Canonical Allele Identifier: CA2027184
Gene: MSTN HGNC NCBI
C2orf88 HGNC NCBI

Linked Data

ClinVar Variation Id: 333242
dbSNP Id: rs138343163

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