Canonical Allele Identifier: CA1192532670
Gene: NOTCH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119969564G= , CM000663.2:g.119969564G= GRCh38
NC_000001.10:g.120512187G= , CM000663.1:g.120512187G= GRCh37
NC_000001.9:g.120313710G= NCBI36
NG_008163.1:g.105090C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.1055C= MANE Select ENSP00000256646.2:p.Thr352=
ENST00000640021.1:c.275C= ENSP00000492223.1:n.275C=
ENST00000256646.6:c.1055C= ENSP00000256646.2:p.Thr352=
ENST00000479412.2:n.1193C=
ENST00000579475.7:c.938C= ENSP00000477065.2:p.Thr313=
NM_001200001.1:c.1055C= NP_001186930.1:p.Thr352=
NM_024408.3:c.1055C= NP_077719.2:p.Thr352=
XM_005270901.2:c.938C= XP_005270958.1:p.Thr313=
XM_011541519.1:c.1043C= XP_011539821.1:p.Thr348=
XM_011541520.1:c.938C= XP_011539822.1:p.Thr313=
NM_024408.4:c.1055C= MANE Select NP_077719.2:p.Thr352=
NM_001200001.2:c.1055C= NP_001186930.1:p.Thr352=