Canonical Allele Identifier: CA341878299

Gene: NOTCH2

Linked Data

• MyVariant Identifiers: chr1:g.120510186G>T (hg19) ; chr1:g.119967563G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119967563G>T , CM000663.2:g.119967563G>T	GRCh38
NC_000001.10:g.120510186G>T , CM000663.1:g.120510186G>T	GRCh37
NC_000001.9:g.120311709G>T	NCBI36
NG_008163.1:g.107091C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.1323C>A MANE Select	ENSP00000256646.2:p.His441Gln
ENST00000640021.1:c.543C>A	ENSP00000492223.1:n.543C>A
ENST00000256646.6:c.1323C>A	ENSP00000256646.2:p.His441Gln
ENST00000479412.2:n.1461C>A
ENST00000579475.7:c.1206C>A	ENSP00000477065.2:p.His402Gln
NM_001200001.1:c.1323C>A	NP_001186930.1:p.His441Gln
NM_024408.3:c.1323C>A	NP_077719.2:p.His441Gln
XM_005270901.2:c.1206C>A	XP_005270958.1:p.His402Gln
XM_011541519.1:c.1311C>A	XP_011539821.1:p.His437Gln
XM_011541520.1:c.1206C>A	XP_011539822.1:p.His402Gln
NM_024408.4:c.1323C>A MANE Select	NP_077719.2:p.His441Gln
NM_001200001.2:c.1323C>A	NP_001186930.1:p.His441Gln