Canonical Allele Identifier: CA2580060920

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119986953T>C , CM000663.2:g.119986953T>C	GRCh38
NC_000001.10:g.120529576T>C , CM000663.1:g.120529576T>C	GRCh37
NC_000001.9:g.120331099T>C	NCBI36
NG_008163.1:g.87701A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.874+7A>G MANE Select	NP_077719.2:n.874+7A>G
ENST00000256646.7:c.874+7A>G MANE Select	ENSP00000256646.2:n.874+7A>G
NM_001200001.1:c.874+7A>G	NP_001186930.1:n.874+7A>G
NM_001200001.2:c.874+7A>G	NP_001186930.1:n.874+7A>G
NM_024408.3:c.874+7A>G	NP_077719.2:n.874+7A>G
ENST00000256646.6:c.874+7A>G	ENSP00000256646.2:n.874+7A>G
ENST00000479412.2:n.1012+7A>G
ENST00000579475.7:c.757+7A>G	ENSP00000477065.2:n.757+7A>G
ENST00000640021.1:c.91+7A>G	ENSP00000492223.1:n.91+7A>G
XM_005270901.2:c.757+7A>G	XP_005270958.1:n.757+7A>G
XM_011541519.1:c.862+7A>G	XP_011539821.1:n.862+7A>G
XM_011541520.1:c.757+7A>G	XP_011539822.1:n.757+7A>G