Canonical Allele Identifier: CA1039615

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 500794
• ClinVar RCV Id: RCV000593612 ; RCV002532549
• dbSNP Id: rs368724241
• ExAC: 1:120462243 G / A
• gnomAD v2: 1-120462243-G-A
• gnomAD v3: 1-119919620-G-A
• gnomAD v4: 1-119919620-G-A
• MyVariant Identifiers: chr1:g.120462243G>A (hg19) ; chr1:g.119919620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119919620G>A , CM000663.2:g.119919620G>A	GRCh38
NC_000001.10:g.120462243G>A , CM000663.1:g.120462243G>A	GRCh37
NC_000001.9:g.120263766G>A	NCBI36
NG_008163.1:g.155034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.5480-7C>T MANE Select	ENSP00000256646.2:n.5480-7C>T
ENST00000256646.6:c.5480-7C>T	ENSP00000256646.2:n.5480-7C>T
NM_024408.3:c.5480-7C>T	NP_077719.2:n.5480-7C>T
XM_005270901.2:c.5363-7C>T	XP_005270958.1:n.5363-7C>T
XM_011541519.1:c.5468-7C>T	XP_011539821.1:n.5468-7C>T
XM_011541520.1:c.5363-7C>T	XP_011539822.1:n.5363-7C>T
NM_024408.4:c.5480-7C>T MANE Select	NP_077719.2:n.5480-7C>T