Canonical Allele Identifier: CA1143360204
Gene: NOTCH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119967571C= , CM000663.2:g.119967571C= GRCh38
NC_000001.10:g.120510194C= , CM000663.1:g.120510194C= GRCh37
NC_000001.9:g.120311717C= NCBI36
NG_008163.1:g.107083G=

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.1315G= MANE Select ENSP00000256646.2:p.Ala439=
ENST00000640021.1:c.535G= ENSP00000492223.1:n.535G=
ENST00000256646.6:c.1315G= ENSP00000256646.2:p.Ala439=
ENST00000479412.2:n.1453G=
ENST00000579475.7:c.1198G= ENSP00000477065.2:p.Ala400=
NM_001200001.1:c.1315G= NP_001186930.1:p.Ala439=
NM_024408.3:c.1315G= NP_077719.2:p.Ala439=
XM_005270901.2:c.1198G= XP_005270958.1:p.Ala400=
XM_011541519.1:c.1303G= XP_011539821.1:p.Ala435=
XM_011541520.1:c.1198G= XP_011539822.1:p.Ala400=
NM_024408.4:c.1315G= MANE Select NP_077719.2:p.Ala439=
NM_001200001.2:c.1315G= NP_001186930.1:p.Ala439=