Canonical Allele Identifier: CA1039362
Gene: NOTCH2 HGNC NCBI
ClinVar RCV:
RCV001950467
RCV002497818
RCV003913463
ClinVar Variation:
1440665
dbSNP:
780904023
gnomAD v2:
1:120458467 T / G
gnomAD v3:
1:119915844 T / G
gnomAD v4:
chr1-119915844-T-G
Joint Max Group AF 0.00005433 (AMR)
Genomes Max Group AF 0.0000226 (AMR)
Exomes Max Group AF 0.00004358 (AMR)
MyVariant.info:
GRCh38 chr1:g.119915844T>G
GRCh37 chr1:g.120458467T>G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915844T>G , CM000663.2:g.119915844T>G GRCh38
NC_000001.10:g.120458467T>G , CM000663.1:g.120458467T>G GRCh37
NC_000001.9:g.120259990T>G NCBI36
NG_008163.1:g.158810A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.6878A>C MANE Select ENSP00000256646.2:p.His2293Pro
ENST00000256646.6:c.6878A>C ENSP00000256646.2:p.His2293Pro
NM_024408.3:c.6878A>C NP_077719.2:p.His2293Pro
XM_005270901.2:c.6761A>C XP_005270958.1:p.His2254Pro
XM_011541519.1:c.6866A>C XP_011539821.1:p.His2289Pro
XM_011541520.1:c.6761A>C XP_011539822.1:p.His2254Pro
NM_024408.4:c.6878A>C MANE Select NP_077719.2:p.His2293Pro
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