{{Rsnum
|rsid=312262796
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=NOTCH2
|position=119918478
|Gene_s=NOTCH2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=1
|CLNACC=RCV000034164.2
|CLNALLE=1
|CLNDBN=Alagille syndrome 2
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1273:C1857761:610205:ORPHA52
|CLNHGVS=NC_000001.11:g.119918478G>A
|CLNSIG=5
|CLNSRC=ClinVar; GeneReviews
|CLNSRCID=NM_024408.3:c.5857C>T; NBK1273
|Disease=Alagille syndrome 2
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=119918478
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050160000a05000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=312262796
|GENEINFO=NOTCH2:4853
|GENE_ID=4853
|GENE_NAME=NOTCH2
|CLNORIGIN=0
}}