Canonical Allele Identifier: CA1040562

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 1355813
• ClinVar RCV Id: RCV001867111
• dbSNP Id: rs782348587
• ExAC: 1:120510195 G / A
• gnomAD v2: 1-120510195-G-A
• gnomAD v4: 1-119967572-G-A
• MyVariant Identifiers: chr1:g.120510195G>A (hg19) ; chr1:g.119967572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119967572G>A , CM000663.2:g.119967572G>A	GRCh38
NC_000001.10:g.120510195G>A , CM000663.1:g.120510195G>A	GRCh37
NC_000001.9:g.120311718G>A	NCBI36
NG_008163.1:g.107082C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.1314C>T MANE Select	ENSP00000256646.2:p.Gly438=
ENST00000640021.1:c.534C>T	ENSP00000492223.1:n.534C>T
ENST00000256646.6:c.1314C>T	ENSP00000256646.2:p.Gly438=
ENST00000479412.2:n.1452C>T
ENST00000579475.7:c.1197C>T	ENSP00000477065.2:p.Gly399=
NM_001200001.1:c.1314C>T	NP_001186930.1:p.Gly438=
NM_024408.3:c.1314C>T	NP_077719.2:p.Gly438=
XM_005270901.2:c.1197C>T	XP_005270958.1:p.Gly399=
XM_011541519.1:c.1302C>T	XP_011539821.1:p.Gly434=
XM_011541520.1:c.1197C>T	XP_011539822.1:p.Gly399=
NM_024408.4:c.1314C>T MANE Select	NP_077719.2:p.Gly438=
NM_001200001.2:c.1314C>T	NP_001186930.1:p.Gly438=