Canonical Allele Identifier: CA1039502

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 288194
• ClinVar RCV Id: RCV000318641 ; RCV003633495 ; RCV003977798
• dbSNP Id: rs372465730
• ExAC: 1:120459321 C / T
• gnomAD v2: 1-120459321-C-T
• gnomAD v3: 1-119916698-C-T
• gnomAD v4: 1-119916698-C-T
• MyVariant Identifiers: chr1:g.120459321C>T (hg19) ; chr1:g.119916698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119916698C>T , CM000663.2:g.119916698C>T	GRCh38
NC_000001.10:g.120459321C>T , CM000663.1:g.120459321C>T	GRCh37
NC_000001.9:g.120260844C>T	NCBI36
NG_008163.1:g.157956G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.6028-4G>A MANE Select	ENSP00000256646.2:n.6028-4G>A
ENST00000256646.6:c.6028-4G>A	ENSP00000256646.2:n.6028-4G>A
NM_024408.3:c.6028-4G>A	NP_077719.2:n.6028-4G>A
XM_005270901.2:c.5911-4G>A	XP_005270958.1:n.5911-4G>A
XM_011541519.1:c.6016-4G>A	XP_011539821.1:n.6016-4G>A
XM_011541520.1:c.5911-4G>A	XP_011539822.1:n.5911-4G>A
NM_024408.4:c.6028-4G>A MANE Select	NP_077719.2:n.6028-4G>A