Canonical Allele Identifier: CA244745

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 196926
• ClinVar RCV Id: RCV000177813 ; RCV002054103 ; RCV003947509
• dbSNP Id: rs147522485
• ExAC: 1:120458579 G / A
• gnomAD v2: 1-120458579-G-A
• gnomAD v3: 1-119915956-G-A
• gnomAD v4: 1-119915956-G-A
• MyVariant Identifiers: chr1:g.120458579G>A (hg19) ; chr1:g.119915956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119915956G>A , CM000663.2:g.119915956G>A	GRCh38
NC_000001.10:g.120458579G>A , CM000663.1:g.120458579G>A	GRCh37
NC_000001.9:g.120260102G>A	NCBI36
NG_008163.1:g.158698C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.6766C>T MANE Select	ENSP00000256646.2:p.Arg2256Cys
ENST00000256646.6:c.6766C>T	ENSP00000256646.2:p.Arg2256Cys
NM_024408.3:c.6766C>T	NP_077719.2:p.Arg2256Cys
XM_005270901.2:c.6649C>T	XP_005270958.1:p.Arg2217Cys
XM_011541519.1:c.6754C>T	XP_011539821.1:p.Arg2252Cys
XM_011541520.1:c.6649C>T	XP_011539822.1:p.Arg2217Cys
NM_024408.4:c.6766C>T MANE Select	NP_077719.2:p.Arg2256Cys