Canonical Allele Identifier: CA341881354

Gene: NOTCH2

Linked Data

• MyVariant Identifiers: chr1:g.120510795C>A (hg19) ; chr1:g.119968172C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119968172C>A , CM000663.2:g.119968172C>A	GRCh38
NC_000001.10:g.120510795C>A , CM000663.1:g.120510795C>A	GRCh37
NC_000001.9:g.120312318C>A	NCBI36
NG_008163.1:g.106482G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.1169G>T MANE Select	ENSP00000256646.2:p.Cys390Phe
ENST00000640021.1:c.389G>T	ENSP00000492223.1:n.389G>T
ENST00000256646.6:c.1169G>T	ENSP00000256646.2:p.Cys390Phe
ENST00000479412.2:n.1307G>T
ENST00000579475.7:c.1052G>T	ENSP00000477065.2:p.Cys351Phe
NM_001200001.1:c.1169G>T	NP_001186930.1:p.Cys390Phe
NM_024408.3:c.1169G>T	NP_077719.2:p.Cys390Phe
XM_005270901.2:c.1052G>T	XP_005270958.1:p.Cys351Phe
XM_011541519.1:c.1157G>T	XP_011539821.1:p.Cys386Phe
XM_011541520.1:c.1052G>T	XP_011539822.1:p.Cys351Phe
NM_024408.4:c.1169G>T MANE Select	NP_077719.2:p.Cys390Phe
NM_001200001.2:c.1169G>T	NP_001186930.1:p.Cys390Phe