Canonical Allele Identifier: CA1040115

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 498958
• ClinVar RCV Id: RCV000597289 ; RCV002062034
• dbSNP Id: rs368918146
• ExAC: 1:120480582 C / T
• gnomAD v2: 1-120480582-C-T
• gnomAD v3: 1-119937959-C-T
• gnomAD v4: 1-119937959-C-T
• MyVariant Identifiers: chr1:g.120480582C>T (hg19) ; chr1:g.119937959C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119937959C>T , CM000663.2:g.119937959C>T	GRCh38
NC_000001.10:g.120480582C>T , CM000663.1:g.120480582C>T	GRCh37
NC_000001.9:g.120282105C>T	NCBI36
NG_008163.1:g.136695G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.3235G>A MANE Select	ENSP00000256646.2:p.Val1079Ile
ENST00000256646.6:c.3235G>A	ENSP00000256646.2:p.Val1079Ile
NM_001200001.1:c.3235G>A	NP_001186930.1:p.Val1079Ile
NM_024408.3:c.3235G>A	NP_077719.2:p.Val1079Ile
XM_005270901.2:c.3118G>A	XP_005270958.1:p.Val1040Ile
XM_011541519.1:c.3223G>A	XP_011539821.1:p.Val1075Ile
XM_011541520.1:c.3118G>A	XP_011539822.1:p.Val1040Ile
NM_024408.4:c.3235G>A MANE Select	NP_077719.2:p.Val1079Ile
NM_001200001.2:c.3235G>A	NP_001186930.1:p.Val1079Ile