Canonical Allele Identifier: CA1040523

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 497431
• ClinVar RCV Id: RCV000593705 ; RCV001082679 ; RCV003935591
• dbSNP Id: rs372367275
• ExAC: 1:120508991 G / A
• gnomAD v2: 1-120508991-G-A
• gnomAD v3: 1-119966368-G-A
• gnomAD v4: 1-119966368-G-A
• MyVariant Identifiers: chr1:g.120508991G>A (hg19) ; chr1:g.119966368G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119966368G>A , CM000663.2:g.119966368G>A	GRCh38
NC_000001.10:g.120508991G>A , CM000663.1:g.120508991G>A	GRCh37
NC_000001.9:g.120310514G>A	NCBI36
NG_008163.1:g.108286C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.1567+8C>T MANE Select	ENSP00000256646.2:n.1567+8C>T
ENST00000640021.1:c.787+8C>T	ENSP00000492223.1:n.787+8C>T
ENST00000256646.6:c.1567+8C>T	ENSP00000256646.2:n.1567+8C>T
ENST00000479412.2:n.1705+8C>T
ENST00000579475.7:c.1450+8C>T	ENSP00000477065.2:n.1450+8C>T
NM_001200001.1:c.1567+8C>T	NP_001186930.1:n.1567+8C>T
NM_024408.3:c.1567+8C>T	NP_077719.2:n.1567+8C>T
XM_005270901.2:c.1450+8C>T	XP_005270958.1:n.1450+8C>T
XM_011541519.1:c.1555+8C>T	XP_011539821.1:n.1555+8C>T
XM_011541520.1:c.1450+8C>T	XP_011539822.1:n.1450+8C>T
NM_024408.4:c.1567+8C>T MANE Select	NP_077719.2:n.1567+8C>T
NM_001200001.2:c.1567+8C>T	NP_001186930.1:n.1567+8C>T