Canonical Allele Identifier: CA1039338

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 290972
• ClinVar RCV Id: RCV000353065 ; RCV002518153 ; RCV002502157
• dbSNP Id: rs760004891
• ExAC: 1:120458346 C / T
• gnomAD v2: 1-120458346-C-T
• gnomAD v3: 1-119915723-C-T
• gnomAD v4: 1-119915723-C-T
• MyVariant Identifiers: chr1:g.120458346C>T (hg19) ; chr1:g.119915723C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119915723C>T , CM000663.2:g.119915723C>T	GRCh38
NC_000001.10:g.120458346C>T , CM000663.1:g.120458346C>T	GRCh37
NC_000001.9:g.120259869C>T	NCBI36
NG_008163.1:g.158931G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.6999G>A MANE Select	ENSP00000256646.2:p.Ala2333=
ENST00000256646.6:c.6999G>A	ENSP00000256646.2:p.Ala2333=
NM_024408.3:c.6999G>A	NP_077719.2:p.Ala2333=
XM_005270901.2:c.6882G>A	XP_005270958.1:p.Ala2294=
XM_011541519.1:c.6987G>A	XP_011539821.1:p.Ala2329=
XM_011541520.1:c.6882G>A	XP_011539822.1:p.Ala2294=
NM_024408.4:c.6999G>A MANE Select	NP_077719.2:p.Ala2333=