Canonical Allele Identifier: CA244741

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 196924
• ClinVar RCV Id: RCV000177811 ; RCV002516755 ; RCV003947508
• dbSNP Id: rs771638958
• ExAC: 1:120457932 C / T
• gnomAD v2: 1-120457932-C-T
• gnomAD v3: 1-119915309-C-T
• gnomAD v4: 1-119915309-C-T
• MyVariant Identifiers: chr1:g.120457932C>T (hg19) ; chr1:g.119915309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119915309C>T , CM000663.2:g.119915309C>T	GRCh38
NC_000001.10:g.120457932C>T , CM000663.1:g.120457932C>T	GRCh37
NC_000001.9:g.120259455C>T	NCBI36
NG_008163.1:g.159345G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.7413G>A MANE Select	ENSP00000256646.2:p.Ala2471=
ENST00000256646.6:c.7413G>A	ENSP00000256646.2:p.Ala2471=
NM_024408.3:c.7413G>A	NP_077719.2:p.Ala2471=
XM_005270901.2:c.7296G>A	XP_005270958.1:p.Ala2432=
XM_011541519.1:c.7401G>A	XP_011539821.1:p.Ala2467=
XM_011541520.1:c.7296G>A	XP_011539822.1:p.Ala2432=
NM_024408.4:c.7413G>A MANE Select	NP_077719.2:p.Ala2471=