Canonical Allele Identifier: CA1039768

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 500754
• ClinVar RCV Id: RCV000594207 ; RCV002062075 ; RCV003952982
• dbSNP Id: rs587697719
• ExAC: 1:120465332 C / T
• gnomAD v2: 1-120465332-C-T
• gnomAD v3: 1-119922709-C-T
• gnomAD v4: 1-119922709-C-T
• COSMIC: COSM2180040
• MyVariant Identifiers: chr1:g.120465332C>T (hg19) ; chr1:g.119922709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119922709C>T , CM000663.2:g.119922709C>T	GRCh38
NC_000001.10:g.120465332C>T , CM000663.1:g.120465332C>T	GRCh37
NC_000001.9:g.120266855C>T	NCBI36
NG_008163.1:g.151945G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.4929G>A MANE Select	ENSP00000256646.2:p.Thr1643=
ENST00000256646.6:c.4929G>A	ENSP00000256646.2:p.Thr1643=
ENST00000493703.1:n.339G>A
NM_024408.3:c.4929G>A	NP_077719.2:p.Thr1643=
XM_005270901.2:c.4812G>A	XP_005270958.1:p.Thr1604=
XM_011541519.1:c.4917G>A	XP_011539821.1:p.Thr1639=
XM_011541520.1:c.4812G>A	XP_011539822.1:p.Thr1604=
NM_024408.4:c.4929G>A MANE Select	NP_077719.2:p.Thr1643=