Canonical Allele Identifier: CA341881367

Gene: NOTCH2

Linked Data

• gnomAD v4: 1-119968175-A-G
• MyVariant Identifiers: chr1:g.120510798A>G (hg19) ; chr1:g.119968175A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119968175A>G , CM000663.2:g.119968175A>G	GRCh38
NC_000001.10:g.120510798A>G , CM000663.1:g.120510798A>G	GRCh37
NC_000001.9:g.120312321A>G	NCBI36
NG_008163.1:g.106479T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.1166T>C MANE Select	ENSP00000256646.2:p.Leu389Pro
ENST00000640021.1:c.386T>C	ENSP00000492223.1:n.386T>C
ENST00000256646.6:c.1166T>C	ENSP00000256646.2:p.Leu389Pro
ENST00000479412.2:n.1304T>C
ENST00000579475.7:c.1049T>C	ENSP00000477065.2:p.Leu350Pro
NM_001200001.1:c.1166T>C	NP_001186930.1:p.Leu389Pro
NM_024408.3:c.1166T>C	NP_077719.2:p.Leu389Pro
XM_005270901.2:c.1049T>C	XP_005270958.1:p.Leu350Pro
XM_011541519.1:c.1154T>C	XP_011539821.1:p.Leu385Pro
XM_011541520.1:c.1049T>C	XP_011539822.1:p.Leu350Pro
NM_024408.4:c.1166T>C MANE Select	NP_077719.2:p.Leu389Pro
NM_001200001.2:c.1166T>C	NP_001186930.1:p.Leu389Pro