Canonical Allele Identifier: CA1039719

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 497612
• ClinVar RCV Id: RCV000594137 ; RCV002062009
• dbSNP Id: rs201233415
• ExAC: 1:120464969 T / C
• gnomAD v2: 1-120464969-T-C
• gnomAD v3: 1-119922346-T-C
• gnomAD v4: 1-119922346-T-C
• MyVariant Identifiers: chr1:g.120464969T>C (hg19) ; chr1:g.119922346T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119922346T>C , CM000663.2:g.119922346T>C	GRCh38
NC_000001.10:g.120464969T>C , CM000663.1:g.120464969T>C	GRCh37
NC_000001.9:g.120266492T>C	NCBI36
NG_008163.1:g.152308A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.5103A>G MANE Select	ENSP00000256646.2:p.Lys1701=
ENST00000256646.6:c.5103A>G	ENSP00000256646.2:p.Lys1701=
NM_024408.3:c.5103A>G	NP_077719.2:p.Lys1701=
XM_005270901.2:c.4986A>G	XP_005270958.1:p.Lys1662=
XM_011541519.1:c.5091A>G	XP_011539821.1:p.Lys1697=
XM_011541520.1:c.4986A>G	XP_011539822.1:p.Lys1662=
NM_024408.4:c.5103A>G MANE Select	NP_077719.2:p.Lys1701=