Canonical Allele Identifier: CA1039297

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 289980
• ClinVar RCV Id: RCV000342906 ; RCV003105853 ; RCV003957512
• dbSNP Id: rs369912969
• ExAC: 1:120458082 A / T
• gnomAD v2: 1-120458082-A-T
• gnomAD v3: 1-119915459-A-T
• gnomAD v4: 1-119915459-A-T
• MyVariant Identifiers: chr1:g.120458082A>T (hg19) ; chr1:g.119915459A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119915459A>T , CM000663.2:g.119915459A>T	GRCh38
NC_000001.10:g.120458082A>T , CM000663.1:g.120458082A>T	GRCh37
NC_000001.9:g.120259605A>T	NCBI36
NG_008163.1:g.159195T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.7263T>A MANE Select	ENSP00000256646.2:p.Ser2421=
ENST00000256646.6:c.7263T>A	ENSP00000256646.2:p.Ser2421=
NM_024408.3:c.7263T>A	NP_077719.2:p.Ser2421=
XM_005270901.2:c.7146T>A	XP_005270958.1:p.Ser2382=
XM_011541519.1:c.7251T>A	XP_011539821.1:p.Ser2417=
XM_011541520.1:c.7146T>A	XP_011539822.1:p.Ser2382=
NM_024408.4:c.7263T>A MANE Select	NP_077719.2:p.Ser2421=