Canonical Allele Identifier: CA1039422

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 288692
• ClinVar RCV Id: RCV000374286 ; RCV002059244 ; RCV003940057
• dbSNP Id: rs145566650
• ExAC: 1:120458868 C / T
• gnomAD v2: 1-120458868-C-T
• gnomAD v3: 1-119916245-C-T
• gnomAD v4: 1-119916245-C-T
• COSMIC: COSM4021303
• MyVariant Identifiers: chr1:g.120458868C>T (hg19) ; chr1:g.119916245C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119916245C>T , CM000663.2:g.119916245C>T	GRCh38
NC_000001.10:g.120458868C>T , CM000663.1:g.120458868C>T	GRCh37
NC_000001.9:g.120260391C>T	NCBI36
NG_008163.1:g.158409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.6477G>A MANE Select	ENSP00000256646.2:p.Thr2159=
ENST00000256646.6:c.6477G>A	ENSP00000256646.2:p.Thr2159=
NM_024408.3:c.6477G>A	NP_077719.2:p.Thr2159=
XM_005270901.2:c.6360G>A	XP_005270958.1:p.Thr2120=
XM_011541519.1:c.6465G>A	XP_011539821.1:p.Thr2155=
XM_011541520.1:c.6360G>A	XP_011539822.1:p.Thr2120=
NM_024408.4:c.6477G>A MANE Select	NP_077719.2:p.Thr2159=