Canonical Allele Identifier: CA1039304

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 497629
• ClinVar RCV Id: RCV000591336 ; RCV002532381 ; RCV003905515
• dbSNP Id: rs587654671
• ExAC: 1:120458146 C / T
• gnomAD v2: 1-120458146-C-T
• gnomAD v3: 1-119915523-C-T
• gnomAD v4: 1-119915523-C-T
• MyVariant Identifiers: chr1:g.120458146C>T (hg19) ; chr1:g.119915523C>T (hg38)
• PubMed: PMID:27479907

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119915523C>T , CM000663.2:g.119915523C>T	GRCh38
NC_000001.10:g.120458146C>T , CM000663.1:g.120458146C>T	GRCh37
NC_000001.9:g.120259669C>T	NCBI36
NG_008163.1:g.159131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.7199G>A MANE Select	ENSP00000256646.2:p.Arg2400Gln
ENST00000256646.6:c.7199G>A	ENSP00000256646.2:p.Arg2400Gln
NM_024408.3:c.7199G>A	NP_077719.2:p.Arg2400Gln
XM_005270901.2:c.7082G>A	XP_005270958.1:p.Arg2361Gln
XM_011541519.1:c.7187G>A	XP_011539821.1:p.Arg2396Gln
XM_011541520.1:c.7082G>A	XP_011539822.1:p.Arg2361Gln
NM_024408.4:c.7199G>A MANE Select	NP_077719.2:p.Arg2400Gln