Hs03687387_cn

• Gene Symbol: MYOM2
• Assay Reference Genome Location: Chr.8:2048026 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	MYOM2 KBTBD11-OT1 LOC101928058 MIR7160 LOC105377781 KBTBD11
esv3891267	Chr.8:1755403 - 2343278 on Build GRCh38	Gain	MYOM2 KBTBD11-OT1 LOC101928058 LOC101927752 MIR3674 MIR7160 LOC105377781 LOC100131395 MIR596 CLN8 KBTBD11 ARHGEF10
nsv528662	Chr.8:2006646 - 2067934 on Build GRCh38	Loss	MYOM2 KBTBD11
esv2422414	Chr.8:2037397 - 2606201 on Build GRCh38	Duplication	MYOM2 MIR7160 LOC105377781 LOC101927815
nsv609569	Chr.8:2044822 - 2082636 on Build GRCh38	Gain	MYOM2 MIR7160
esv3615852	Chr.8:2021641 - 2061413 on Build GRCh38	Loss	MYOM2
esv3891268	Chr.8:2029949 - 2223287 on Build GRCh38	Loss	MYOM2 MIR7160 LOC105377781
nsv609568	Chr.8:2007117 - 2049423 on Build GRCh38	Loss	MYOM2
nsv609531	Chr.8:1768870 - 2267169 on Build GRCh38	Gain	MYOM2 KBTBD11-OT1 LOC101928058 MIR3674 MIR7160 LOC105377781 LOC100131395 MIR596 CLN8 KBTBD11 ARHGEF10
nsv1025591	Chr.8:1755786 - 2335806 on Build GRCh38	Gain	MYOM2 KBTBD11-OT1 LOC101928058 LOC101927752 MIR3674 MIR7160 LOC105377781 LOC100131395 MIR596 CLN8 KBTBD11 ARHGEF10
nsv1024325	Chr.8:651043 - 3203837 on Build GRCh38	Gain	ERICH1-AS1 MYOM2 LOC105377792 MIR3674 MIR7160 DLGAP2 LOC105377781 LOC100131395 LOC286083 LOC401442 CLN8 KBTBD11 LOC101927815 ARHGEF10 DLGAP2-AS1 LOC105377776 KBTBD11-OT1 LOC101928058 LOC101927752 LOC105377774 ERICH1 MIR596 CSMD1 LOC105377777
dgv6807n100	Chr.8:2043999 - 2067934 on Build GRCh38	Loss	MYOM2
esv2422491	Chr.8:2047068 - 2084668 on Build GRCh38	Duplication	MYOM2 MIR7160
dgv65e213	Chr.8:2029164 - 2308582 on Build GRCh38	Gain	MYOM2 MIR7160 LOC105377781

More Information

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

Gene Ontology Categories:

Process(es)

muscle contraction

Function(s)

protein binding
structural constituent of muscle