Canonical Allele Identifier: CA341852061

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119937398G>C , CM000663.2:g.119937398G>C	GRCh38
NC_000001.10:g.120480021G>C , CM000663.1:g.120480021G>C	GRCh37
NC_000001.9:g.120281544G>C	NCBI36
NG_008163.1:g.137256C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.3406C>G MANE Select	NP_077719.2:p.Gln1136Glu
ENST00000256646.7:c.3406C>G MANE Select	ENSP00000256646.2:p.Gln1136Glu
NM_001200001.1:c.3406C>G	NP_001186930.1:p.Gln1136Glu
NM_001200001.2:c.3406C>G	NP_001186930.1:p.Gln1136Glu
NM_024408.3:c.3406C>G	NP_077719.2:p.Gln1136Glu
ENST00000256646.6:c.3406C>G	ENSP00000256646.2:p.Gln1136Glu
ENST00000478864.1:n.66C>G
XM_005270901.2:c.3289C>G	XP_005270958.1:p.Gln1097Glu
XM_011541519.1:c.3394C>G	XP_011539821.1:p.Gln1132Glu
XM_011541520.1:c.3289C>G	XP_011539822.1:p.Gln1097Glu