1:n.220-16889C>T (C2orf88) | ||
| ENST00000495546.1:n.202-17620C>T (C2orf88) | ||
| NM_005259.2:c.263G>A , LRG_200t1:c.263G>A (MSTN) | NP_005250.1:p.Arg88Gln | |
| XM_005246905.1:c.-359-17620C>T (C2orf88) | XP_005246962.1:n.-359-17620C>T | |
| XM_011511982.1:c.-433-17620C>T (C2orf88) | XP_011510284.1:n.-433-17620C>T | |
| XM_011511986.1:c.-234-17620C>T (C2orf88) | XP_011510288.1:n.-234-17620C>T | |
| XM_011511986.2:c.-234-17620C>T (C2orf88) | XP_011510288.1:n.-234-17620C>T | |
| NM_005259.3:c.263G>A (MSTN) MANE Select | NP_005250.1:p.Arg88Gln |