Canonical Allele Identifier: CA1040847

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 291154
• ClinVar RCV Id: RCV000378187
• dbSNP Id: rs149906722
• ExAC: 1:120539948 C / T
• gnomAD v2: 1-120539948-C-T
• gnomAD v3: 1-119997325-C-T
• gnomAD v4: 1-119997325-C-T
• MyVariant Identifiers: chr1:g.120539948C>T (hg19) ; chr1:g.119997325C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119997325C>T , CM000663.2:g.119997325C>T	GRCh38
NC_000001.10:g.120539948C>T , CM000663.1:g.120539948C>T	GRCh37
NG_008163.1:g.77329G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.423G>A MANE Select	ENSP00000256646.2:p.Glu141=
ENST00000602566.6:c.306G>A	ENSP00000473427.2:p.Glu102=
ENST00000652264.1:c.306G>A	ENSP00000499006.1:p.Glu102=
ENST00000652302.1:c.423G>A	ENSP00000499202.1:p.Glu141=
ENST00000256646.6:c.423G>A	ENSP00000256646.2:p.Glu141=
ENST00000479412.2:n.561G>A
ENST00000579475.7:c.306G>A	ENSP00000477065.2:p.Glu102=
ENST00000602566.5:c.306G>A	ENSP00000473427.1:p.Glu102=
ENST00000612822.1:c.306G>A	ENSP00000479088.1:p.Glu102=
NM_001200001.1:c.423G>A	NP_001186930.1:p.Glu141=
NM_024408.3:c.423G>A	NP_077719.2:p.Glu141=
XM_005270901.2:c.306G>A	XP_005270958.1:p.Glu102=
XM_011541519.1:c.411G>A	XP_011539821.1:p.Glu137=
XM_011541520.1:c.306G>A	XP_011539822.1:p.Glu102=
NM_024408.4:c.423G>A MANE Select	NP_077719.2:p.Glu141=
NM_001200001.2:c.423G>A	NP_001186930.1:p.Glu141=