Canonical Allele Identifier: CA1039439

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 291023
• ClinVar RCV Id: RCV000301106 ; RCV001820842 ; RCV001859732 ; RCV003957526
• dbSNP Id: rs144047610
• ExAC: 1:120458982 C / G
• gnomAD v2: 1-120458982-C-G
• gnomAD v3: 1-119916359-C-G
• gnomAD v4: 1-119916359-C-G
• MyVariant Identifiers: chr1:g.120458982C>G (hg19) ; chr1:g.119916359C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119916359C>G , CM000663.2:g.119916359C>G	GRCh38
NC_000001.10:g.120458982C>G , CM000663.1:g.120458982C>G	GRCh37
NC_000001.9:g.120260505C>G	NCBI36
NG_008163.1:g.158295G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.6363G>C MANE Select	ENSP00000256646.2:p.Lys2121Asn
ENST00000256646.6:c.6363G>C	ENSP00000256646.2:p.Lys2121Asn
NM_024408.3:c.6363G>C	NP_077719.2:p.Lys2121Asn
XM_005270901.2:c.6246G>C	XP_005270958.1:p.Lys2082Asn
XM_011541519.1:c.6351G>C	XP_011539821.1:p.Lys2117Asn
XM_011541520.1:c.6246G>C	XP_011539822.1:p.Lys2082Asn
NM_024408.4:c.6363G>C MANE Select	NP_077719.2:p.Lys2121Asn