Canonical Allele Identifier: CA1040640
Gene: NOTCH2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.119969663T>C
GRCh37 chr1:g.120512286T>C
Revel Score:
ENST00000256646 (MANE Select) 0.257
ENST00000539617 0.257
gnomAD v2:
1:120512286 T / C
gnomAD v3:
1:119969663 T / C
gnomAD v4:
chr1-119969663-T-C
Joint Max Group AF 0.00012741 (AMR)
Genomes Max Group AF 0.00006828 (EAS)
Exomes Max Group AF 0.00015445 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119969663T>C , CM000663.2:g.119969663T>C GRCh38
NC_000001.10:g.120512286T>C , CM000663.1:g.120512286T>C GRCh37
NC_000001.9:g.120313809T>C NCBI36
NG_008163.1:g.104991A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.956A>G MANE Select ENSP00000256646.2:p.Asn319Ser
ENST00000640021.1:c.176A>G ENSP00000492223.1:n.176A>G
ENST00000256646.6:c.956A>G ENSP00000256646.2:p.Asn319Ser
ENST00000479412.2:n.1094A>G
ENST00000579475.7:c.839A>G ENSP00000477065.2:p.Asn280Ser
NM_001200001.1:c.956A>G NP_001186930.1:p.Asn319Ser
NM_024408.3:c.956A>G NP_077719.2:p.Asn319Ser
XM_005270901.2:c.839A>G XP_005270958.1:p.Asn280Ser
XM_011541519.1:c.944A>G XP_011539821.1:p.Asn315Ser
XM_011541520.1:c.839A>G XP_011539822.1:p.Asn280Ser
NM_024408.4:c.956A>G MANE Select NP_077719.2:p.Asn319Ser
NM_001200001.2:c.956A>G NP_001186930.1:p.Asn319Ser
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