Canonical Allele Identifier: CA1039518

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 502600
• ClinVar RCV Id: RCV000593702 ; RCV001510722
• dbSNP Id: rs774867522
• ExAC: 1:120460278 C / A
• gnomAD v2: 1-120460278-C-A
• gnomAD v3: 1-119917655-C-A
• gnomAD v4: 1-119917655-C-A
• MyVariant Identifiers: chr1:g.120460278C>A (hg19) ; chr1:g.119917655C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119917655C>A , CM000663.2:g.119917655C>A	GRCh38
NC_000001.10:g.120460278C>A , CM000663.1:g.120460278C>A	GRCh37
NC_000001.9:g.120261801C>A	NCBI36
NG_008163.1:g.156999G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.6027+10G>T MANE Select	ENSP00000256646.2:n.6027+10G>T
ENST00000256646.6:c.6027+10G>T	ENSP00000256646.2:n.6027+10G>T
NM_024408.3:c.6027+10G>T	NP_077719.2:n.6027+10G>T
XM_005270901.2:c.5910+10G>T	XP_005270958.1:n.5910+10G>T
XM_011541519.1:c.6015+10G>T	XP_011539821.1:n.6015+10G>T
XM_011541520.1:c.5910+10G>T	XP_011539822.1:n.5910+10G>T
NM_024408.4:c.6027+10G>T MANE Select	NP_077719.2:n.6027+10G>T