Canonical Allele Identifier: CA1006345913

Gene: NOTCH2

Linked Data

• dbSNP Id: rs1651532949
• gnomAD v3: 1-119975372-G-A
• gnomAD v4: 1-119975372-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119975372G>A , CM000663.2:g.119975372G>A	GRCh38
NC_000001.10:g.120517995G>A , CM000663.1:g.120517995G>A	GRCh37
NC_000001.9:g.120319518G>A	NCBI36
NG_008163.1:g.99282C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.875-5628C>T MANE Select	ENSP00000256646.2:n.875-5628C>T
ENST00000640021.1:c.94+978C>T	ENSP00000492223.1:n.94+978C>T
ENST00000256646.6:c.875-5628C>T	ENSP00000256646.2:n.875-5628C>T
ENST00000479412.2:n.1013-5628C>T
ENST00000579475.7:c.758-5628C>T	ENSP00000477065.2:n.758-5628C>T
NM_001200001.1:c.875-5628C>T	NP_001186930.1:n.875-5628C>T
NM_024408.3:c.875-5628C>T	NP_077719.2:n.875-5628C>T
XM_005270901.2:c.758-5628C>T	XP_005270958.1:n.758-5628C>T
XM_011541519.1:c.863-5628C>T	XP_011539821.1:n.863-5628C>T
XM_011541520.1:c.758-5628C>T	XP_011539822.1:n.758-5628C>T
NM_024408.4:c.875-5628C>T MANE Select	NP_077719.2:n.875-5628C>T
NM_001200001.2:c.875-5628C>T	NP_001186930.1:n.875-5628C>T