Canonical Allele Identifier: CA161285

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 134979
• ClinVar RCV Id: RCV000121729 ; RCV000728639 ; RCV001497958 ; RCV003905162
• dbSNP Id: rs115013051
• ExAC: 1:120464911 C / T
• gnomAD v2: 1-120464911-C-T
• gnomAD v3: 1-119922288-C-T
• gnomAD v4: 1-119922288-C-T
• MyVariant Identifiers: chr1:g.120464911C>T (hg19) ; chr1:g.119922288C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119922288C>T , CM000663.2:g.119922288C>T	GRCh38
NC_000001.10:g.120464911C>T , CM000663.1:g.120464911C>T	GRCh37
NC_000001.9:g.120266434C>T	NCBI36
NG_008163.1:g.152366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.5161G>A MANE Select	ENSP00000256646.2:p.Ala1721Thr
ENST00000256646.6:c.5161G>A	ENSP00000256646.2:p.Ala1721Thr
NM_024408.3:c.5161G>A	NP_077719.2:p.Ala1721Thr
XM_005270901.2:c.5044G>A	XP_005270958.1:p.Ala1682Thr
XM_011541519.1:c.5149G>A	XP_011539821.1:p.Ala1717Thr
XM_011541520.1:c.5044G>A	XP_011539822.1:p.Ala1682Thr
NM_024408.4:c.5161G>A MANE Select	NP_077719.2:p.Ala1721Thr