Canonical Allele Identifier: CA1192534951
Gene: NOTCH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119975252C= , CM000663.2:g.119975252C= GRCh38
NC_000001.10:g.120517875C= , CM000663.1:g.120517875C= GRCh37
NC_000001.9:g.120319398C= NCBI36
NG_008163.1:g.99402G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.875-5508G= MANE Select ENSP00000256646.2:n.875-5508G=
ENST00000640021.1:c.94+1098G= ENSP00000492223.1:n.94+1098G=
ENST00000256646.6:c.875-5508G= ENSP00000256646.2:n.875-5508G=
ENST00000479412.2:n.1013-5508G=
ENST00000579475.7:c.758-5508G= ENSP00000477065.2:n.758-5508G=
NM_001200001.1:c.875-5508G= NP_001186930.1:n.875-5508G=
NM_024408.3:c.875-5508G= NP_077719.2:n.875-5508G=
XM_005270901.2:c.758-5508G= XP_005270958.1:n.758-5508G=
XM_011541519.1:c.863-5508G= XP_011539821.1:n.863-5508G=
XM_011541520.1:c.758-5508G= XP_011539822.1:n.758-5508G=
NM_024408.4:c.875-5508G= MANE Select NP_077719.2:n.875-5508G=
NM_001200001.2:c.875-5508G= NP_001186930.1:n.875-5508G=