Canonical Allele Identifier: CA1192535042

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119975455_119975458delinsGGCC , CM000663.2:g.119975455_119975458delinsGGCC	GRCh38
NC_000001.10:g.120518078_120518081delinsGGCC , CM000663.1:g.120518078_120518081delinsGGCC	GRCh37
NC_000001.9:g.120319601_120319604delinsGGCC	NCBI36
NG_008163.1:g.99196_99199delinsGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.875-5714_875-5711delinsGGCC MANE Select	ENSP00000256646.2:n.875-5714_875-5711delinsGGCC
ENST00000640021.1:c.94+892_94+895delinsGGCC	ENSP00000492223.1:n.94+892_94+895delinsGGCC
ENST00000256646.6:c.875-5714_875-5711delinsGGCC	ENSP00000256646.2:n.875-5714_875-5711delinsGGCC
ENST00000479412.2:n.1013-5714_1013-5711delinsGGCC
ENST00000579475.7:c.758-5714_758-5711delinsGGCC	ENSP00000477065.2:n.758-5714_758-5711delinsGGCC
NM_001200001.1:c.875-5714_875-5711delinsGGCC	NP_001186930.1:n.875-5714_875-5711delinsGGCC
NM_024408.3:c.875-5714_875-5711delinsGGCC	NP_077719.2:n.875-5714_875-5711delinsGGCC
XM_005270901.2:c.758-5714_758-5711delinsGGCC	XP_005270958.1:n.758-5714_758-5711delinsGGCC
XM_011541519.1:c.863-5714_863-5711delinsGGCC	XP_011539821.1:n.863-5714_863-5711delinsGGCC
XM_011541520.1:c.758-5714_758-5711delinsGGCC	XP_011539822.1:n.758-5714_758-5711delinsGGCC
NM_024408.4:c.875-5714_875-5711delinsGGCC MANE Select	NP_077719.2:n.875-5714_875-5711delinsGGCC
NM_001200001.2:c.875-5714_875-5711delinsGGCC	NP_001186930.1:n.875-5714_875-5711delinsGGCC