Canonical Allele Identifier: CA242713

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 195987
• ClinVar RCV Id: RCV000176689 ; RCV000638610 ; RCV003955050
• dbSNP Id: rs367699419
• ExAC: 1:120466379 C / T
• gnomAD v2: 1-120466379-C-T
• gnomAD v3: 1-119923756-C-T
• gnomAD v4: 1-119923756-C-T
• MyVariant Identifiers: chr1:g.120466379C>T (hg19) ; chr1:g.119923756C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119923756C>T , CM000663.2:g.119923756C>T	GRCh38
NC_000001.10:g.120466379C>T , CM000663.1:g.120466379C>T	GRCh37
NC_000001.9:g.120267902C>T	NCBI36
NG_008163.1:g.150898G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.4740G>A MANE Select	ENSP00000256646.2:p.Lys1580=
ENST00000256646.6:c.4740G>A	ENSP00000256646.2:p.Lys1580=
ENST00000493703.1:n.150G>A
NM_024408.3:c.4740G>A	NP_077719.2:p.Lys1580=
XM_005270901.2:c.4623G>A	XP_005270958.1:p.Lys1541=
XM_011541519.1:c.4728G>A	XP_011539821.1:p.Lys1576=
XM_011541520.1:c.4623G>A	XP_011539822.1:p.Lys1541=
NM_024408.4:c.4740G>A MANE Select	NP_077719.2:p.Lys1580=