Canonical Allele Identifier: CA1139960240
Gene: NOTCH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119981279T= , CM000663.2:g.119981279T= GRCh38
NC_000001.10:g.120523902T= , CM000663.1:g.120523902T= GRCh37
NC_000001.9:g.120325425T= NCBI36
NG_008163.1:g.93375A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.874+5681A= MANE Select ENSP00000256646.2:n.874+5681A=
ENST00000640021.1:c.92-4927A= ENSP00000492223.1:n.92-4927A=
ENST00000256646.6:c.874+5681A= ENSP00000256646.2:n.874+5681A=
ENST00000479412.2:n.1012+5681A=
ENST00000579475.7:c.757+5681A= ENSP00000477065.2:n.757+5681A=
NM_001200001.1:c.874+5681A= NP_001186930.1:n.874+5681A=
NM_024408.3:c.874+5681A= NP_077719.2:n.874+5681A=
XM_005270901.2:c.757+5681A= XP_005270958.1:n.757+5681A=
XM_011541519.1:c.862+5681A= XP_011539821.1:n.862+5681A=
XM_011541520.1:c.757+5681A= XP_011539822.1:n.757+5681A=
NM_024408.4:c.874+5681A= MANE Select NP_077719.2:n.874+5681A=
NM_001200001.2:c.874+5681A= NP_001186930.1:n.874+5681A=