Canonical Allele Identifier: CA1039360

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 291198
• ClinVar RCV Id: RCV000405161 ; RCV000764961 ; RCV002061146 ; RCV003422203
• dbSNP Id: rs140832430
• ExAC: 1:120458452 C / T
• gnomAD v2: 1-120458452-C-T
• gnomAD v3: 1-119915829-C-T
• gnomAD v4: 1-119915829-C-T
• MyVariant Identifiers: chr1:g.120458452C>T (hg19) ; chr1:g.119915829C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119915829C>T , CM000663.2:g.119915829C>T	GRCh38
NC_000001.10:g.120458452C>T , CM000663.1:g.120458452C>T	GRCh37
NC_000001.9:g.120259975C>T	NCBI36
NG_008163.1:g.158825G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.6893G>A MANE Select	ENSP00000256646.2:p.Arg2298Gln
ENST00000256646.6:c.6893G>A	ENSP00000256646.2:p.Arg2298Gln
NM_024408.3:c.6893G>A	NP_077719.2:p.Arg2298Gln
XM_005270901.2:c.6776G>A	XP_005270958.1:p.Arg2259Gln
XM_011541519.1:c.6881G>A	XP_011539821.1:p.Arg2294Gln
XM_011541520.1:c.6776G>A	XP_011539822.1:p.Arg2259Gln
NM_024408.4:c.6893G>A MANE Select	NP_077719.2:p.Arg2298Gln