Canonical Allele Identifier: CA349991764
Gene: MSTN HGNC NCBI
C2orf88 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190060382T>G , CM000664.2:g.190060382T>G GRCh38
NC_000002.11:g.190925108T>G , CM000664.1:g.190925108T>G GRCh37
NC_000002.10:g.190633353T>G NCBI36
NG_009800.1:g.7348A>C , LRG_200:g.7348A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260950.5:c.427A>C (MSTN) MANE Select ENSP00000260950.3:p.Ser143Arg
ENST00000260950.4:c.427A>C (MSTN) ENSP00000260950.3:p.Ser143Arg
ENST00000478197.1:n.220-18841T>G (C2orf88)
ENST00000495546.1:n.202-19572T>G (C2orf88)
NM_005259.2:c.427A>C , LRG_200t1:c.427A>C (MSTN) NP_005250.1:p.Ser143Arg
XM_005246905.1:c.-359-19572T>G (C2orf88) XP_005246962.1:n.-359-19572T>G
XM_011510958.1:c.43A>C (MSTN) XP_011509260.1:p.Ser15Arg
XM_011511982.1:c.-433-19572T>G (C2orf88) XP_011510284.1:n.-433-19572T>G
XM_011511986.1:c.-234-19572T>G (C2orf88) XP_011510288.1:n.-234-19572T>G
XM_011511986.2:c.-234-19572T>G (C2orf88) XP_011510288.1:n.-234-19572T>G
NM_005259.3:c.427A>C (MSTN) MANE Select NP_005250.1:p.Ser143Arg