Canonical Allele Identifier: CA1192514405
Gene: NOTCH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915462C= , CM000663.2:g.119915462C= GRCh38
NC_000001.10:g.120458085C= , CM000663.1:g.120458085C= GRCh37
NC_000001.9:g.120259608C= NCBI36
NG_008163.1:g.159192G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.7260G= MANE Select ENSP00000256646.2:p.Glu2420=
ENST00000256646.6:c.7260G= ENSP00000256646.2:p.Glu2420=
NM_024408.3:c.7260G= NP_077719.2:p.Glu2420=
XM_005270901.2:c.7143G= XP_005270958.1:p.Glu2381=
XM_011541519.1:c.7248G= XP_011539821.1:p.Glu2416=
XM_011541520.1:c.7143G= XP_011539822.1:p.Glu2381=
NM_024408.4:c.7260G= MANE Select NP_077719.2:p.Glu2420=