Hs03683534_cn

• Gene Symbol: MYOM2
• Assay Reference Genome Location: Chr.8:2075531 on build GRCh38
• Cytoband: 8p23.3

Target Gene Details

• Entrez Gene ID: 9172
• Gene Name: myomesin 2
• Gene Aliases: TTNAP
• Location: Chr.8:2045043-2145456 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYOM2	NM_003970.3			NP_003961.3
	XM_006716237.1			XP_006716300.1
	AK297890.1
	BC052969.1			AAH52969.1
	X69089.1			CAA48832.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1031801	Chr.8:1960987 - 2326366 on Build GRCh38	Gain	LOC105377781 KBTBD11 MYOM2 KBTBD11-OT1 MIR7160 LOC101928058
esv3891267	Chr.8:1755403 - 2343278 on Build GRCh38	Gain	LOC105377781 MIR3674 ARHGEF10 KBTBD11 LOC101927752 LOC100131395 MIR596 MYOM2 KBTBD11-OT1 MIR7160 LOC101928058 CLN8
esv2422414	Chr.8:2037397 - 2606201 on Build GRCh38	Duplication	LOC105377781 LOC101927815 MYOM2 MIR7160
nsv609569	Chr.8:2044822 - 2082636 on Build GRCh38	Gain	MYOM2 MIR7160
esv3891268	Chr.8:2029949 - 2223287 on Build GRCh38	Loss	LOC105377781 MYOM2 MIR7160
nsv609531	Chr.8:1768870 - 2267169 on Build GRCh38	Gain	LOC105377781 MIR3674 ARHGEF10 KBTBD11 LOC100131395 MIR596 MYOM2 KBTBD11-OT1 MIR7160 LOC101928058 CLN8
nsv1025591	Chr.8:1755786 - 2335806 on Build GRCh38	Gain	LOC105377781 MIR3674 ARHGEF10 KBTBD11 LOC101927752 LOC100131395 MIR596 MYOM2 KBTBD11-OT1 MIR7160 LOC101928058 CLN8
nsv1024325	Chr.8:651043 - 3203837 on Build GRCh38	Gain	LOC105377781 MIR3674 DLGAP2 LOC101927815 LOC101927752 LOC401442 CSMD1 MIR596 MYOM2 LOC105377774 KBTBD11-OT1 MIR7160 ARHGEF10 KBTBD11 DLGAP2-AS1 LOC105377776 LOC100131395 LOC105377777 LOC286083 ERICH1-AS1 LOC105377792 LOC101928058 ERICH1 CLN8
esv3584564	Chr.8:2043999 - 2205170 on Build GRCh38	Gain	LOC105377781 MYOM2 MIR7160
esv2422491	Chr.8:2047068 - 2084668 on Build GRCh38	Duplication	MYOM2 MIR7160
nsv1022094	Chr.8:2075434 - 2335806 on Build GRCh38	Gain	LOC105377781 MYOM2 MIR7160
dgv65e213	Chr.8:2029164 - 2308582 on Build GRCh38	Gain	LOC105377781 MYOM2 MIR7160
esv3615853	Chr.8:2073218 - 2116488 on Build GRCh38	Gain	MYOM2 MIR7160

More Information

Additional Information:

For this assay, SNP(s) [rs77358769] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

muscle contraction

Function(s)

protein binding
structural constituent of muscle