Canonical Allele Identifier: CA341878263

Gene: NOTCH2

Linked Data

• MyVariant Identifiers: chr1:g.120510181T>A (hg19) ; chr1:g.119967558T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119967558T>A , CM000663.2:g.119967558T>A	GRCh38
NC_000001.10:g.120510181T>A , CM000663.1:g.120510181T>A	GRCh37
NC_000001.9:g.120311704T>A	NCBI36
NG_008163.1:g.107096A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.1328A>T MANE Select	ENSP00000256646.2:p.Glu443Val
ENST00000640021.1:c.548A>T	ENSP00000492223.1:n.548A>T
ENST00000256646.6:c.1328A>T	ENSP00000256646.2:p.Glu443Val
ENST00000479412.2:n.1466A>T
ENST00000579475.7:c.1211A>T	ENSP00000477065.2:p.Glu404Val
NM_001200001.1:c.1328A>T	NP_001186930.1:p.Glu443Val
NM_024408.3:c.1328A>T	NP_077719.2:p.Glu443Val
XM_005270901.2:c.1211A>T	XP_005270958.1:p.Glu404Val
XM_011541519.1:c.1316A>T	XP_011539821.1:p.Glu439Val
XM_011541520.1:c.1211A>T	XP_011539822.1:p.Glu404Val
NM_024408.4:c.1328A>T MANE Select	NP_077719.2:p.Glu443Val
NM_001200001.2:c.1328A>T	NP_001186930.1:p.Glu443Val