AMY2A gene homepage

All AMY gene CNV haplotypes have been linked to the AMY2B gene.
General information
Gene symbol AMY2A
Gene name amylase, alpha 2A (pancreatic)
Chromosome 1
Chromosomal band p21.1
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_000699.2
Exon/intron information NM_000699.2 exon/intron table
Associated with diseases -
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) John Armour
Total number of public variants reported 10
Unique public DNA variants reported 9
Individuals with public variants 8
Hidden variants 0
Download all this gene's data Download all data
Notes All amylase gene CNV haplotypes are linked to the AMY2B gene. Haplotypes are described based on the total number of AMY1, AMY2A and AMY2B genes resp., like AMY-3-1-1 (hg19 reference haplotype).
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated January 18, 2017
Version AMY2A:170118

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000699.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/AMY2A
HGNC 477
Entrez Gene 279
PubMed articles AMY2A
OMIM - Gene 104650
HGMD AMY2A
GeneCards AMY2A
GeneTests AMY2A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002451 1 amylase, alpha 2A (pancreatic) NM_000699.2 NP_000690.1 10


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