Canonical Allele Identifier: CA1039440

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 282549
• ClinVar RCV Id: RCV000276229 ; RCV002059111 ; RCV002519113
• dbSNP Id: rs148393324
• ExAC: 1:120458983 T / C
• gnomAD v2: 1-120458983-T-C
• gnomAD v3: 1-119916360-T-C
• gnomAD v4: 1-119916360-T-C
• MyVariant Identifiers: chr1:g.120458983T>C (hg19) ; chr1:g.119916360T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119916360T>C , CM000663.2:g.119916360T>C	GRCh38
NC_000001.10:g.120458983T>C , CM000663.1:g.120458983T>C	GRCh37
NC_000001.9:g.120260506T>C	NCBI36
NG_008163.1:g.158294A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.6362A>G MANE Select	ENSP00000256646.2:p.Lys2121Arg
ENST00000256646.6:c.6362A>G	ENSP00000256646.2:p.Lys2121Arg
NM_024408.3:c.6362A>G	NP_077719.2:p.Lys2121Arg
XM_005270901.2:c.6245A>G	XP_005270958.1:p.Lys2082Arg
XM_011541519.1:c.6350A>G	XP_011539821.1:p.Lys2117Arg
XM_011541520.1:c.6245A>G	XP_011539822.1:p.Lys2082Arg
NM_024408.4:c.6362A>G MANE Select	NP_077719.2:p.Lys2121Arg