Canonical Allele Identifier: CA341881352

Gene: NOTCH2

Linked Data

• MyVariant Identifiers: chr1:g.120510794A>T (hg19) ; chr1:g.119968171A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119968171A>T , CM000663.2:g.119968171A>T	GRCh38
NC_000001.10:g.120510794A>T , CM000663.1:g.120510794A>T	GRCh37
NC_000001.9:g.120312317A>T	NCBI36
NG_008163.1:g.106483T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.1170T>A MANE Select	ENSP00000256646.2:p.Cys390Ter
ENST00000640021.1:c.390T>A	ENSP00000492223.1:n.390T>A
ENST00000256646.6:c.1170T>A	ENSP00000256646.2:p.Cys390Ter
ENST00000479412.2:n.1308T>A
ENST00000579475.7:c.1053T>A	ENSP00000477065.2:p.Cys351Ter
NM_001200001.1:c.1170T>A	NP_001186930.1:p.Cys390Ter
NM_024408.3:c.1170T>A	NP_077719.2:p.Cys390Ter
XM_005270901.2:c.1053T>A	XP_005270958.1:p.Cys351Ter
XM_011541519.1:c.1158T>A	XP_011539821.1:p.Cys386Ter
XM_011541520.1:c.1053T>A	XP_011539822.1:p.Cys351Ter
NM_024408.4:c.1170T>A MANE Select	NP_077719.2:p.Cys390Ter
NM_001200001.2:c.1170T>A	NP_001186930.1:p.Cys390Ter