Canonical Allele Identifier: CA1192514443
Gene: NOTCH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915558T= , CM000663.2:g.119915558T= GRCh38
NC_000001.10:g.120458181T= , CM000663.1:g.120458181T= GRCh37
NC_000001.9:g.120259704T= NCBI36
NG_008163.1:g.159096A=

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.7164A= MANE Select ENSP00000256646.2:p.Ser2388=
ENST00000256646.6:c.7164A= ENSP00000256646.2:p.Ser2388=
NM_024408.3:c.7164A= NP_077719.2:p.Ser2388=
XM_005270901.2:c.7047A= XP_005270958.1:p.Ser2349=
XM_011541519.1:c.7152A= XP_011539821.1:p.Ser2384=
XM_011541520.1:c.7047A= XP_011539822.1:p.Ser2349=
NM_024408.4:c.7164A= MANE Select NP_077719.2:p.Ser2388=