Canonical Allele Identifier: CA341882469

Gene: NOTCH2

Linked Data

• gnomAD v4: 1-119969568-A-T
• MyVariant Identifiers: chr1:g.120512191A>T (hg19) ; chr1:g.119969568A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119969568A>T , CM000663.2:g.119969568A>T	GRCh38
NC_000001.10:g.120512191A>T , CM000663.1:g.120512191A>T	GRCh37
NC_000001.9:g.120313714A>T	NCBI36
NG_008163.1:g.105086T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.1051T>A MANE Select	ENSP00000256646.2:p.Ser351Thr
ENST00000640021.1:c.271T>A	ENSP00000492223.1:n.271T>A
ENST00000256646.6:c.1051T>A	ENSP00000256646.2:p.Ser351Thr
ENST00000479412.2:n.1189T>A
ENST00000579475.7:c.934T>A	ENSP00000477065.2:p.Ser312Thr
NM_001200001.1:c.1051T>A	NP_001186930.1:p.Ser351Thr
NM_024408.3:c.1051T>A	NP_077719.2:p.Ser351Thr
XM_005270901.2:c.934T>A	XP_005270958.1:p.Ser312Thr
XM_011541519.1:c.1039T>A	XP_011539821.1:p.Ser347Thr
XM_011541520.1:c.934T>A	XP_011539822.1:p.Ser312Thr
NM_024408.4:c.1051T>A MANE Select	NP_077719.2:p.Ser351Thr
NM_001200001.2:c.1051T>A	NP_001186930.1:p.Ser351Thr