Canonical Allele Identifier: CA340897
Gene: NOTCH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9230
ClinVar RCV Id: RCV000009811
dbSNP Id: rs111033632
MyVariant Identifiers: chr1:g.120510178C>T (hg19) chr1:g.119967555C>T (hg38)
PubMed: PMID:16773578 PMID:20301450
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119967555C>T , CM000663.2:g.119967555C>T GRCh38
NC_000001.10:g.120510178C>T , CM000663.1:g.120510178C>T GRCh37
NC_000001.9:g.120311701C>T NCBI36
NG_008163.1:g.107099G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.1331G>A MANE Select ENSP00000256646.2:p.Cys444Tyr
ENST00000640021.1:c.551G>A ENSP00000492223.1:n.551G>A
ENST00000256646.6:c.1331G>A ENSP00000256646.2:p.Cys444Tyr
ENST00000479412.2:n.1469G>A
ENST00000579475.7:c.1214G>A ENSP00000477065.2:p.Cys405Tyr
NM_001200001.1:c.1331G>A NP_001186930.1:p.Cys444Tyr
NM_024408.3:c.1331G>A NP_077719.2:p.Cys444Tyr
XM_005270901.2:c.1214G>A XP_005270958.1:p.Cys405Tyr
XM_011541519.1:c.1319G>A XP_011539821.1:p.Cys440Tyr
XM_011541520.1:c.1214G>A XP_011539822.1:p.Cys405Tyr
NM_024408.4:c.1331G>A MANE Select NP_077719.2:p.Cys444Tyr
NM_001200001.2:c.1331G>A NP_001186930.1:p.Cys444Tyr
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