Canonical Allele Identifier: CA1039686

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 290858
• ClinVar RCV Id: RCV000404846 ; RCV000691348
• dbSNP Id: rs747138507
• ExAC: 1:120464428 G / T
• gnomAD v2: 1-120464428-G-T
• gnomAD v3: 1-119921805-G-T
• gnomAD v4: 1-119921805-G-T
• MyVariant Identifiers: chr1:g.120464428G>T (hg19) ; chr1:g.119921805G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119921805G>T , CM000663.2:g.119921805G>T	GRCh38
NC_000001.10:g.120464428G>T , CM000663.1:g.120464428G>T	GRCh37
NC_000001.9:g.120265951G>T	NCBI36
NG_008163.1:g.152849C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.5218C>A MANE Select	ENSP00000256646.2:p.Leu1740Ile
ENST00000256646.6:c.5218C>A	ENSP00000256646.2:p.Leu1740Ile
NM_024408.3:c.5218C>A	NP_077719.2:p.Leu1740Ile
XM_005270901.2:c.5101C>A	XP_005270958.1:p.Leu1701Ile
XM_011541519.1:c.5206C>A	XP_011539821.1:p.Leu1736Ile
XM_011541520.1:c.5101C>A	XP_011539822.1:p.Leu1701Ile
NM_024408.4:c.5218C>A MANE Select	NP_077719.2:p.Leu1740Ile