Canonical Allele Identifier: CA30320395

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 499364
• ClinVar RCV Id: RCV000591481 ; RCV002532465 ; RCV003980086
• dbSNP Id: rs149036937
• gnomAD v3: 1-119929079-T-G
• gnomAD v4: 1-119929079-T-G
• MyVariant Identifiers: chr1:g.120471702T>G (hg19) ; chr1:g.119929079T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119929079T>G , CM000663.2:g.119929079T>G	GRCh38
NC_000001.10:g.120471702T>G , CM000663.1:g.120471702T>G	GRCh37
NC_000001.9:g.120273225T>G	NCBI36
NG_008163.1:g.145575A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.3789A>C MANE Select	ENSP00000256646.2:p.Gly1263=
ENST00000256646.6:c.3789A>C	ENSP00000256646.2:p.Gly1263=
NM_024408.3:c.3789A>C	NP_077719.2:p.Gly1263=
XM_005270901.2:c.3672A>C	XP_005270958.1:p.Gly1224=
XM_011541519.1:c.3777A>C	XP_011539821.1:p.Gly1259=
XM_011541520.1:c.3672A>C	XP_011539822.1:p.Gly1224=
NM_024408.4:c.3789A>C MANE Select	NP_077719.2:p.Gly1263=