Canonical Allele Identifier: CA341877704

Gene: NOTCH2

Linked Data

• MyVariant Identifiers: chr1:g.120510098A>G (hg19) ; chr1:g.119967475A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119967475A>G , CM000663.2:g.119967475A>G	GRCh38
NC_000001.10:g.120510098A>G , CM000663.1:g.120510098A>G	GRCh37
NC_000001.9:g.120311621A>G	NCBI36
NG_008163.1:g.107179T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.1411T>C MANE Select	ENSP00000256646.2:p.Cys471Arg
ENST00000640021.1:c.631T>C	ENSP00000492223.1:n.631T>C
ENST00000256646.6:c.1411T>C	ENSP00000256646.2:p.Cys471Arg
ENST00000479412.2:n.1549T>C
ENST00000579475.7:c.1294T>C	ENSP00000477065.2:p.Cys432Arg
NM_001200001.1:c.1411T>C	NP_001186930.1:p.Cys471Arg
NM_024408.3:c.1411T>C	NP_077719.2:p.Cys471Arg
XM_005270901.2:c.1294T>C	XP_005270958.1:p.Cys432Arg
XM_011541519.1:c.1399T>C	XP_011539821.1:p.Cys467Arg
XM_011541520.1:c.1294T>C	XP_011539822.1:p.Cys432Arg
NM_024408.4:c.1411T>C MANE Select	NP_077719.2:p.Cys471Arg
NM_001200001.2:c.1411T>C	NP_001186930.1:p.Cys471Arg