Canonical Allele Identifier: CA30309419

Gene: NOTCH2

Linked Data

• dbSNP Id: rs887998786
• gnomAD v2: 1-120518094-C-T
• gnomAD v3: 1-119975471-C-T
• gnomAD v4: 1-119975471-C-T
• MyVariant Identifiers: chr1:g.120518094C>T (hg19) ; chr1:g.119975471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119975471C>T , CM000663.2:g.119975471C>T	GRCh38
NC_000001.10:g.120518094C>T , CM000663.1:g.120518094C>T	GRCh37
NC_000001.9:g.120319617C>T	NCBI36
NG_008163.1:g.99183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.875-5727G>A MANE Select	ENSP00000256646.2:n.875-5727G>A
ENST00000640021.1:c.94+879G>A	ENSP00000492223.1:n.94+879G>A
ENST00000256646.6:c.875-5727G>A	ENSP00000256646.2:n.875-5727G>A
ENST00000479412.2:n.1013-5727G>A
ENST00000579475.7:c.758-5727G>A	ENSP00000477065.2:n.758-5727G>A
NM_001200001.1:c.875-5727G>A	NP_001186930.1:n.875-5727G>A
NM_024408.3:c.875-5727G>A	NP_077719.2:n.875-5727G>A
XM_005270901.2:c.758-5727G>A	XP_005270958.1:n.758-5727G>A
XM_011541519.1:c.863-5727G>A	XP_011539821.1:n.863-5727G>A
XM_011541520.1:c.758-5727G>A	XP_011539822.1:n.758-5727G>A
NM_024408.4:c.875-5727G>A MANE Select	NP_077719.2:n.875-5727G>A
NM_001200001.2:c.875-5727G>A	NP_001186930.1:n.875-5727G>A