Canonical Allele Identifier: CA341872246

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 1930385
• ClinVar RCV Id: RCV002618891
• MyVariant Identifiers: chr1:g.120458076G>T (hg19) ; chr1:g.119915453G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119915453G>T , CM000663.2:g.119915453G>T	GRCh38
NC_000001.10:g.120458076G>T , CM000663.1:g.120458076G>T	GRCh37
NC_000001.9:g.120259599G>T	NCBI36
NG_008163.1:g.159201C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.7269C>A MANE Select	ENSP00000256646.2:p.Asp2423Glu
ENST00000256646.6:c.7269C>A	ENSP00000256646.2:p.Asp2423Glu
NM_024408.3:c.7269C>A	NP_077719.2:p.Asp2423Glu
XM_005270901.2:c.7152C>A	XP_005270958.1:p.Asp2384Glu
XM_011541519.1:c.7257C>A	XP_011539821.1:p.Asp2419Glu
XM_011541520.1:c.7152C>A	XP_011539822.1:p.Asp2384Glu
NM_024408.4:c.7269C>A MANE Select	NP_077719.2:p.Asp2423Glu