Canonical Allele Identifier: CA16616962
Gene: NOTCH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419122
ClinVar RCV Id: RCV000481951
dbSNP Id: rs1064793660

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119925359del , CM000663.2:g.119925359del GRCh38
NC_000001.10:g.120467982del , CM000663.1:g.120467982del GRCh37
NC_000001.9:g.120269505del NCBI36
NG_008163.1:g.149295del

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.4457del MANE Select ENSP00000256646.2:p.Thr1486ArgfsTer?
ENST00000256646.6:c.4457del ENSP00000256646.2:p.Thr1486ArgfsTer?
NM_024408.3:c.4457del NP_077719.2:p.Thr1486ArgfsTer?
XM_005270901.2:c.4340del XP_005270958.1:p.Thr1447ArgfsTer?
XM_011541519.1:c.4445del XP_011539821.1:p.Thr1482ArgfsTer?
XM_011541520.1:c.4340del XP_011539822.1:p.Thr1447ArgfsTer?
NM_024408.4:c.4457del MANE Select NP_077719.2:p.Thr1486ArgfsTer?