Canonical Allele Identifier: CA420038815

Gene: NOTCH2

Linked Data

• MyVariant Identifiers: chr1:g.120510788G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119968165G>C , CM000663.2:g.119968165G>C	GRCh38
NC_000001.10:g.120510788G>C , CM000663.1:g.120510788G>C	GRCh37
NC_000001.9:g.120312311G>C	NCBI36
NG_008163.1:g.106489C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.1176C>G MANE Select	ENSP00000256646.2:p.Thr392=
ENST00000640021.1:c.396C>G	ENSP00000492223.1:n.396C>G
ENST00000256646.6:c.1176C>G	ENSP00000256646.2:p.Thr392=
ENST00000479412.2:n.1314C>G
ENST00000579475.7:c.1059C>G	ENSP00000477065.2:p.Thr353=
NM_001200001.1:c.1176C>G	NP_001186930.1:p.Thr392=
NM_024408.3:c.1176C>G	NP_077719.2:p.Thr392=
XM_005270901.2:c.1059C>G	XP_005270958.1:p.Thr353=
XM_011541519.1:c.1164C>G	XP_011539821.1:p.Thr388=
XM_011541520.1:c.1059C>G	XP_011539822.1:p.Thr353=
NM_024408.4:c.1176C>G MANE Select	NP_077719.2:p.Thr392=
NM_001200001.2:c.1176C>G	NP_001186930.1:p.Thr392=