Canonical Allele Identifier: CA349991191
Gene: MSTN HGNC NCBI
C2orf88 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190924847A>T (hg19) chr2:g.190060121A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190060121A>T , CM000664.2:g.190060121A>T GRCh38
NC_000002.11:g.190924847A>T , CM000664.1:g.190924847A>T GRCh37
NC_000002.10:g.190633092A>T NCBI36
NG_009800.1:g.7609T>A , LRG_200:g.7609T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260950.5:c.688T>A (MSTN) MANE Select ENSP00000260950.3:p.Leu230Ile
ENST00000260950.4:c.688T>A (MSTN) ENSP00000260950.3:p.Leu230Ile
ENST00000478197.1:n.220-19102A>T (C2orf88)
ENST00000495546.1:n.202-19833A>T (C2orf88)
NM_005259.2:c.688T>A , LRG_200t1:c.688T>A (MSTN) NP_005250.1:p.Leu230Ile
XM_005246905.1:c.-359-19833A>T (C2orf88) XP_005246962.1:n.-359-19833A>T
XM_011510958.1:c.304T>A (MSTN) XP_011509260.1:p.Leu102Ile
XM_011511982.1:c.-433-19833A>T (C2orf88) XP_011510284.1:n.-433-19833A>T
XM_011511986.1:c.-234-19833A>T (C2orf88) XP_011510288.1:n.-234-19833A>T
XM_011511986.2:c.-234-19833A>T (C2orf88) XP_011510288.1:n.-234-19833A>T
NM_005259.3:c.688T>A (MSTN) MANE Select NP_005250.1:p.Leu230Ile
Search 100 bp 5'
Search 100 bp 3'