Canonical Allele Identifier: CA161291

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 134982
• ClinVar RCV Id: RCV000121732 ; RCV000729463 ; RCV002483225 ; RCV002517602
• dbSNP Id: rs587778578
• ExAC: 1:120458366 T / C
• gnomAD v2: 1-120458366-T-C
• gnomAD v3: 1-119915743-T-C
• gnomAD v4: 1-119915743-T-C
• MyVariant Identifiers: chr1:g.120458366T>C (hg19) ; chr1:g.119915743T>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119915743T>C , CM000663.2:g.119915743T>C	GRCh38
NC_000001.10:g.120458366T>C , CM000663.1:g.120458366T>C	GRCh37
NC_000001.9:g.120259889T>C	NCBI36
NG_008163.1:g.158911A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.6979A>G MANE Select	ENSP00000256646.2:p.Thr2327Ala
ENST00000256646.6:c.6979A>G	ENSP00000256646.2:p.Thr2327Ala
NM_024408.3:c.6979A>G	NP_077719.2:p.Thr2327Ala
XM_005270901.2:c.6862A>G	XP_005270958.1:p.Thr2288Ala
XM_011541519.1:c.6967A>G	XP_011539821.1:p.Thr2323Ala
XM_011541520.1:c.6862A>G	XP_011539822.1:p.Thr2288Ala
NM_024408.4:c.6979A>G MANE Select	NP_077719.2:p.Thr2327Ala