Canonical Allele Identifier: CA341878345

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 453174
• ClinVar RCV Id: RCV000518945
• dbSNP Id: rs781957465
• COSMIC: COSM3399612
• MyVariant Identifiers: chr1:g.120510196C>T (hg19) ; chr1:g.119967573C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119967573C>T , CM000663.2:g.119967573C>T	GRCh38
NC_000001.10:g.120510196C>T , CM000663.1:g.120510196C>T	GRCh37
NC_000001.9:g.120311719C>T	NCBI36
NG_008163.1:g.107081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.1313G>A MANE Select	ENSP00000256646.2:p.Gly438Asp
ENST00000640021.1:c.533G>A	ENSP00000492223.1:n.533G>A
ENST00000256646.6:c.1313G>A	ENSP00000256646.2:p.Gly438Asp
ENST00000479412.2:n.1451G>A
ENST00000579475.7:c.1196G>A	ENSP00000477065.2:p.Gly399Asp
NM_001200001.1:c.1313G>A	NP_001186930.1:p.Gly438Asp
NM_024408.3:c.1313G>A	NP_077719.2:p.Gly438Asp
XM_005270901.2:c.1196G>A	XP_005270958.1:p.Gly399Asp
XM_011541519.1:c.1301G>A	XP_011539821.1:p.Gly434Asp
XM_011541520.1:c.1196G>A	XP_011539822.1:p.Gly399Asp
NM_024408.4:c.1313G>A MANE Select	NP_077719.2:p.Gly438Asp
NM_001200001.2:c.1313G>A	NP_001186930.1:p.Gly438Asp