Canonical Allele Identifier: CA1039716

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 500861
• ClinVar RCV Id: RCV000593654 ; RCV002065169
• dbSNP Id: rs761415665
• ExAC: 1:120464949 G / A
• gnomAD v2: 1-120464949-G-A
• gnomAD v3: 1-119922326-G-A
• gnomAD v4: 1-119922326-G-A
• COSMIC: COSM4422818
• MyVariant Identifiers: chr1:g.120464949G>A (hg19) ; chr1:g.119922326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119922326G>A , CM000663.2:g.119922326G>A	GRCh38
NC_000001.10:g.120464949G>A , CM000663.1:g.120464949G>A	GRCh37
NC_000001.9:g.120266472G>A	NCBI36
NG_008163.1:g.152328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.5123C>T MANE Select	ENSP00000256646.2:p.Ser1708Phe
ENST00000256646.6:c.5123C>T	ENSP00000256646.2:p.Ser1708Phe
NM_024408.3:c.5123C>T	NP_077719.2:p.Ser1708Phe
XM_005270901.2:c.5006C>T	XP_005270958.1:p.Ser1669Phe
XM_011541519.1:c.5111C>T	XP_011539821.1:p.Ser1704Phe
XM_011541520.1:c.5006C>T	XP_011539822.1:p.Ser1669Phe
NM_024408.4:c.5123C>T MANE Select	NP_077719.2:p.Ser1708Phe