Canonical Allele Identifier: CA1039278

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 499063
• ClinVar RCV Id: RCV000596545 ; RCV002532443
• dbSNP Id: rs759456867
• ExAC: 1:120457977 C / T
• gnomAD v2: 1-120457977-C-T
• gnomAD v3: 1-119915354-C-T
• gnomAD v4: 1-119915354-C-T
• MyVariant Identifiers: chr1:g.120457977C>T (hg19) ; chr1:g.119915354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119915354C>T , CM000663.2:g.119915354C>T	GRCh38
NC_000001.10:g.120457977C>T , CM000663.1:g.120457977C>T	GRCh37
NC_000001.9:g.120259500C>T	NCBI36
NG_008163.1:g.159300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.7368G>A MANE Select	ENSP00000256646.2:p.Gly2456=
ENST00000256646.6:c.7368G>A	ENSP00000256646.2:p.Gly2456=
NM_024408.3:c.7368G>A	NP_077719.2:p.Gly2456=
XM_005270901.2:c.7251G>A	XP_005270958.1:p.Gly2417=
XM_011541519.1:c.7356G>A	XP_011539821.1:p.Gly2452=
XM_011541520.1:c.7251G>A	XP_011539822.1:p.Gly2417=
NM_024408.4:c.7368G>A MANE Select	NP_077719.2:p.Gly2456=