Canonical Allele Identifier: CA341872777

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 518450
• ClinVar RCV Id: RCV000617014 ; RCV002508237
• dbSNP Id: rs1325403451
• gnomAD v2: 1-120458147-G-A
• gnomAD v4: 1-119915524-G-A
• COSMIC: COSM36210
• MyVariant Identifiers: chr1:g.120458147G>A (hg19) ; chr1:g.119915524G>A (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119915524G>A , CM000663.2:g.119915524G>A	GRCh38
NC_000001.10:g.120458147G>A , CM000663.1:g.120458147G>A	GRCh37
NC_000001.9:g.120259670G>A	NCBI36
NG_008163.1:g.159130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.7198C>T MANE Select	ENSP00000256646.2:p.Arg2400Ter
ENST00000256646.6:c.7198C>T	ENSP00000256646.2:p.Arg2400Ter
NM_024408.3:c.7198C>T	NP_077719.2:p.Arg2400Ter
XM_005270901.2:c.7081C>T	XP_005270958.1:p.Arg2361Ter
XM_011541519.1:c.7186C>T	XP_011539821.1:p.Arg2396Ter
XM_011541520.1:c.7081C>T	XP_011539822.1:p.Arg2361Ter
NM_024408.4:c.7198C>T MANE Select	NP_077719.2:p.Arg2400Ter