Canonical Allele Identifier: CA341881356

Gene: NOTCH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.1169G>C MANE Select	ENSP00000256646.2:p.Cys390Ser
ENST00000640021.1:c.389G>C	ENSP00000492223.1:n.389G>C
ENST00000256646.6:c.1169G>C	ENSP00000256646.2:p.Cys390Ser
ENST00000479412.2:n.1307G>C
ENST00000579475.7:c.1052G>C	ENSP00000477065.2:p.Cys351Ser
NM_001200001.1:c.1169G>C	NP_001186930.1:p.Cys390Ser
NM_024408.3:c.1169G>C	NP_077719.2:p.Cys390Ser
XM_005270901.2:c.1052G>C	XP_005270958.1:p.Cys351Ser
XM_011541519.1:c.1157G>C	XP_011539821.1:p.Cys386Ser
XM_011541520.1:c.1052G>C	XP_011539822.1:p.Cys351Ser
NM_024408.4:c.1169G>C MANE Select	NP_077719.2:p.Cys390Ser
NM_001200001.2:c.1169G>C	NP_001186930.1:p.Cys390Ser