Canonical Allele Identifier: CA352174

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 223003
• ClinVar RCV Id: RCV000208622 ; RCV000638604
• dbSNP Id: rs771237928
• ExAC: 1:120458435 T / TG
• COSMIC: COSM329067 ; COSM6205788
• MyVariant Identifiers: chr1:g.120458436dupG (hg19) ; chr1:g.120458435_120458436insG (hg19) ; chr1:g.119915813dupG (hg38) ; chr1:g.119915812_119915813insG (hg38)
• PubMed: PMID:22891273 ; PMID:22891276 ; PMID:27148583

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119915818dup , CM000663.2:g.119915818dup	GRCh38
NC_000001.10:g.120458441dup , CM000663.1:g.120458441dup	GRCh37
NC_000001.9:g.120259964dup	NCBI36
NG_008163.1:g.158841dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.6909dup MANE Select	ENSP00000256646.2:p.Ile2304HisfsTer9
ENST00000256646.6:c.6909dup	ENSP00000256646.2:p.Ile2304HisfsTer9
NM_024408.3:c.6909dup	NP_077719.2:p.Ile2304HisfsTer9
XM_005270901.2:c.6792dup	XP_005270958.1:p.Ile2265HisfsTer9
XM_011541519.1:c.6897dup	XP_011539821.1:p.Ile2300HisfsTer9
XM_011541520.1:c.6792dup	XP_011539822.1:p.Ile2265HisfsTer9
NM_024408.4:c.6909dup MANE Select	NP_077719.2:p.Ile2304HisfsTer9