Canonical Allele Identifier: CA161257

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 134965
• ClinVar RCV Id: RCV000121715 ; RCV000725834 ; RCV000764962 ; RCV002515888 ; RCV003892113
• dbSNP Id: rs146014987
• ExAC: 1:120480611 C / T
• gnomAD v2: 1-120480611-C-T
• gnomAD v3: 1-119937988-C-T
• gnomAD v4: 1-119937988-C-T
• MyVariant Identifiers: chr1:g.120480611C>T (hg19) ; chr1:g.119937988C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119937988C>T , CM000663.2:g.119937988C>T	GRCh38
NC_000001.10:g.120480611C>T , CM000663.1:g.120480611C>T	GRCh37
NC_000001.9:g.120282134C>T	NCBI36
NG_008163.1:g.136666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.3206G>A MANE Select	ENSP00000256646.2:p.Arg1069Gln
ENST00000256646.6:c.3206G>A	ENSP00000256646.2:p.Arg1069Gln
NM_001200001.1:c.3206G>A	NP_001186930.1:p.Arg1069Gln
NM_024408.3:c.3206G>A	NP_077719.2:p.Arg1069Gln
XM_005270901.2:c.3089G>A	XP_005270958.1:p.Arg1030Gln
XM_011541519.1:c.3194G>A	XP_011539821.1:p.Arg1065Gln
XM_011541520.1:c.3089G>A	XP_011539822.1:p.Arg1030Gln
NM_024408.4:c.3206G>A MANE Select	NP_077719.2:p.Arg1069Gln
NM_001200001.2:c.3206G>A	NP_001186930.1:p.Arg1069Gln