Canonical Allele Identifier: CA1040594
Gene: NOTCH2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.119968096A>G
GRCh37 chr1:g.120510719A>G
gnomAD v2:
1:120510719 A / G
gnomAD v3:
1:119968096 A / G
gnomAD v4:
chr1-119968096-A-G
Joint Max Group AF 0.00004284 (AMR)
Exomes Max Group AF 0.00004358 (AMR)
ClinVar Allele:
489380
ClinVar RCV:
RCV000597244
RCV002065146
ClinVar Variation:
497956
dbSNP:
782057759
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119968096A>G , CM000663.2:g.119968096A>G GRCh38
NC_000001.10:g.120510719A>G , CM000663.1:g.120510719A>G GRCh37
NC_000001.9:g.120312242A>G NCBI36
NG_008163.1:g.106558T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.1245T>C MANE Select ENSP00000256646.2:p.Asp415=
ENST00000640021.1:c.465T>C ENSP00000492223.1:n.465T>C
ENST00000256646.6:c.1245T>C ENSP00000256646.2:p.Asp415=
ENST00000479412.2:n.1383T>C
ENST00000579475.7:c.1128T>C ENSP00000477065.2:p.Asp376=
NM_001200001.1:c.1245T>C NP_001186930.1:p.Asp415=
NM_024408.3:c.1245T>C NP_077719.2:p.Asp415=
XM_005270901.2:c.1128T>C XP_005270958.1:p.Asp376=
XM_011541519.1:c.1233T>C XP_011539821.1:p.Asp411=
XM_011541520.1:c.1128T>C XP_011539822.1:p.Asp376=
NM_024408.4:c.1245T>C MANE Select NP_077719.2:p.Asp415=
NM_001200001.2:c.1245T>C NP_001186930.1:p.Asp415=
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