Canonical Allele Identifier: CA10602736

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 280705
• ClinVar RCV Id: RCV000396824 ; RCV003633494
• dbSNP Id: rs886041862
• gnomAD v2: 1-120458558-G-A
• gnomAD v4: 1-119915935-G-A
• MyVariant Identifiers: chr1:g.120458558G>A (hg19) ; chr1:g.119915935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119915935G>A , CM000663.2:g.119915935G>A	GRCh38
NC_000001.10:g.120458558G>A , CM000663.1:g.120458558G>A	GRCh37
NC_000001.9:g.120260081G>A	NCBI36
NG_008163.1:g.158719C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.6787C>T MANE Select	ENSP00000256646.2:p.Gln2263Ter
ENST00000256646.6:c.6787C>T	ENSP00000256646.2:p.Gln2263Ter
NM_024408.3:c.6787C>T	NP_077719.2:p.Gln2263Ter
XM_005270901.2:c.6670C>T	XP_005270958.1:p.Gln2224Ter
XM_011541519.1:c.6775C>T	XP_011539821.1:p.Gln2259Ter
XM_011541520.1:c.6670C>T	XP_011539822.1:p.Gln2224Ter
NM_024408.4:c.6787C>T MANE Select	NP_077719.2:p.Gln2263Ter