Canonical Allele Identifier: CA2516547391
Gene: NOTCH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119975257del , CM000663.2:g.119975257del GRCh38
NC_000001.10:g.120517880del , CM000663.1:g.120517880del GRCh37
NC_000001.9:g.120319403del NCBI36
NG_008163.1:g.99398del

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.875-5512del MANE Select ENSP00000256646.2:n.875-5512del
ENST00000640021.1:c.94+1094del ENSP00000492223.1:n.94+1094del
ENST00000256646.6:c.875-5512del ENSP00000256646.2:n.875-5512del
ENST00000479412.2:n.1013-5512del
ENST00000579475.7:c.758-5512del ENSP00000477065.2:n.758-5512del
NM_001200001.1:c.875-5512del NP_001186930.1:n.875-5512del
NM_024408.3:c.875-5512del NP_077719.2:n.875-5512del
XM_005270901.2:c.758-5512del XP_005270958.1:n.758-5512del
XM_011541519.1:c.863-5512del XP_011539821.1:n.863-5512del
XM_011541520.1:c.758-5512del XP_011539822.1:n.758-5512del
NM_024408.4:c.875-5512del MANE Select NP_077719.2:n.875-5512del
NM_001200001.2:c.875-5512del NP_001186930.1:n.875-5512del