Canonical Allele Identifier: CA2745259486
Gene: NOTCH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119975401_119975533del , CM000663.2:g.119975401_119975533del GRCh38
NC_000001.10:g.120518024_120518156del , CM000663.1:g.120518024_120518156del GRCh37
NC_000001.9:g.120319547_120319679del NCBI36
NG_008163.1:g.99126_99258del

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.875-5784_875-5652del MANE Select ENSP00000256646.2:n.875-5784_875-5652del
ENST00000640021.1:c.94+822_94+954del ENSP00000492223.1:n.94+822_94+954del
ENST00000256646.6:c.875-5784_875-5652del ENSP00000256646.2:n.875-5784_875-5652del
ENST00000479412.2:n.1013-5784_1013-5652del
ENST00000579475.7:c.758-5784_758-5652del ENSP00000477065.2:n.758-5784_758-5652del
NM_001200001.1:c.875-5784_875-5652del NP_001186930.1:n.875-5784_875-5652del
NM_024408.3:c.875-5784_875-5652del NP_077719.2:n.875-5784_875-5652del
XM_005270901.2:c.758-5784_758-5652del XP_005270958.1:n.758-5784_758-5652del
XM_011541519.1:c.863-5784_863-5652del XP_011539821.1:n.863-5784_863-5652del
XM_011541520.1:c.758-5784_758-5652del XP_011539822.1:n.758-5784_758-5652del
NM_024408.4:c.875-5784_875-5652del MANE Select NP_077719.2:n.875-5784_875-5652del
NM_001200001.2:c.875-5784_875-5652del NP_001186930.1:n.875-5784_875-5652del