Hs03367222_cn

• Gene Symbol: AMY2B
• Assay Reference Genome Location: Chr.1:103560608 on build GRCh38
• Cytoband: 1p21.1

Target Gene Details

• Entrez Gene ID: 280
• Gene Name: amylase, alpha 2B (pancreatic)
• Gene Aliases: AMY2, AMY3, HXA
• Location: Chr.1:103554644-103579534 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMY2B	NM_020978.4			NP_066188.1
	AK095605.1
	BC011179.1			AAH11179.1
	BX456665.2
	DA157436.1
	DB235608.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1161038	Chr.1:103560608 - 103613021 on Build GRCh38	Duplication	ACTG1P4 AMY2B
nsv526367	Chr.1:103477009 - 103787255 on Build GRCh38	Gain	ACTG1P4 AMY1A LOC101928436 AMY2B AMY2A RNPC3 AMY1C AMY1B
dgv68e212	Chr.1:103560182 - 103764609 on Build GRCh38	Gain	ACTG1P4 AMY1A AMY2B AMY2A AMY1C AMY1B
dgv2e203	Chr.1:103556030 - 103761017 on Build GRCh38	Gain+Loss	ACTG1P4 AMY1A AMY2B AMY2A AMY1C AMY1B
esv3583026	Chr.1:103524036 - 103589563 on Build GRCh38	Gain	ACTG1P4 LOC101928436 AMY2B RNPC3
nsv523177	Chr.1:103500563 - 103586151 on Build GRCh38	Gain	ACTG1P4 LOC101928436 AMY2B RNPC3
esv3893856	Chr.1:103555093 - 103755245 on Build GRCh38	Gain+Loss	ACTG1P4 AMY1A AMY2B AMY2A RNPC3 AMY1C AMY1B
dgv35e214	Chr.1:103560121 - 103594054 on Build GRCh38	Gain	ACTG1P4 AMY2B
dgv218n100	Chr.1:103556018 - 103725588 on Build GRCh38	Gain	ACTG1P4 AMY1A AMY2B AMY2A AMY1B
dgv213n100	Chr.1:103458409 - 103725588 on Build GRCh38	Gain	ACTG1P4 AMY1A LOC101928436 AMY2B AMY2A RNPC3 AMY1B
nsv830904	Chr.1:103393009 - 103564563 on Build GRCh38	Loss	LOC101928436 AMY2B RNPC3
dgv14n21	Chr.1:103374133 - 103586151 on Build GRCh38	Gain	ACTG1P4 LOC101928436 AMY2B RNPC3
nsv428157	Chr.1:103447737 - 103909380 on Build GRCh38	Gain+Loss	ACTG1P4 AMY1A LOC101928436 AMY2B AMY2A RNPC3 AMY1C AMY1B
nsv511132	Chr.1:103560435 - 103595478 on Build GRCh38	Gain	ACTG1P4 AMY2B
nsv830915	Chr.1:103482208 - 103750660 on Build GRCh38	Gain+Loss	ACTG1P4 AMY1A LOC101928436 AMY2B AMY2A RNPC3 AMY1C AMY1B
nsv10428	Chr.1:103560606 - 103764036 on Build GRCh38	Gain+Loss	ACTG1P4 AMY1A AMY2B AMY2A AMY1C AMY1B

More Information

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

Panther Classification:

Molecular Function -

amylase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
digestion

Function(s)

alpha-amylase activity
metal ion binding