Canonical Allele Identifier: CA1039771

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 283843
• ClinVar RCV Id: RCV000268720 ; RCV000556572 ; RCV001753744 ; RCV003897609
• dbSNP Id: rs116321057
• ExAC: 1:120465364 C / T
• gnomAD v2: 1-120465364-C-T
• gnomAD v3: 1-119922741-C-T
• gnomAD v4: 1-119922741-C-T
• MyVariant Identifiers: chr1:g.120465364C>T (hg19) ; chr1:g.119922741C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119922741C>T , CM000663.2:g.119922741C>T	GRCh38
NC_000001.10:g.120465364C>T , CM000663.1:g.120465364C>T	GRCh37
NC_000001.9:g.120266887C>T	NCBI36
NG_008163.1:g.151913G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.4897G>A MANE Select	ENSP00000256646.2:p.Val1633Ile
ENST00000256646.6:c.4897G>A	ENSP00000256646.2:p.Val1633Ile
ENST00000493703.1:n.307G>A
NM_024408.3:c.4897G>A	NP_077719.2:p.Val1633Ile
XM_005270901.2:c.4780G>A	XP_005270958.1:p.Val1594Ile
XM_011541519.1:c.4885G>A	XP_011539821.1:p.Val1629Ile
XM_011541520.1:c.4780G>A	XP_011539822.1:p.Val1594Ile
NM_024408.4:c.4897G>A MANE Select	NP_077719.2:p.Val1633Ile