Canonical Allele Identifier: CA1040668

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119987048A>G , CM000663.2:g.119987048A>G	GRCh38
NC_000001.10:g.120529671A>G , CM000663.1:g.120529671A>G	GRCh37
NC_000001.9:g.120331194A>G	NCBI36
NG_008163.1:g.87606T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.786T>C MANE Select	NP_077719.2:p.Asp262=
ENST00000256646.7:c.786T>C MANE Select	ENSP00000256646.2:p.Asp262=
NM_001200001.1:c.786T>C	NP_001186930.1:p.Asp262=
NM_001200001.2:c.786T>C	NP_001186930.1:p.Asp262=
NM_024408.3:c.786T>C	NP_077719.2:p.Asp262=
ENST00000256646.6:c.786T>C	ENSP00000256646.2:p.Asp262=
ENST00000479412.2:n.924T>C
ENST00000579475.7:c.669T>C	ENSP00000477065.2:p.Asp223=
ENST00000640021.1:c.3T>C	ENSP00000492223.1:p.Asp1=
XM_005270901.2:c.669T>C	XP_005270958.1:p.Asp223=
XM_011541519.1:c.774T>C	XP_011539821.1:p.Asp258=
XM_011541520.1:c.669T>C	XP_011539822.1:p.Asp223=