Canonical Allele Identifier: CA420038824

Gene: NOTCH2

Linked Data

• dbSNP Id: rs2101145557
• MyVariant Identifiers: chr1:g.120510797C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119968174C>T , CM000663.2:g.119968174C>T	GRCh38
NC_000001.10:g.120510797C>T , CM000663.1:g.120510797C>T	GRCh37
NC_000001.9:g.120312320C>T	NCBI36
NG_008163.1:g.106480G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.1167G>A MANE Select	ENSP00000256646.2:p.Leu389=
ENST00000640021.1:c.387G>A	ENSP00000492223.1:n.387G>A
ENST00000256646.6:c.1167G>A	ENSP00000256646.2:p.Leu389=
ENST00000479412.2:n.1305G>A
ENST00000579475.7:c.1050G>A	ENSP00000477065.2:p.Leu350=
NM_001200001.1:c.1167G>A	NP_001186930.1:p.Leu389=
NM_024408.3:c.1167G>A	NP_077719.2:p.Leu389=
XM_005270901.2:c.1050G>A	XP_005270958.1:p.Leu350=
XM_011541519.1:c.1155G>A	XP_011539821.1:p.Leu385=
XM_011541520.1:c.1050G>A	XP_011539822.1:p.Leu350=
NM_024408.4:c.1167G>A MANE Select	NP_077719.2:p.Leu389=
NM_001200001.2:c.1167G>A	NP_001186930.1:p.Leu389=