Canonical Allele Identifier: CA1192532703

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119969672G= , CM000663.2:g.119969672G=	GRCh38
NC_000001.10:g.120512295G= , CM000663.1:g.120512295G=	GRCh37
NC_000001.9:g.120313818G=	NCBI36
NG_008163.1:g.104982C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.947C= MANE Select	ENSP00000256646.2:p.Ala316=
ENST00000640021.1:c.167C=	ENSP00000492223.1:n.167C=
ENST00000256646.6:c.947C=	ENSP00000256646.2:p.Ala316=
ENST00000479412.2:n.1085C=
ENST00000579475.7:c.830C=	ENSP00000477065.2:p.Ala277=
NM_001200001.1:c.947C=	NP_001186930.1:p.Ala316=
NM_024408.3:c.947C=	NP_077719.2:p.Ala316=
XM_005270901.2:c.830C=	XP_005270958.1:p.Ala277=
XM_011541519.1:c.935C=	XP_011539821.1:p.Ala312=
XM_011541520.1:c.830C=	XP_011539822.1:p.Ala277=
NM_024408.4:c.947C= MANE Select	NP_077719.2:p.Ala316=
NM_001200001.2:c.947C=	NP_001186930.1:p.Ala316=