Canonical Allele Identifier: CA1039574

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 289122
• ClinVar RCV Id: RCV000259633 ; RCV003522955 ; RCV003967785
• dbSNP Id: rs369586235
• ExAC: 1:120461925 T / G
• gnomAD v2: 1-120461925-T-G
• gnomAD v3: 1-119919302-T-G
• gnomAD v4: 1-119919302-T-G
• MyVariant Identifiers: chr1:g.120461925T>G (hg19) ; chr1:g.119919302T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119919302T>G , CM000663.2:g.119919302T>G	GRCh38
NC_000001.10:g.120461925T>G , CM000663.1:g.120461925T>G	GRCh37
NC_000001.9:g.120263448T>G	NCBI36
NG_008163.1:g.155352A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.5781+10A>C MANE Select	ENSP00000256646.2:n.5781+10A>C
ENST00000256646.6:c.5781+10A>C	ENSP00000256646.2:n.5781+10A>C
NM_024408.3:c.5781+10A>C	NP_077719.2:n.5781+10A>C
XM_005270901.2:c.5664+10A>C	XP_005270958.1:n.5664+10A>C
XM_011541519.1:c.5769+10A>C	XP_011539821.1:n.5769+10A>C
XM_011541520.1:c.5664+10A>C	XP_011539822.1:n.5664+10A>C
NM_024408.4:c.5781+10A>C MANE Select	NP_077719.2:n.5781+10A>C