Hs06238960_cn

• Gene Symbol: MYOM2
• Assay Reference Genome Location: Chr.8:2046856 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 1

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
	AL596730.1
	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
nsv1031388	Chr.8:2021565 - 2051447 on Build GRCh38	Loss	MYOM2
nsv1031801	Chr.8:1960987 - 2326366 on Build GRCh38	Gain	LOC105377781 LOC101928058 KBTBD11 MIR7160 KBTBD11-OT1 MYOM2
esv3891267	Chr.8:1755403 - 2343278 on Build GRCh38	Gain	LOC105377781 LOC101928058 LOC101927752 MIR3674 KBTBD11 MIR7160 ARHGEF10 MIR596 KBTBD11-OT1 MYOM2 CLN8 LOC100131395
nsv528662	Chr.8:2006646 - 2067934 on Build GRCh38	Loss	KBTBD11 MYOM2
esv2422414	Chr.8:2037397 - 2606201 on Build GRCh38	Duplication	LOC105377781 MIR7160 LOC101927815 MYOM2
nsv609569	Chr.8:2044822 - 2082636 on Build GRCh38	Gain	MIR7160 MYOM2
esv3615852	Chr.8:2021641 - 2061413 on Build GRCh38	Loss	MYOM2
esv3891268	Chr.8:2029949 - 2223287 on Build GRCh38	Loss	LOC105377781 MIR7160 MYOM2
nsv609568	Chr.8:2007117 - 2049423 on Build GRCh38	Loss	MYOM2
nsv609531	Chr.8:1768870 - 2267169 on Build GRCh38	Gain	LOC105377781 LOC101928058 MIR3674 KBTBD11 MIR7160 ARHGEF10 MIR596 KBTBD11-OT1 MYOM2 CLN8 LOC100131395
nsv1025591	Chr.8:1755786 - 2335806 on Build GRCh38	Gain	LOC105377781 LOC101928058 LOC101927752 MIR3674 KBTBD11 MIR7160 ARHGEF10 MIR596 KBTBD11-OT1 MYOM2 CLN8 LOC100131395
nsv1024325	Chr.8:651043 - 3203837 on Build GRCh38	Gain	LOC105377781 DLGAP2-AS1 LOC101927752 LOC401442 MIR3674 MIR7160 ERICH1 ARHGEF10 KBTBD11-OT1 DLGAP2 LOC101928058 LOC105377792 LOC105377774 ERICH1-AS1 CSMD1 KBTBD11 LOC105377776 LOC105377777 MIR596 LOC101927815 MYOM2 CLN8 LOC100131395 LOC286083
dgv6807n100	Chr.8:2043999 - 2067934 on Build GRCh38	Loss	MYOM2
dgv65e213	Chr.8:2029164 - 2308582 on Build GRCh38	Gain	LOC105377781 MIR7160 MYOM2

More Information

Additional Information:

For this assay, SNP(s) [rs73657716] 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