Hs04204136_cn

• Gene Symbol: AMY2A
• Assay Reference Genome Location: Chr.1:103618443 on build GRCh38
• Cytoband: 1p21.1

Target Gene Details

• Entrez Gene ID: 279
• Gene Name: amylase, alpha 2A (pancreatic)
• Gene Aliases: AMY2, PA
• Location: Chr.1:103617332-103625780 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMY2A	NM_000699.3			NP_000690.1
	AK223463.1			BAD97183.1
	BC007060.1			AAH07060.1
	BC146997.1
	M28443.1			AAA51724.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv398n54	Chr.1:103572395 - 103623702 on Build GRCh38	Gain	AMY2A AMY2B
nsv483008	Chr.1:103611912 - 103769127 on Build GRCh38	Gain+Loss	AMY2A AMY1A AMY1C AMY1B
nsv526367	Chr.1:103477009 - 103787255 on Build GRCh38	Gain	ACTG1P4 AMY2A LOC101928436 AMY1A RNPC3 AMY2B AMY1C AMY1B
esv1003868	Chr.1:103594092 - 103760776 on Build GRCh38	Gain	AMY2A AMY1A AMY1C AMY1B
nsv1152675	Chr.1:103561077 - 103681578 on Build GRCh38	Duplication	ACTG1P4 AMY2A AMY1A AMY2B
nsv514909	Chr.1:103567263 - 103630575 on Build GRCh38	Gain	ACTG1P4 AMY2A AMY2B
nsv547016	Chr.1:103597390 - 103763694 on Build GRCh38	Gain+Loss	AMY2A AMY1A AMY1C AMY1B
dgv405n54	Chr.1:103595831 - 103731434 on Build GRCh38	Loss	AMY2A AMY1A AMY1B
dgv2e203	Chr.1:103556030 - 103761017 on Build GRCh38	Gain+Loss	ACTG1P4 AMY2A AMY1A AMY2B AMY1C AMY1B
dgv423n54	Chr.1:103612150 - 103624903 on Build GRCh38	Gain	AMY2A
dgv220n100	Chr.1:103589725 - 103766545 on Build GRCh38	Gain+Loss	AMY2A AMY1A AMY1C AMY1B
dgv397n54	Chr.1:103567100 - 103775792 on Build GRCh38	Loss	ACTG1P4 AMY2A AMY1A AMY2B AMY1C AMY1B
dgv429n54	Chr.1:103613322 - 103618643 on Build GRCh38	Loss	AMY2A
dgv223n100	Chr.1:103613168 - 103725588 on Build GRCh38	Gain+Loss	AMY2A AMY1A AMY1B
dgv404n54	Chr.1:103594629 - 103684099 on Build GRCh38	Loss	AMY2A AMY1A
esv2715585	Chr.1:103594409 - 103761140 on Build GRCh38	Deletion	AMY2A AMY1A AMY1C AMY1B
esv3893856	Chr.1:103555093 - 103755245 on Build GRCh38	Gain+Loss	ACTG1P4 AMY2A AMY1A RNPC3 AMY2B AMY1C AMY1B
dgv213n100	Chr.1:103458409 - 103725588 on Build GRCh38	Gain	ACTG1P4 AMY2A LOC101928436 AMY1A RNPC3 AMY2B AMY1B
nsv428157	Chr.1:103447737 - 103909380 on Build GRCh38	Gain+Loss	ACTG1P4 AMY2A LOC101928436 AMY1A RNPC3 AMY2B AMY1C AMY1B
nsv547028	Chr.1:103603935 - 103618643 on Build GRCh38	Loss	AMY2A
dgv394n54	Chr.1:103560435 - 103640666 on Build GRCh38	Gain	ACTG1P4 AMY2A AMY2B
nsv830915	Chr.1:103482208 - 103750660 on Build GRCh38	Gain+Loss	ACTG1P4 AMY2A LOC101928436 AMY1A RNPC3 AMY2B AMY1C AMY1B
nsv547022	Chr.1:103601627 - 103629022 on Build GRCh38	Gain	AMY2A
dgv1n31	Chr.1:103616658 - 103667879 on Build GRCh38	Gain	AMY2A AMY1A
nsv946109	Chr.1:103614411 - 103633444 on Build GRCh38	Duplication	AMY2A
esv23292	Chr.1:103561064 - 103774396 on Build GRCh38	Gain+Loss	ACTG1P4 AMY2A AMY1A AMY2B AMY1C AMY1B
nsv517215	Chr.1:103563013 - 103800276 on Build GRCh38	Gain+Loss	ACTG1P4 AMY2A AMY1A AMY2B AMY1C AMY1B
nsv482048	Chr.1:103617377 - 103625771 on Build GRCh38	Gain	AMY2A
dgv219n100	Chr.1:103585702 - 103718572 on Build GRCh38	Loss	AMY2A AMY1A AMY1B
dgv68e212	Chr.1:103560182 - 103764609 on Build GRCh38	Gain	ACTG1P4 AMY2A AMY1A AMY2B AMY1C AMY1B
nsv950526	Chr.1:103602579 - 103676978 on Build GRCh38	Duplication	AMY2A AMY1A
nsv2176	Chr.1:103584383 - 103717861 on Build GRCh38	Deletion	AMY2A AMY1A AMY1B
esv33927	Chr.1:103562348 - 103621111 on Build GRCh38	Gain	ACTG1P4 AMY2A AMY2B
dgv3n14	Chr.1:103589135 - 103760817 on Build GRCh38	Loss	AMY2A AMY1A AMY1C AMY1B
nsv547042	Chr.1:103611144 - 103624903 on Build GRCh38	Loss	AMY2A
dgv58n67	Chr.1:103618074 - 103668434 on Build GRCh38	Gain	AMY2A AMY1A
dgv418n54	Chr.1:103611243 - 103630590 on Build GRCh38	Gain	AMY2A
dgv218n100	Chr.1:103556018 - 103725588 on Build GRCh38	Gain	ACTG1P4 AMY2A AMY1A AMY2B AMY1B
dgv412n54	Chr.1:103610478 - 103755245 on Build GRCh38	Gain+Loss	AMY2A AMY1A AMY1C AMY1B
dgv400n54	Chr.1:103579934 - 103644686 on Build GRCh38	Loss	AMY2A
nsv547089	Chr.1:103612655 - 103618643 on Build GRCh38	Gain	AMY2A
dgv401n54	Chr.1:103583972 - 103760817 on Build GRCh38	Loss	AMY2A AMY1A AMY1C AMY1B
nsv10428	Chr.1:103560606 - 103764036 on Build GRCh38	Gain+Loss	ACTG1P4 AMY2A AMY1A AMY2B AMY1C AMY1B
dgv226n100	Chr.1:103614527 - 103766510 on Build GRCh38	Loss	AMY2A AMY1A AMY1C AMY1B

More Information

Additional Information:

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

Panther Classification:

Molecular Function -

amylase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
carbohydrate catabolic process
polysaccharide digestion

Function(s)

alpha-amylase activity
calcium ion binding
chloride ion binding