{{Rsnum
|rsid=312262798
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=NOTCH2
|position=119917763
|Gene_s=NOTCH2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=1
|CLNACC=RCV000009810.2
|CLNALLE=1
|CLNDBN=Alagille syndrome 2
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1273:C1857761:610205:ORPHA52
|CLNHGVS=NC_000001.11:g.119917763C>T
|CLNSIG=5
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNSRCID=NM_024408.3:c.5930-1G>A; NBK1273; 600275.0001
|Disease=Alagille syndrome 2
|FwdALT=A
|FwdREF=G
|REF=C
|RSPOS=119917763
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;SLO;ASS;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050160200005000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=312262798
|GENEINFO=NOTCH2:4853
|GENE_ID=4853
|GENE_NAME=NOTCH2
|CLNORIGIN=1
}}