Hs03868625_cn

• Gene Symbol: AHNAK2
• Assay Reference Genome Location: Chr.14:104939743 on build GRCh38
• Cytoband: 14q32.33

Target Gene Details

• Entrez Gene ID: 113146
• Gene Name: AHNAK nucleoprotein 2
• Gene Aliases: C14orf78
• Location: Chr.14:104937253-104978357 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AHNAK2	NM_138420.2	7	15828	NP_612429.2
	XM_005267299.1	7	15681	XP_005267356.1
	AB095939.1	1	6729	BAC23115.1
	AK126472.1	1	2310
	AL834367.1	1	872	CAD39030.1
	BC090889.1	3	946	AAH90889.1
	BX537923.1	1	1710	CAD97904.1
	BX538040.1	1	1484	CAD97981.1
	BX538106.1	1	1950	CAD98019.1
	BX538133.1	1	1371	CAD98034.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv566139	Chr.14:104880959 - 104950810 on Build GRCh38	Loss	PLD4 AHNAK2 CEP170B
nsv566099	Chr.14:104818822 - 104946204 on Build GRCh38	Gain	PLD4 AHNAK2 CEP170B LINC00638
nsv566141	Chr.14:104938047 - 105089059 on Build GRCh38	Gain	CDCA4 AHNAK2 C14orf79 GPR132
esv25274	Chr.14:104934334 - 104953760 on Build GRCh38	Gain	PLD4 AHNAK2
nsv952276	Chr.14:104922864 - 105021963 on Build GRCh38	Deletion	PLD4 CDCA4 AHNAK2 C14orf79
nsv1049253	Chr.14:104918622 - 105005518 on Build GRCh38	Gain	PLD4 AHNAK2 C14orf79
nsv1054574	Chr.14:103210111 - 105365114 on Build GRCh38	Loss	LOC105370691 MIR6765 LOC388022 CKB NUDT14 TMEM179 BTBD6 RD3L AHNAK2 LOC105370687 BRF1 SNORA28 PLD4 KIF26A PACS2 TRMT61A C14orf180 SIVA1 ADSSL1 CDCA4 LOC105370708 ASPG ZFYVE21 JAG2 MIR4710 PPP1R13B XRCC3 C14orf2 APOPT1 MIR203A AKT1 MIR203B KLC1 LINC00638 EIF5 LINC00637 BAG5 GPR132 LOC102723354 TDRD9 MARK3 ZBTB42 LOC105378183 LOC101929634 INF2 CEP170B C14orf79 LOC107984648

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

plasma membrane repair

Function(s)

protein binding