Canonical Allele Identifier: CA349991543
Gene: MSTN HGNC NCBI
C2orf88 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190925006T>A (hg19) chr2:g.190060280T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190060280T>A , CM000664.2:g.190060280T>A GRCh38
NC_000002.11:g.190925006T>A , CM000664.1:g.190925006T>A GRCh37
NC_000002.10:g.190633251T>A NCBI36
NG_009800.1:g.7450A>T , LRG_200:g.7450A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260950.5:c.529A>T (MSTN) MANE Select ENSP00000260950.3:p.Ile177Phe
ENST00000260950.4:c.529A>T (MSTN) ENSP00000260950.3:p.Ile177Phe
ENST00000478197.1:n.220-18943T>A (C2orf88)
ENST00000495546.1:n.202-19674T>A (C2orf88)
NM_005259.2:c.529A>T , LRG_200t1:c.529A>T (MSTN) NP_005250.1:p.Ile177Phe
XM_005246905.1:c.-359-19674T>A (C2orf88) XP_005246962.1:n.-359-19674T>A
XM_011510958.1:c.145A>T (MSTN) XP_011509260.1:p.Ile49Phe
XM_011511982.1:c.-433-19674T>A (C2orf88) XP_011510284.1:n.-433-19674T>A
XM_011511986.1:c.-234-19674T>A (C2orf88) XP_011510288.1:n.-234-19674T>A
XM_011511986.2:c.-234-19674T>A (C2orf88) XP_011510288.1:n.-234-19674T>A
NM_005259.3:c.529A>T (MSTN) MANE Select NP_005250.1:p.Ile177Phe
Search 100 bp 5'
Search 100 bp 3'