Canonical Allele Identifier: CA1192534909

Gene: NOTCH2

Linked Data

• dbSNP Id: rs1651522169

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119975153_119975155del , CM000663.2:g.119975153_119975155del	GRCh38
NC_000001.10:g.120517776_120517778del , CM000663.1:g.120517776_120517778del	GRCh37
NC_000001.9:g.120319299_120319301del	NCBI36
NG_008163.1:g.99502_99504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.875-5408_875-5406del MANE Select	ENSP00000256646.2:n.875-5408_875-5406del
ENST00000640021.1:c.94+1198_94+1200del	ENSP00000492223.1:n.94+1198_94+1200del
ENST00000256646.6:c.875-5408_875-5406del	ENSP00000256646.2:n.875-5408_875-5406del
ENST00000479412.2:n.1013-5408_1013-5406del
ENST00000579475.7:c.758-5408_758-5406del	ENSP00000477065.2:n.758-5408_758-5406del
NM_001200001.1:c.875-5408_875-5406del	NP_001186930.1:n.875-5408_875-5406del
NM_024408.3:c.875-5408_875-5406del	NP_077719.2:n.875-5408_875-5406del
XM_005270901.2:c.758-5408_758-5406del	XP_005270958.1:n.758-5408_758-5406del
XM_011541519.1:c.863-5408_863-5406del	XP_011539821.1:n.863-5408_863-5406del
XM_011541520.1:c.758-5408_758-5406del	XP_011539822.1:n.758-5408_758-5406del
NM_024408.4:c.875-5408_875-5406del MANE Select	NP_077719.2:n.875-5408_875-5406del
NM_001200001.2:c.875-5408_875-5406del	NP_001186930.1:n.875-5408_875-5406del