Canonical Allele Identifier: CA1040667

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119987012A>C , CM000663.2:g.119987012A>C	GRCh38
NC_000001.10:g.120529635A>C , CM000663.1:g.120529635A>C	GRCh37
NC_000001.9:g.120331158A>C	NCBI36
NG_008163.1:g.87642T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.822T>G MANE Select	NP_077719.2:p.Val274=
ENST00000256646.7:c.822T>G MANE Select	ENSP00000256646.2:p.Val274=
NM_001200001.1:c.822T>G	NP_001186930.1:p.Val274=
NM_001200001.2:c.822T>G	NP_001186930.1:p.Val274=
NM_024408.3:c.822T>G	NP_077719.2:p.Val274=
ENST00000256646.6:c.822T>G	ENSP00000256646.2:p.Val274=
ENST00000479412.2:n.960T>G
ENST00000579475.7:c.705T>G	ENSP00000477065.2:p.Val235=
ENST00000640021.1:c.39T>G	ENSP00000492223.1:p.Val13=
XM_005270901.2:c.705T>G	XP_005270958.1:p.Val235=
XM_011541519.1:c.810T>G	XP_011539821.1:p.Val270=
XM_011541520.1:c.705T>G	XP_011539822.1:p.Val235=