Linked Data
ClinVar Variation Id:
333218
ClinVar RCV Id:
RCV000373119
dbSNP Id:
rs3791782
gnomAD v2:
2-190920652-T-C
gnomAD v3:
2-190055926-T-C
gnomAD v4:
2-190055926-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190055926T>C , CM000664.2:g.190055926T>C | GRCh38 |
| NC_000002.11:g.190920652T>C , CM000664.1:g.190920652T>C | GRCh37 |
| NC_000002.10:g.190628897T>C | NCBI36 |
| NG_009800.1:g.11804A>G , LRG_200:g.11804A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260950.5:c.*1332A>G (MSTN) MANE Select | ENSP00000260950.3:n.*1332A>G | |
| ENST00000260950.4:c.*1332A>G (MSTN) | ENSP00000260950.3:n.*1332A>G | |
| ENST00000478197.1:n.220-23297T>C (C2orf88) | ||
| ENST00000495546.1:n.202-24028T>C (C2orf88) | ||
| NM_005259.2:c.*1332A>G , LRG_200t1:c.*1332A>G (MSTN) | NP_005250.1:n.*1332A>G | |
| XM_005246905.1:c.-359-24028T>C (C2orf88) | XP_005246962.1:n.-359-24028T>C | |
| XM_011510958.1:c.*1332A>G (MSTN) | XP_011509260.1:n.*1332A>G | |
| XM_011511982.1:c.-433-24028T>C (C2orf88) | XP_011510284.1:n.-433-24028T>C | |
| XM_011511986.1:c.-234-24028T>C (C2orf88) | XP_011510288.1:n.-234-24028T>C | |
| XM_011511986.2:c.-234-24028T>C (C2orf88) | XP_011510288.1:n.-234-24028T>C | |
| NM_005259.3:c.*1332A>G (MSTN) MANE Select | NP_005250.1:n.*1332A>G |