Canonical Allele Identifier: CA10605502

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119969644T>C , CM000663.2:g.119969644T>C	GRCh38
NC_000001.10:g.120512267T>C , CM000663.1:g.120512267T>C	GRCh37
NC_000001.9:g.120313790T>C	NCBI36
NG_008163.1:g.105010A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.975A>G MANE Select	NP_077719.2:p.Val325=
ENST00000256646.7:c.975A>G MANE Select	ENSP00000256646.2:p.Val325=
NM_001200001.1:c.975A>G	NP_001186930.1:p.Val325=
NM_001200001.2:c.975A>G	NP_001186930.1:p.Val325=
NM_024408.3:c.975A>G	NP_077719.2:p.Val325=
ENST00000256646.6:c.975A>G	ENSP00000256646.2:p.Val325=
ENST00000479412.2:n.1113A>G
ENST00000579475.7:c.858A>G	ENSP00000477065.2:p.Val286=
ENST00000640021.1:c.195A>G	ENSP00000492223.1:n.195A>G
XM_005270901.2:c.858A>G	XP_005270958.1:p.Val286=
XM_011541519.1:c.963A>G	XP_011539821.1:p.Val321=
XM_011541520.1:c.858A>G	XP_011539822.1:p.Val286=