Canonical Allele Identifier: CA2027116
Gene: MSTN HGNC NCBI
C2orf88 HGNC NCBI

Linked Data

ClinVar Variation Id: 3212788
ClinVar RCV Id: RCV004503708
dbSNP Id: rs200189586

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