Canonical Allele Identifier: CA1040529
Gene: NOTCH2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.119966389G>A
GRCh37 chr1:g.120509012G>A
gnomAD v2:
1:120509012 G / A
gnomAD v3:
1:119966389 G / A
gnomAD v4:
chr1-119966389-G-A
Joint Max Group AF 0.00015455 (AFR)
Genomes Max Group AF 0.0001485 (AFR)
Exomes Max Group AF 0.00009755 (AFR)
ClinVar RCV:
RCV000350930
RCV002059260
ClinVar Variation:
289328
dbSNP:
138817140
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119966389G>A , CM000663.2:g.119966389G>A GRCh38
NC_000001.10:g.120509012G>A , CM000663.1:g.120509012G>A GRCh37
NC_000001.9:g.120310535G>A NCBI36
NG_008163.1:g.108265C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.1554C>T MANE Select ENSP00000256646.2:p.Cys518=
ENST00000640021.1:c.774C>T ENSP00000492223.1:n.774C>T
ENST00000256646.6:c.1554C>T ENSP00000256646.2:p.Cys518=
ENST00000479412.2:n.1692C>T
ENST00000579475.7:c.1437C>T ENSP00000477065.2:p.Cys479=
NM_001200001.1:c.1554C>T NP_001186930.1:p.Cys518=
NM_024408.3:c.1554C>T NP_077719.2:p.Cys518=
XM_005270901.2:c.1437C>T XP_005270958.1:p.Cys479=
XM_011541519.1:c.1542C>T XP_011539821.1:p.Cys514=
XM_011541520.1:c.1437C>T XP_011539822.1:p.Cys479=
NM_024408.4:c.1554C>T MANE Select NP_077719.2:p.Cys518=
NM_001200001.2:c.1554C>T NP_001186930.1:p.Cys518=
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