Canonical Allele Identifier: CA1040367
Gene: NOTCH2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.119955063T>G
GRCh37 chr1:g.120497686T>G
gnomAD v2:
1:120497686 T / G
gnomAD v3:
1:119955063 T / G
gnomAD v4:
chr1-119955063-T-G
Joint Max Group AF 0.00005875 (NFE)
Genomes Max Group AF 0.00005843 (NFE)
Exomes Max Group AF 0.00005597 (NFE)
ClinVar Allele:
249383
ClinVar RCV:
RCV000244994
RCV000726704
RCV002058328
ClinVar Variation:
261699
dbSNP:
782101275
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119955063T>G , CM000663.2:g.119955063T>G GRCh38
NC_000001.10:g.120497686T>G , CM000663.1:g.120497686T>G GRCh37
NC_000001.9:g.120299209T>G NCBI36
NG_008163.1:g.119591A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.2196A>C MANE Select ENSP00000256646.2:p.Gly732=
ENST00000640021.1:c.1416A>C ENSP00000492223.1:n.1416A>C
ENST00000256646.6:c.2196A>C ENSP00000256646.2:p.Gly732=
ENST00000479412.2:n.2334A>C
ENST00000579475.7:c.2079A>C ENSP00000477065.2:p.Gly693=
NM_001200001.1:c.2196A>C NP_001186930.1:p.Gly732=
NM_024408.3:c.2196A>C NP_077719.2:p.Gly732=
XM_005270901.2:c.2079A>C XP_005270958.1:p.Gly693=
XM_011541519.1:c.2184A>C XP_011539821.1:p.Gly728=
XM_011541520.1:c.2079A>C XP_011539822.1:p.Gly693=
NM_024408.4:c.2196A>C MANE Select NP_077719.2:p.Gly732=
NM_001200001.2:c.2196A>C NP_001186930.1:p.Gly732=
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