Canonical Allele Identifier: CA341877641

Gene: NOTCH2

Linked Data

• MyVariant Identifiers: chr1:g.120510088T>A (hg19) ; chr1:g.119967465T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119967465T>A , CM000663.2:g.119967465T>A	GRCh38
NC_000001.10:g.120510088T>A , CM000663.1:g.120510088T>A	GRCh37
NC_000001.9:g.120311611T>A	NCBI36
NG_008163.1:g.107189A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.1421A>T MANE Select	ENSP00000256646.2:p.Lys474Met
ENST00000640021.1:c.641A>T	ENSP00000492223.1:n.641A>T
ENST00000256646.6:c.1421A>T	ENSP00000256646.2:p.Lys474Met
ENST00000479412.2:n.1559A>T
ENST00000579475.7:c.1304A>T	ENSP00000477065.2:p.Lys435Met
NM_001200001.1:c.1421A>T	NP_001186930.1:p.Lys474Met
NM_024408.3:c.1421A>T	NP_077719.2:p.Lys474Met
XM_005270901.2:c.1304A>T	XP_005270958.1:p.Lys435Met
XM_011541519.1:c.1409A>T	XP_011539821.1:p.Lys470Met
XM_011541520.1:c.1304A>T	XP_011539822.1:p.Lys435Met
NM_024408.4:c.1421A>T MANE Select	NP_077719.2:p.Lys474Met
NM_001200001.2:c.1421A>T	NP_001186930.1:p.Lys474Met