Canonical Allele Identifier: CA2647410991
Gene: NOTCH2 HGNC NCBI

Linked Data

gnomAD v4: 1-119915550-CTG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915553_119915554del , CM000663.2:g.119915553_119915554del GRCh38
NC_000001.10:g.120458176_120458177del , CM000663.1:g.120458176_120458177del GRCh37
NC_000001.9:g.120259699_120259700del NCBI36
NG_008163.1:g.159102_159103del

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.7170_7171del MANE Select ENSP00000256646.2:p.His2390GlnfsTer9
ENST00000256646.6:c.7170_7171del ENSP00000256646.2:p.His2390GlnfsTer9
NM_024408.3:c.7170_7171del NP_077719.2:p.His2390GlnfsTer9
XM_005270901.2:c.7053_7054del XP_005270958.1:p.His2351GlnfsTer9
XM_011541519.1:c.7158_7159del XP_011539821.1:p.His2386GlnfsTer9
XM_011541520.1:c.7053_7054del XP_011539822.1:p.His2351GlnfsTer9
NM_024408.4:c.7170_7171del MANE Select NP_077719.2:p.His2390GlnfsTer9
Search 100 bp 5'
Search 100 bp 3'