Canonical Allele Identifier: CA1192534922
Gene: NOTCH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119975184T= , CM000663.2:g.119975184T= GRCh38
NC_000001.10:g.120517807T= , CM000663.1:g.120517807T= GRCh37
NC_000001.9:g.120319330T= NCBI36
NG_008163.1:g.99470A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.875-5440A= MANE Select ENSP00000256646.2:n.875-5440A=
ENST00000640021.1:c.94+1166A= ENSP00000492223.1:n.94+1166A=
ENST00000256646.6:c.875-5440A= ENSP00000256646.2:n.875-5440A=
ENST00000479412.2:n.1013-5440A=
ENST00000579475.7:c.758-5440A= ENSP00000477065.2:n.758-5440A=
NM_001200001.1:c.875-5440A= NP_001186930.1:n.875-5440A=
NM_024408.3:c.875-5440A= NP_077719.2:n.875-5440A=
XM_005270901.2:c.758-5440A= XP_005270958.1:n.758-5440A=
XM_011541519.1:c.863-5440A= XP_011539821.1:n.863-5440A=
XM_011541520.1:c.758-5440A= XP_011539822.1:n.758-5440A=
NM_024408.4:c.875-5440A= MANE Select NP_077719.2:n.875-5440A=
NM_001200001.2:c.875-5440A= NP_001186930.1:n.875-5440A=