Canonical Allele Identifier: CA1039529

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 498173
• ClinVar RCV Id: RCV000593446 ; RCV002532406
• dbSNP Id: rs563486507
• ExAC: 1:120460357 A / G
• gnomAD v2: 1-120460357-A-G
• gnomAD v3: 1-119917734-A-G
• gnomAD v4: 1-119917734-A-G
• MyVariant Identifiers: chr1:g.120460357A>G (hg19) ; chr1:g.119917734A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119917734A>G , CM000663.2:g.119917734A>G	GRCh38
NC_000001.10:g.120460357A>G , CM000663.1:g.120460357A>G	GRCh37
NC_000001.9:g.120261880A>G	NCBI36
NG_008163.1:g.156920T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.5958T>C MANE Select	ENSP00000256646.2:p.Ala1986=
ENST00000256646.6:c.5958T>C	ENSP00000256646.2:p.Ala1986=
NM_024408.3:c.5958T>C	NP_077719.2:p.Ala1986=
XM_005270901.2:c.5841T>C	XP_005270958.1:p.Ala1947=
XM_011541519.1:c.5946T>C	XP_011539821.1:p.Ala1982=
XM_011541520.1:c.5841T>C	XP_011539822.1:p.Ala1947=
NM_024408.4:c.5958T>C MANE Select	NP_077719.2:p.Ala1986=